Deborah Nickerson

Deborah Nickerson

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Deborah Nickerson

Deborah Nickerson

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Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences.

Authors:
Seung-Been Lee Marsha M Wheeler Kenneth E Thummel Deborah A Nickerson

Clin Pharmacol Ther 2019 Dec 26;106(6):1328-1337. Epub 2019 Jul 26.

Department of Genome Sciences, School of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/cpt.1552DOI Listing
December 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Authors:
Ghayda M Mirzaa Jessica X Chong Amélie Piton Bernt Popp Kimberly Foss Hui Guo Ricardo Harripaul Kun Xia Joshua Scheck Kimberly A Aldinger Samin A Sajan Sha Tang Dominique Bonneau Anita Beck Janson White Sonal Mahida Jacqueline Harris Constance Smith-Hicks Juliane Hoyer Christiane Zweier André Reis Christian T Thiel Rami Abou Jamra Natasha Zeid Amy Yang Laura S Farach Laurence Walsh Katelyn Payne Luis Rohena Milen Velinov Alban Ziegler Elise Schaefer Vincent Gatinois David Geneviève Marleen E H Simon Jennefer Kohler Joshua Rotenberg Patricia Wheeler Austin Larson Michelle E Ernst Cigdem I Akman Rachel Westman Patricia Blanchet Lori-Anne Schillaci Catherine Vincent-Delorme Karen W Gripp Francesca Mattioli Gwenaël Le Guyader Bénédicte Gerard Michèle Mathieu-Dramard Gilles Morin Roksana Sasanfar Muhammad Ayub Nasim Vasli Sandra Yang Rick Person Kristin G Monaghan Deborah A Nickerson Ellen van Binsbergen Gregory M Enns Annika M Dries Leah J Rowe Anne C H Tsai Shayna Svihovec Jennifer Friedman Zehra Agha Raheel Qamar Lance H Rodan Julian Martinez-Agosto Charlotte W Ockeloen Marie Vincent William James Sunderland Jonathan A Bernstein Evan E Eichler John B Vincent Michael J Bamshad

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Authors:
Timothy C Cox Andrew C Lidral Jason C McCoy Huan Liu Liza L Cox Ying Zhu Ryan D Anderson Lina M Moreno Uribe Deepti Anand Mei Deng Chika T Richter Nichole L Nidey Jennifer M Standley Elizabeth E Blue Jessica X Chong Joshua D Smith Edwin P Kirk Hanka Venselaar Katy N Krahn Hans van Bokhoven Huiqing Zhou Robert A Cornell Ian A Glass Michael J Bamshad Deborah A Nickerson Jeffrey C Murray Salil A Lachke Thomas B Thompson Michael F Buckley Tony Roscioli

Hum Mutat 2019 10 18;40(10):1813-1825. Epub 2019 Jun 18.

New South Wales Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.23793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764866PMC
October 2019

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.

Authors:
Bobby G Ng Charles M Lourenço Marie-Estelle Losfeld Kati J Buckingham Martin Kircher Deborah A Nickerson Jay Shendure Michael J Bamshad Hudson H Freeze

J Inherit Metab Dis 2019 Sep 16;42(5):993-997. Epub 2019 Apr 16.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://dx.doi.org/10.1002/jimd.12091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739144PMC
September 2019

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.

Authors:
Xin Niu Laura M Amendola Ragan Hart Caroline S Bennette Patrick Heagerty Martha Horike-Pyne Susan B Trinidad Elisabeth A Rosenthal Bryan Comstock Chris Nefcy Fuki M Hisama Robin L Bennett William M Grady Carlos J Gallego Peter Tarczy-Hornoch Stephanie M Fullerton Wylie Burke Dean A Regier Michael O Dorschner Brian H Shirts Peggy D Robertson Deborah A Nickerson Donald L Patrick Gail P Jarvik David L Veenstra

Contemp Clin Trials 2019 Sep 7;84:105820. Epub 2019 Aug 7.

Comparative Health Outcomes, Economics and Policy Institute (CHOICE), University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15517144193053
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http://dx.doi.org/10.1016/j.cct.2019.105820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741782PMC
September 2019

Redefining the Etiologic Landscape of Cerebellar Malformations.

Authors:
Kimberly A Aldinger Andrew E Timms Zachary Thomson Ghayda M Mirzaa James T Bennett Alexander B Rosenberg Charles M Roco Matthew Hirano Fatima Abidi Parthiv Haldipur Chi V Cheng Sarah Collins Kaylee Park Jordan Zeiger Lynne M Overmann Fowzan S Alkuraya Leslie G Biesecker Stephen R Braddock Sara Cathey Megan T Cho Brian H Y Chung David B Everman Yuri A Zarate Julie R Jones Charles E Schwartz Amy Goldstein Robert J Hopkin Ian D Krantz Roger L Ladda Kathleen A Leppig Barbara C McGillivray Susan Sell Katherine Wusik Joseph G Gleeson Deborah A Nickerson Michael J Bamshad Dianne Gerrelli Steven N Lisgo Georg Seelig Gisele E Ishak A James Barkovich Cynthia J Curry Ian A Glass Kathleen J Millen Dan Doherty William B Dobyns

Am J Hum Genet 2019 Sep 29;105(3):606-615. Epub 2019 Aug 29.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Neurology, University of Washington, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731369PMC
September 2019

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Authors:
Amélie Pinard Stéphanie Guey Dongchuan Guo Alana C Cecchi Natasha Kharas Stephanie Wallace Ellen S Regalado Ellen M Hostetler Anjail Z Sharrief Françoise Bergametti Manoelle Kossorotoff Dominique Hervé Markus Kraemer Michael J Bamshad Deborah A Nickerson Edward R Smith Elisabeth Tournier-Lasserve Dianna M Milewicz

Genet Med 2019 Sep 2. Epub 2019 Sep 2.

Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0639-2DOI Listing
September 2019

Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Authors:
Michael J Bamshad Deborah A Nickerson Jessica X Chong

Am J Hum Genet 2019 Sep;105(3):448-455

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2019.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731362PMC
September 2019

Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.

Authors:
Rachel Dalton Seung-Been Lee Katrina G Claw Bhagwat Prasad Brian R Phillips Danny D Shen Lai Hong Wong Mitch Fade Matthew G McDonald Maitreya J Dunham Douglas M Fowler Allan E Rettie Erin Schuetz Timothy A Thornton Deborah A Nickerson Andrea Gaedigk Kenneth E Thummel Erica L Woodahl

Clin Transl Sci 2019 Sep 19. Epub 2019 Sep 19.

Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana, USA.

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http://dx.doi.org/10.1111/cts.12695DOI Listing
September 2019

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Authors:
Eric D Larson Jose Pedrito M Magno Matthew J Steritz Erasmo Gonzalo D V Llanes Jonathan Cardwell Melquiadesa Pedro Tori Bootpetch Roberts Elisabet Einarsdottir Rose Anne Q Rosanes Christopher Greenlee Rachel Ann P Santos Ayesha Yousaf Sven-Olrik Streubel Aileen Trinidad R Santos Amanda G Ruiz Sheryl Mae Lagrana-Villagracia Dylan Ray Talitha Karisse L Yarza Melissa A Scholes Catherine B Anderson Anushree Acharya Samuel P Gubbels Michael J Bamshad Stephen P Cass Nanette R Lee Rehan S Shaikh Deborah A Nickerson Karen L Mohlke Jeremy D Prager Teresa Luisa G Cruz Patricia J Yoon Generoso T Abes David A Schwartz Abner L Chan Todd M Wine Eva Maria Cutiongco-de la Paz Norman Friedman Katerina Kechris Juha Kere Suzanne M Leal Ivana V Yang Janak A Patel Ma Leah C Tantoco Saima Riazuddin Kenny H Chan Petri S Mattila Maria Rina T Reyes-Quintos Zubair M Ahmed Herman A Jenkins Tasnee Chonmaitree Lena Hafrén Charlotte M Chiong Regie Lyn P Santos-Cortez

Hum Mutat 2019 08 21;40(8):1156-1171. Epub 2019 May 21.

Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23769
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http://dx.doi.org/10.1002/humu.23769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6711784PMC
August 2019

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Authors:
Hui Guo Michael H Duyzend Bradley P Coe Carl Baker Kendra Hoekzema Jennifer Gerdts Tychele N Turner Michael C Zody Jennifer S Beighley Shwetha C Murali Bradley J Nelson Michael J Bamshad Deborah A Nickerson Raphael A Bernier Evan E Eichler

Genet Med 2019 07 3;21(7):1611-1620. Epub 2018 Dec 3.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-018-0380-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546556PMC
July 2019

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.

Authors:
Xue-Yan Duan Dong-Chuan Guo Ellen S Regalado Hong Shen Joseph S Coselli Anthony L Estrera Hazim J Safi Michael J Bamshad Deborah A Nickerson Scott A LeMaire Julie De Backer Dianna M Milewicz

Eur J Hum Genet 2019 Jul 26;27(7):1054-1060. Epub 2019 Feb 26.

Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA.

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http://dx.doi.org/10.1038/s41431-019-0357-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777456PMC
July 2019

Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis.

Authors:
Camille Moore Rachel Z Blumhagen Ivana V Yang Avram Walts Julie Powers Tarik Walker Makenna Bishop Pamela Russell Brian Vestal Jonathan Cardwell Cheryl R Markin Susan K Mathai Marvin I Schwarz Mark P Steele Joyce Lee Kevin K Brown James E Loyd James D Crapo Edwin K Silverman Michael H Cho Judith A James Joel M Guthridge Joy D Cogan Jonathan A Kropski Jeffrey J Swigris Carol Bair Dong Soon Kim Wonjun Ji Hocheol Kim Jin Woo Song Lisa A Maier Karin A Pacheco Nikhil Hirani Azin S Poon Feng Li R Gisli Jenkins Rebecca Braybrooke Gauri Saini Toby M Maher Philip L Molyneaux Peter Saunders Yingze Zhang Kevin F Gibson Daniel J Kass Mauricio Rojas John Sembrat Paul J Wolters Harold R Collard John S Sundy Thomas O'Riordan Mary E Strek Imre Noth Shwu-Fan Ma Mary K Porteous Maryl E Kreider Namrata B Patel Yoshikazu Inoue Masaki Hirose Toru Arai Shinobu Akagawa Oliver Eickelberg Isis Enlil Fernandez Jürgen Behr Nesrin Mogulkoc Tamera J Corte Ian Glaspole Sara Tomassetti Claudia Ravaglia Venerino Poletti Bruno Crestani Raphael Borie Caroline Kannengiesser Helen Parfrey Christine Fiddler Doris Rassl Maria Molina-Molina Carlos Machahua Ana Montes Worboys Gunnar Gudmundsson Helgi J Isaksson David J Lederer Anna J Podolanczuk Sydney B Montesi Elisabeth Bendstrup Vivi Danchel Moises Selman Annie Pardo Michael T Henry Michael P Keane Peter Doran Martina Vašáková Martina Sterclova Christopher J Ryerson Pearce G Wilcox Tsukasa Okamoto Haruhiko Furusawa Yasunari Miyazaki Geoffrey Laurent Svetlana Baltic Cecilia Prele Yuben Moodley Barry S Shea Ken Ohta Maho Suzukawa Osamu Narumoto Steven D Nathan Drew C Venuto Merte L Woldehanna Nurdan Kokturk Joao A de Andrade Tracy Luckhardt Tejaswini Kulkarni Francesco Bonella Seamus C Donnelly Aoife McElroy Michelle E Armstong Alvaro Aranda Roberto G Carbone Francesco Puppo Kenneth B Beckman Deborah A Nickerson Tasha E Fingerlin David A Schwartz

Am J Respir Crit Care Med 2019 Jul;200(2):199-208

1 National Jewish Health, Denver, Colorado.

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http://dx.doi.org/10.1164/rccm.201810-1891OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635791PMC
July 2019

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Authors:
Stephanie A Bien Yu-Ru Su David V Conti Tabitha A Harrison Conghui Qu Xingyi Guo Yingchang Lu Demetrius Albanes Paul L Auer Barbara L Banbury Sonja I Berndt Stéphane Bézieau Hermann Brenner Daniel D Buchanan Bette J Caan Peter T Campbell Christopher S Carlson Andrew T Chan Jenny Chang-Claude Sai Chen Charles M Connolly Douglas F Easton Edith J M Feskens Steven Gallinger Graham G Giles Marc J Gunter Jochen Hampe Jeroen R Huyghe Michael Hoffmeister Thomas J Hudson Eric J Jacobs Mark A Jenkins Ellen Kampman Hyun Min Kang Tilman Kühn Sébastien Küry Flavio Lejbkowicz Loic Le Marchand Roger L Milne Li Li Christopher I Li Annika Lindblom Noralane M Lindor Vicente Martín Caroline E McNeil Marilena Melas Victor Moreno Polly A Newcomb Kenneth Offit Paul D P Pharaoh John D Potter Chenxu Qu Elio Riboli Gad Rennert Núria Sala Clemens Schafmayer Peter C Scacheri Stephanie L Schmit Gianluca Severi Martha L Slattery Joshua D Smith Antonia Trichopoulou Rosario Tumino Cornelia M Ulrich Fränzel J B van Duijnhoven Bethany Van Guelpen Stephanie J Weinstein Emily White Alicja Wolk Michael O Woods Anna H Wu Goncalo R Abeçasis Graham Casey Deborah A Nickerson Stephen B Gruber Li Hsu Wei Zheng Ulrike Peters

Hum Genet 2019 Jul;138(7):789-791

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.

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http://dx.doi.org/10.1007/s00439-019-02030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828521PMC
July 2019

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Authors:
Mary M Jenkins Lynn M Almli Faith Pangilinan Jessica X Chong Elizabeth E Blue Stuart K Shapira Janson White Daniel McGoldrick Joshua D Smith James C Mullikin Christopher J Bean Wendy N Nembhard Xiang-Yang Lou Gary M Shaw Paul A Romitti Kim Keppler-Noreuil Mahsa M Yazdy Denise M Kay Tonia C Carter Andrew F Olshan Kristin J Moore Nanette Nascone-Yoder Richard H Finnell Philip J Lupo Marcia L Feldkamp Deborah A Nickerson Michael J Bamshad Lawrence C Brody Jennita Reefhuis

Birth Defects Res 2019 Jul 21. Epub 2019 Jul 21.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.

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http://dx.doi.org/10.1002/bdr2.1554DOI Listing
July 2019

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Authors:
Irfan Ullah Naseebullah Kakar Isabelle Schrauwen Shabir Hussain Imen Chakchouk Khurram Liaqat Anushree Acharya Naveed Wasif Regie Lyn P Santos-Cortez Saadullah Khan Abdul Aziz Kwanghyuk Lee Julien Couthouis Denise Horn Bjørt K Kragesteen Malte Spielmann Holger Thiele Deborah A Nickerson Michael J Bamshad Aaron D Gitler Jamil Ahmad Muhammad Ansar Guntram Borck Wasim Ahmad Suzanne M Leal

Hum Genet 2019 Jun 13;138(6):593-600. Epub 2019 Apr 13.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-019-02000-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6724712PMC
June 2019

Pharmacogenomics of nicotine metabolism: novel CYP2A6 and CYP2B6 genetic variation patterns in Alaska Native and American Indian populations.

Authors:
Katrina G Claw Julie A Beans Seung-Been Lee Jaedon P Avey Patricia A Stapleton Steven E Scherer Ahmed El-Boraie Rachel F Tyndale Deborah A Nickerson Denise A Dillard Kenneth E Thummel Renee F Robinson

Nicotine Tob Res 2019 Jun 25. Epub 2019 Jun 25.

Southcentral Foundation, Research Department, Anchorage, AK, United States.

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http://dx.doi.org/10.1093/ntr/ntz105DOI Listing
June 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Authors:
Jennifer E Posey Anne H O'Donnell-Luria Jessica X Chong Tamar Harel Shalini N Jhangiani Zeynep H Coban Akdemir Steven Buyske Davut Pehlivan Claudia M B Carvalho Samantha Baxter Nara Sobreira Pengfei Liu Nan Wu Jill A Rosenfeld Sushant Kumar Dimitri Avramopoulos Janson J White Kimberly F Doheny P Dane Witmer Corinne Boehm V Reid Sutton Donna M Muzny Eric Boerwinkle Murat Günel Deborah A Nickerson Shrikant Mane Daniel G MacArthur Richard A Gibbs Ada Hamosh Richard P Lifton Tara C Matise Heidi L Rehm Mark Gerstein Michael J Bamshad David Valle James R Lupski

Genet Med 2019 04 18;21(4):798-812. Epub 2019 Jan 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://www.nature.com/articles/s41436-018-0408-7
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http://dx.doi.org/10.1038/s41436-018-0408-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691975PMC
April 2019

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Authors:
Stephanie A Bien Yu-Ru Su David V Conti Tabitha A Harrison Conghui Qu Xingyi Guo Yingchang Lu Demetrius Albanes Paul L Auer Barbara L Banbury Sonja I Berndt Stéphane Bézieau Hermann Brenner Daniel D Buchanan Bette J Caan Peter T Campbell Christopher S Carlson Andrew T Chan Jenny Chang-Claude Sai Chen Charles M Connolly Douglas F Easton Edith J M Feskens Steven Gallinger Graham G Giles Marc J Gunter Jochen Hampe Jeroen R Huyghe Michael Hoffmeister Thomas J Hudson Eric J Jacobs Mark A Jenkins Ellen Kampman Hyun Min Kang Tilman Kühn Sébastien Küry Flavio Lejbkowicz Loic Le Marchand Roger L Milne Li Li Christopher I Li Annika Lindblom Noralane M Lindor Vicente Martín Caroline E McNeil Marilena Melas Victor Moreno Polly A Newcomb Kenneth Offit Paul D P Pharaoh John D Potter Chenxu Qu Elio Riboli Gad Rennert Núria Sala Clemens Schafmayer Peter C Scacheri Stephanie L Schmit Gianluca Severi Martha L Slattery Joshua D Smith Antonia Trichopoulou Rosario Tumino Cornelia M Ulrich Fränzel J B van Duijnhoven Bethany Van Guelpen Stephanie J Weinstein Emily White Alicja Wolk Michael O Woods Anna H Wu Goncalo R Abecasis Graham Casey Deborah A Nickerson Stephen B Gruber Li Hsu Wei Zheng Ulrike Peters

Hum Genet 2019 Apr 28;138(4):307-326. Epub 2019 Feb 28.

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.

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http://dx.doi.org/10.1007/s00439-019-01989-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483948PMC
April 2019

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Authors:
Emmi Helle Aldo Córdova-Palomera Tiina Ojala Priyanka Saha Praneetha Potiny Stefan Gustafsson Erik Ingelsson Michael Bamshad Deborah Nickerson Jessica X Chong Euan Ashley James R Priest

Genet Epidemiol 2019 03 4;43(2):215-226. Epub 2018 Dec 4.

Division of Cardiovascular Medicine, Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.

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http://doi.wiley.com/10.1002/gepi.22176
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http://dx.doi.org/10.1002/gepi.22176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375786PMC
March 2019

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Authors:
Gloria Negri Pamela Magini Donatella Milani Milena Crippa Elisa Biamino Maria Piccione Stefano Sotgiu Chiara Perrìa Giuseppina Vitiello Marina Frontali Antonella Boni Elisabetta Di Fede Maria Chiara Gandini Elisa Adele Colombo Michael J Bamshad Deborah A Nickerson Joshua D Smith Italia Loddo Palma Finelli Marco Seri Tommaso Pippucci Lidia Larizza Cristina Gervasini

Hum Genet 2019 Mar 26;138(3):257-269. Epub 2019 Feb 26.

Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-019-01985-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736609PMC
March 2019

Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model.

Authors:
Seung-Been Lee Marsha M Wheeler Karynne Patterson Sean McGee Rachel Dalton Erica L Woodahl Andrea Gaedigk Kenneth E Thummel Deborah A Nickerson

Genet Med 2019 02 6;21(2):361-372. Epub 2018 Jun 6.

Department of Genome Sciences, School of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/s41436-018-0054-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281872PMC
February 2019

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.

Authors:
Marsha M Wheeler Kerry W Lannert Haley Huston Shelley N Fletcher Samantha Harris Gayle Teramura Helena J Maki Chris Frazar Jason G Underwood Tristan Shaffer Adolfo Correa Meghan Delaney Alex P Reiner James G Wilson Deborah A Nickerson Jill M Johnsen

Genet Med 2019 02 29;21(2):477-486. Epub 2018 Jun 29.

Bloodworks NW Research Institute, Seattle, Washington, USA.

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http://www.nature.com/articles/s41436-018-0074-9
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http://dx.doi.org/10.1038/s41436-018-0074-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311147PMC
February 2019

Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.

Authors:
Linda M Polfus Laura M Raffield Marsha M Wheeler Russell P Tracy Leslie A Lange Guillaume Lettre Amanda Miller Adolfo Correa Russell P Bowler Joshua C Bis Shabnam Salimi Nancy Swords Jenny Nathan Pankratz Biqi Wang Michael H Preuss Lisheng Zhou Arden Moscati Girish N Nadkarni Ruth J F Loos Xue Zhong Bingshan Li Jill M Johnsen Deborah A Nickerson Alex P Reiner Paul L Auer

Hum Mol Genet 2019 02;28(3):515-523

Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337694PMC
February 2019

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

Authors:
Isabelle Schrauwen Arnaud Pj Giese Abdul Aziz David Tino Lafont Imen Chakchouk Regie Lyn P Santos-Cortez Kwanghyuk Lee Anushree Acharya Falak Sher Khan Asmat Ullah Deborah A Nickerson Michael J Bamshad Ghazanfar Ali Saima Riazuddin Muhammad Ansar Wasim Ahmad Zubair M Ahmed Suzanne M Leal

J Bone Miner Res 2019 Feb 5;34(2):375-386. Epub 2018 Nov 5.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://doi.wiley.com/10.1002/jbmr.3594
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http://dx.doi.org/10.1002/jbmr.3594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489482PMC
February 2019

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Authors:
Khurram Liaqat Isabelle Schrauwen Syed Irfan Raza Kwanghyuk Lee Shabir Hussain Imen Chakchouk Abdul Nasir Anushree Acharya Izoduwa Abbe Muhammad Umair Muhammad Ansar Irfan Ullah Khadim Shah Michael J Bamshad Deborah A Nickerson Wasim Ahmad Suzanne M Leal

J Hum Genet 2019 Feb 30;64(2):153-160. Epub 2018 Nov 30.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s10038-018-0542-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561484PMC
February 2019

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Authors:
Elodie M Richard Regie Lyn P Santos-Cortez Rabia Faridi Atteeq U Rehman Kwanghyuk Lee Mohsin Shahzad Anushree Acharya Asma A Khan Ayesha Imtiaz Imen Chakchouk Christina Takla Izoduwa Abbe Maria Rafeeq Khurram Liaqat Taimur Chaudhry Michael J Bamshad Deborah A Nickerson Isabelle Schrauwen Shaheen N Khan Robert J Morell Saba Zafar Muhammad Ansar Zubair M Ahmed Wasim Ahmad Sheikh Riazuddin Thomas B Friedman Suzanne M Leal Saima Riazuddin

Hum Mutat 2019 01 18;40(1):53-72. Epub 2018 Nov 18.

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland.

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http://doi.wiley.com/10.1002/humu.23666
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http://dx.doi.org/10.1002/humu.23666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296877PMC
January 2019

Discovery of common and rare genetic risk variants for colorectal cancer.

Authors:
Jeroen R Huyghe Stephanie A Bien Tabitha A Harrison Hyun Min Kang Sai Chen Stephanie L Schmit David V Conti Conghui Qu Jihyoun Jeon Christopher K Edlund Peyton Greenside Michael Wainberg Fredrick R Schumacher Joshua D Smith David M Levine Sarah C Nelson Nasa A Sinnott-Armstrong Demetrius Albanes M Henar Alonso Kristin Anderson Coral Arnau-Collell Volker Arndt Christina Bamia Barbara L Banbury John A Baron Sonja I Berndt Stéphane Bézieau D Timothy Bishop Juergen Boehm Heiner Boeing Hermann Brenner Stefanie Brezina Stephan Buch Daniel D Buchanan Andrea Burnett-Hartman Katja Butterbach Bette J Caan Peter T Campbell Christopher S Carlson Sergi Castellví-Bel Andrew T Chan Jenny Chang-Claude Stephen J Chanock Maria-Dolores Chirlaque Sang Hee Cho Charles M Connolly Amanda J Cross Katarina Cuk Keith R Curtis Albert de la Chapelle Kimberly F Doheny David Duggan Douglas F Easton Sjoerd G Elias Faye Elliott Dallas R English Edith J M Feskens Jane C Figueiredo Rocky Fischer Liesel M FitzGerald David Forman Manish Gala Steven Gallinger W James Gauderman Graham G Giles Elizabeth Gillanders Jian Gong Phyllis J Goodman William M Grady John S Grove Andrea Gsur Marc J Gunter Robert W Haile Jochen Hampe Heather Hampel Sophia Harlid Richard B Hayes Philipp Hofer Michael Hoffmeister John L Hopper Wan-Ling Hsu Wen-Yi Huang Thomas J Hudson David J Hunter Gemma Ibañez-Sanz Gregory E Idos Roxann Ingersoll Rebecca D Jackson Eric J Jacobs Mark A Jenkins Amit D Joshi Corinne E Joshu Temitope O Keku Timothy J Key Hyeong Rok Kim Emiko Kobayashi Laurence N Kolonel Charles Kooperberg Tilman Kühn Sébastien Küry Sun-Seog Kweon Susanna C Larsson Cecelia A Laurie Loic Le Marchand Suzanne M Leal Soo Chin Lee Flavio Lejbkowicz Mathieu Lemire Christopher I Li Li Li Wolfgang Lieb Yi Lin Annika Lindblom Noralane M Lindor Hua Ling Tin L Louie Satu Männistö Sanford D Markowitz Vicente Martín Giovanna Masala Caroline E McNeil Marilena Melas Roger L Milne Lorena Moreno Neil Murphy Robin Myte Alessio Naccarati Polly A Newcomb Kenneth Offit Shuji Ogino N Charlotte Onland-Moret Barbara Pardini Patrick S Parfrey Rachel Pearlman Vittorio Perduca Paul D P Pharoah Mila Pinchev Elizabeth A Platz Ross L Prentice Elizabeth Pugh Leon Raskin Gad Rennert Hedy S Rennert Elio Riboli Miguel Rodríguez-Barranco Jane Romm Lori C Sakoda Clemens Schafmayer Robert E Schoen Daniela Seminara Mitul Shah Tameka Shelford Min-Ho Shin Katerina Shulman Sabina Sieri Martha L Slattery Melissa C Southey Zsofia K Stadler Christa Stegmaier Yu-Ru Su Catherine M Tangen Stephen N Thibodeau Duncan C Thomas Sushma S Thomas Amanda E Toland Antonia Trichopoulou Cornelia M Ulrich David J Van Den Berg Franzel J B van Duijnhoven Bethany Van Guelpen Henk van Kranen Joseph Vijai Kala Visvanathan Pavel Vodicka Ludmila Vodickova Veronika Vymetalkova Korbinian Weigl Stephanie J Weinstein Emily White Aung Ko Win C Roland Wolf Alicja Wolk Michael O Woods Anna H Wu Syed H Zaidi Brent W Zanke Qing Zhang Wei Zheng Peter C Scacheri John D Potter Michael C Bassik Anshul Kundaje Graham Casey Victor Moreno Goncalo R Abecasis Deborah A Nickerson Stephen B Gruber Li Hsu Ulrike Peters

Nat Genet 2019 01 3;51(1):76-87. Epub 2018 Dec 3.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41588-018-0286-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358437PMC
January 2019

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Authors:
Amy J LaCroix Deborah Stabley Rebecca Sahraoui Margaret P Adam Michele Mehaffey Kelly Kernan Candace T Myers Carrie Fagerstrom George Anadiotis Yassmine M Akkari Katherine M Robbins Karen W Gripp Wagner A R Baratela Michael B Bober Angela L Duker Dan Doherty Jennifer C Dempsey Daniel G Miller Martin Kircher Michael J Bamshad Deborah A Nickerson Heather C Mefford Katia Sol-Church

Am J Hum Genet 2019 01 13;104(1):35-44. Epub 2018 Dec 13.

Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323552PMC
January 2019

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Authors:
Jennifer A Wambach Daniel J Wegner Nivedita Patni Martin Kircher Marcia C Willing Dustin Baldridge Chao Xing Anil K Agarwal Samantha A Schrier Vergano Chirag Patel Dorothy K Grange Amy Kenney Tasnim Najaf Deborah A Nickerson Michael J Bamshad F Sessions Cole Abhimanyu Garg

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Authors:
Davor Lessel Ayse Bilge Ozel Susan E Campbell Abdelkrim Saadi Martin F Arlt Keisha Melodi McSweeney Vasilica Plaiasu Katalin Szakszon Anna Szőllős Cristina Rusu Armando J Rojas Jaime Lopez-Valdez Holger Thiele Peter Nürnberg Deborah A Nickerson Michael J Bamshad Jun Z Li Christian Kubisch Thomas W Glover Leslie B Gordon

Hum Genet 2018 Dec 19;137(11-12):921-939. Epub 2018 Nov 19.

Warren Alpert Medical School of Brown University, Providence, RI, USA.

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http://dx.doi.org/10.1007/s00439-018-1957-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6652186PMC
December 2018

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Authors:
Andrea Hanson-Kahn Bing Li Daniel H Cohn Deborah A Nickerson Michael J Bamshad Louanne Hudgins

Am J Med Genet A 2018 12 18;176(12):2887-2891. Epub 2018 Nov 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University Medical Center, Stanford, California.

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http://doi.wiley.com/10.1002/ajmg.a.40647
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December 2018

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Authors:
William B Dobyns Kimberly A Aldinger Gisele E Ishak Ghayda M Mirzaa Andrew E Timms Megan E Grout Marjolein H G Dremmen Rachel Schot Laura Vandervore Marjon A van Slegtenhorst Martina Wilke Esmee Kasteleijn Arthur S Lee Brenda J Barry Katherine R Chao Krzysztof Szczałuba Joyce Kobori Andrea Hanson-Kahn Jonathan A Bernstein Lucinda Carr Felice D'Arco Kaori Miyana Tetsuya Okazaki Yoshiaki Saito Masayuki Sasaki Soma Das Marsha M Wheeler Michael J Bamshad Deborah A Nickerson Elizabeth C Engle Frans W Verheijen Dan Doherty Grazia M S Mancini

Am J Hum Genet 2018 12 21;103(6):1009-1021. Epub 2018 Nov 21.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288423PMC
December 2018

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.

Authors:
Theru A Sivakumaran Robert P Igo Jeffrey M Kidd Andy Itsara Laura J Kopplin Wei Chen Stephanie A Hagstrom Neal S Peachey Peter J Francis Michael L Klein Emily Y Chew Vedam L Ramprasad Wan-Ting Tay Paul Mitchell Mark Seielstad Dwight E Stambolian Albert O Edwards Kristine E Lee Dmitry V Leontiev Gyungah Jun Yang Wang Liping Tian Feiyou Qiu Alice K Henning Thomas LaFramboise Parveen Sen Manoharan Aarthi Ronnie George Rajiv Raman Manmath Kumar Das Lingam Vijaya Govindasamy Kumaramanickavel Tien Y Wong Anand Swaroop Goncalo R Abecasis Ronald Klein Barbara E K Klein Deborah A Nickerson Evan E Eichler Sudha K Iyengar

PLoS One 2018 20;13(12):e0209943. Epub 2018 Dec 20.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301675PMC
December 2018

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Authors:
Dandi Qiao Asher Ameli Dmitry Prokopenko Han Chen Alvin T Kho Margaret M Parker Jarrett Morrow Brian D Hobbs Yanhong Liu Terri H Beaty James D Crapo Kathleen C Barnes Deborah A Nickerson Michael Bamshad Craig P Hersh David A Lomas Alvar Agusti Barry J Make Peter M A Calverley Claudio F Donner Emiel F Wouters Jørgen Vestbo Peter D Paré Robert D Levy Stephen I Rennard Ruth Tal-Singer Margaret R Spitz Amitabh Sharma Ingo Ruczinski Christoph Lange Edwin K Silverman Michael H Cho

Hum Mol Genet 2018 11;27(21):3801-3812

Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1093/hmg/ddy269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196654PMC
November 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Authors:
Regie Lyn P Santos-Cortez Charlotte M Chiong Daniel N Frank Allen F Ryan Arnaud P J Giese Tori Bootpetch Roberts Kathleen A Daly Matthew J Steritz Wasyl Szeremeta Melquiadesa Pedro Harold Pine Talitha Karisse L Yarza Melissa A Scholes Erasmo Gonzalo D V Llanes Saira Yousaf Norman Friedman Ma Leah C Tantoco Todd M Wine Patrick John Labra Jeanne Benoit Amanda G Ruiz Rhodieleen Anne R de la Cruz Christopher Greenlee Ayesha Yousaf Jonathan Cardwell Rachelle Marie A Nonato Dylan Ray Kimberly Mae C Ong Edward So Charles E Robertson Jordyn Dinwiddie Sheryl Mae Lagrana-Villagracia Samuel P Gubbels Rehan S Shaikh Stephen P Cass Elisabet Einarsdottir Nanette R Lee David A Schwartz Teresa Luisa I Gloria-Cruz Michael J Bamshad Ivana V Yang Juha Kere Generoso T Abes Jeremy D Prager Saima Riazuddin Abner L Chan Patricia J Yoon Deborah A Nickerson Eva Maria Cutiongco-de la Paz Sven-Olrik Streubel Maria Rina T Reyes-Quintos Herman A Jenkins Petri Mattila Kenny H Chan Karen L Mohlke Suzanne M Leal Lena Hafrén Tasnee Chonmaitree Michele M Sale Zubair M Ahmed

Am J Hum Genet 2018 11 25;103(5):679-690. Epub 2018 Oct 25.

Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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http://dx.doi.org/10.1016/j.ajhg.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217759PMC
November 2018

A case for expanding carrier testing to include actionable X-linked disorders.

Authors:
Alan F Rope Tia L Kauffman Pat Himes Laura M Amendola Sumit Punj Yassmine Akkari Amiee Potter James V Davis Jennifer L Schneider Jacob A Reiss Mari J Gilmore Carmit K McMullen Deborah A Nickerson C Sue Richards Gail P Jarvik Benjamin S Wilfond Katrina A B Goddard

Clin Case Rep 2018 Nov 19;6(11):2092-2095. Epub 2018 Sep 19.

Center for Health Research Kaiser Permanente Northwest Portland Oregon.

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http://dx.doi.org/10.1002/ccr3.1806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230667PMC
November 2018

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Authors:
Elisabeth A Rosenthal Brian H Shirts Laura M Amendola Martha Horike-Pyne Peggy D Robertson Fuki M Hisama Robin L Bennett Michael O Dorschner Deborah A Nickerson Ian B Stanaway Rami Nassir Kathy T Vickers Christopher Li William M Grady Ulrike Peters Gail P Jarvik

Hum Genet 2018 Oct 28;137(10):795-806. Epub 2018 Sep 28.

Division of Medical Genetics, School of Medicine, University of Washington Medical Center, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00439-018-1938-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283057PMC
October 2018

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Authors:
Amanda Moccia Anshika Srivastava Jennifer M Skidmore John A Bernat Marsha Wheeler Jessica X Chong Deborah Nickerson Michael Bamshad Margaret A Hefner Donna M Martin Stephanie L Bielas

Genet Med 2018 09 4;20(9):1022-1029. Epub 2018 Jan 4.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2017.233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034995PMC
September 2018

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Authors:
Regie Lyn P Santos-Cortez Valeed Khan Falak Sher Khan Zaib-Un-Nisa Mughal Imen Chakchouk Kwanghyuk Lee Memoona Rasheed Rifat Hamza Anushree Acharya Ehsan Ullah Muhammad Arif Nadeem Saqib Izoduwa Abbe Ghazanfar Ali Muhammad Jawad Hassan Saadullah Khan Zahid Azeem Irfan Ullah Michael J Bamshad Deborah A Nickerson Isabelle Schrauwen Wasim Ahmad Muhammad Ansar Suzanne M Leal

Hum Genet 2018 Sep 22;137(9):735-752. Epub 2018 Aug 22.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-018-1928-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201268PMC
September 2018

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

Authors:
Zahid Latif Imen Chakchouk Isabelle Schrauwen Kwanghyuk Lee Regie Lyn P Santos-Cortez Izoduwa Abbe Anushree Acharya Afeefa Jarral Imran Ali Ehsan Ullah Muhammad Nasim Khan Ghazanfar Ali Tufail Hussain Tahir Michael J Bamshad Deborah A Nickerson Wasim Ahmad Muhammad Ansar Suzanne M Leal

Invest Ophthalmol Vis Sci 2018 09;59(11):4552-4557

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

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http://dx.doi.org/10.1167/iovs.18-23849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133250PMC
September 2018

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Authors:
Rashesh V Sanghvi Christian J Buhay Bradford C Powell Ellen A Tsai Michael O Dorschner Celine S Hong Matthew S Lebo Ariella Sasson David S Hanna Sean McGee Kevin M Bowling Gregory M Cooper David E Gray Robert J Lonigro Andrew Dunford Christine A Brennan Carrie Cibulskis Kimberly Walker Mauricio O Carneiro Joshua Sailsbery Lucia A Hindorff Dan R Robinson Avni Santani Mahdi Sarmady Heidi L Rehm Leslie G Biesecker Deborah A Nickerson Carolyn M Hutter Levi Garraway Donna M Muzny Nikhil Wagle

Genet Med 2018 08 16;20(8):855-866. Epub 2017 Nov 16.

Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2017.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456263PMC
August 2018

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Authors:
Bobby G Ng Hunter R Underhill Lars Palm Per Bengtson Jean-Michel Rozet Sylvie Gerber Arnold Munnich Xavier Zanlonghi Cathy A Stevens Martin Kircher Deborah A Nickerson Kati J Buckingham Kevin D Josephson Jay Shendure Michael J Bamshad Hudson H Freeze Erik A Eklund

JIMD Rep 2019 17;44:85-92. Epub 2018 Aug 17.

Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

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http://dx.doi.org/10.1007/8904_2018_128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323016PMC
August 2018

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Authors:
Isabelle Schrauwen Imen Chakchouk Khurram Liaqat Abid Jan Abdul Nasir Shabir Hussain Deborah A Nickerson Michael J Bamshad Asmat Ullah Wasim Ahmad Suzanne M Leal

Hum Genet 2018 Jul 3;137(6-7):471-478. Epub 2018 Jul 3.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-018-1899-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094940PMC
July 2018

Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.

Authors:
Jason R Cowan Daniel D Kinnamon Ana Morales Lorien Salyer Deborah A Nickerson Ray E Hershberger

Circ Genom Precis Med 2018 07;11(7):e002038

Dorothy M. Davis Heart and Lung Research Institute (J.R.C., D.D.K., A.M., L.S., R.E.H.)

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http://dx.doi.org/10.1161/CIRCGEN.117.002038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294440PMC
July 2018

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

Authors:
Isabelle Schrauwen Imen Chakchouk Anushree Acharya Khurram Liaqat Irfanullah Deborah A Nickerson Michael J Bamshad Khadim Shah Wasim Ahmad Suzanne M Leal

BMC Med Genet 2018 07 20;19(1):122. Epub 2018 Jul 20.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s12881-018-0618-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053831PMC
July 2018

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Authors:
Rivka Sukenik Halevy Huan-Chieh Chien Bo Heinz Michael J Bamshad Deborah A Nickerson Martin Kircher Nadav Ahituv

Hum Mutat 2018 06 22;39(6):811-815. Epub 2018 Mar 22.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/humu.23417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992059PMC
June 2018

Hepatic Abundance and Activity of Androgen- and Drug-Metabolizing Enzyme UGT2B17 Are Associated with Genotype, Age, and Sex.

Authors:
Deepak Kumar Bhatt Abdul Basit Haeyoung Zhang Andrea Gaedigk Seung-Been Lee Katrina G Claw Aanchal Mehrotra Amarjit Singh Chaudhry Robin E Pearce Roger Gaedigk Ulrich Broeckel Timothy A Thornton Deborah A Nickerson Erin G Schuetz John K Amory J Steven Leeder Bhagwat Prasad

Drug Metab Dispos 2018 06 30;46(6):888-896. Epub 2018 Mar 30.

Departments of Pharmaceutics (D.K.B., A.B., H.Z., K.G.C., A.M., B.P.), Genome Sciences (S.L., D.A.N.), Biostatistics (T.A.T.), and Medicine (J.K.A.), University of Washington, Seattle, Washington; Division of Pediatric Pharmacology and Medical Toxicology, Department of Pediatrics, Children's Mercy Hospitals and Clinics, Kansas City, Missouri (A.G., R.E.P., R.G., J.S.L.); Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee (A.S.C., E.G.S.); and Section of Genomic Pediatrics, Department of Pediatrics, and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin (U.B.)

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http://dx.doi.org/10.1124/dmd.118.080952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938891PMC
June 2018

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Authors:
Sumit Punj Yassmine Akkari Jennifer Huang Fei Yang Allison Creason Christine Pak Amiee Potter Michael O Dorschner Deborah A Nickerson Peggy D Robertson Gail P Jarvik Laura M Amendola Jennifer Schleit Dana Kostiner Simpson Alan F Rope Jacob Reiss Tia Kauffman Marian J Gilmore Patricia Himes Benjamin Wilfond Katrina A B Goddard C Sue Richards

Am J Hum Genet 2018 06 10;102(6):1078-1089. Epub 2018 May 10.

Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992121PMC
June 2018

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Authors:
Liza L Cox Timothy C Cox Lina M Moreno Uribe Ying Zhu Chika T Richter Nichole Nidey Jennifer M Standley Mei Deng Elizabeth Blue Jessica X Chong Yueqin Yang Russ P Carstens Deepti Anand Salil A Lachke Joshua D Smith Michael O Dorschner Bruce Bedell Edwin Kirk Anne V Hing Hanka Venselaar Luz C Valencia-Ramirez Michael J Bamshad Ian A Glass Jonathan A Cooper Eric Haan Deborah A Nickerson Hans van Bokhoven Huiqing Zhou Katy N Krahn Michael F Buckley Jeffrey C Murray Andrew C Lidral Tony Roscioli

Am J Hum Genet 2018 06 24;102(6):1143-1157. Epub 2018 May 24.

Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, University of New South Wales, Randwick, NSW 2031, Australia; Neuroscience Research Australia, Sydney, NSW 2031, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992119PMC
June 2018

Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People.

Authors:
Burhan A Khan Renee Robinson Alison E Fohner LeeAnna I Muzquiz Brian D Schilling Julie A Beans Matthew J Olnes Laura Trawicki Holly Frydenlund Cindi Laukes Patrick Beatty Brian Phillips Deborah Nickerson Kevin Howlett Denise A Dillard Timothy A Thornton Kenneth E Thummel Erica L Woodahl

Clin Transl Sci 2018 05 13;11(3):312-321. Epub 2018 Feb 13.

Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana, USA.

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http://dx.doi.org/10.1111/cts.12542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944577PMC
May 2018

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

Authors:
Yu-Ru Su Chongzhi Di Stephanie Bien Licai Huang Xinyuan Dong Goncalo Abecasis Sonja Berndt Stephane Bezieau Hermann Brenner Bette Caan Graham Casey Jenny Chang-Claude Stephen Chanock Sai Chen Charles Connolly Keith Curtis Jane Figueiredo Manish Gala Steven Gallinger Tabitha Harrison Michael Hoffmeister John Hopper Jeroen R Huyghe Mark Jenkins Amit Joshi Loic Le Marchand Polly Newcomb Deborah Nickerson John Potter Robert Schoen Martha Slattery Emily White Brent Zanke Ulrike Peters Li Hsu

Am J Hum Genet 2018 05;102(5):904-919

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986723PMC
May 2018

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Authors:
Rachel B Keller Thao T Tran Shawna M Pyott Melanie G Pepin Ravi Savarirayan George McGillivray Deborah A Nickerson Michael J Bamshad Peter H Byers

Genet Med 2018 04 17;20(4):411-419. Epub 2017 Aug 17.

Department of Pathology, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2017.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816725PMC
April 2018

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Authors:
Dong-Chuan Guo Ellen S Regalado Amelie Pinard Jiyuan Chen Kwanghyuk Lee Christina Rigelsky Lior Zilberberg Ellen M Hostetler Micheala Aldred Stephanie E Wallace Siddharth K Prakash Suzanne M Leal Michael J Bamshad Deborah A Nickerson Marvin Natowicz Daniel B Rifkin Dianna M Milewicz

Am J Hum Genet 2018 04;102(4):706-712

Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985335PMC
April 2018

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Authors:
Kai Li Tan Nele A Haelterman Callie S Kwartler Ellen S Regalado Pei-Tseng Lee Sonal Nagarkar-Jaiswal Dong-Chuan Guo Lita Duraine Michael F Wangler Michael J Bamshad Deborah A Nickerson Guang Lin Dianna M Milewicz Hugo J Bellen

Dev Cell 2018 04;45(2):226-244.e8

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2018.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920516PMC
April 2018

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

Authors:
Daniel Seung Kim Yatong K Li Jerry H Kim Curtis S Bergquist Marsha Gerdes Judy C Bernbaum Nancy Burnham Donna M McDonald-McGinn Elaine H Zackai Susan C Nicolson Thomas L Spray Deborah A Nickerson Hakon Hakonarson Gail P Jarvik J William Gaynor

J Thorac Cardiovasc Surg 2018 03 7;155(3):1139-1147.e2. Epub 2017 Dec 7.

Division of Cardiothoracic Surgery, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jtcvs.2017.08.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931363PMC
March 2018

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Authors:
Laura M Raffield Jacob C Ulirsch Rakhi P Naik Samuel Lessard Robert E Handsaker Deepti Jain Hyun M Kang Nathan Pankratz Paul L Auer Erik L Bao Joshua D Smith Leslie A Lange Ethan M Lange Yun Li Timothy A Thornton Bessie A Young Goncalo R Abecasis Cathy C Laurie Deborah A Nickerson Steven A McCarroll Adolfo Correa James G Wilson Guillaume Lettre Vijay G Sankaran Alex P Reiner

PLoS Genet 2018 03 28;14(3):e1007293. Epub 2018 Mar 28.

Department of Epidemiology, University of Washington, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891078PMC
March 2018

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

Authors:
Takayasu Mori Matthew J Yousefzadeh Maryam Faridounnia Jessica X Chong Fuki M Hisama Louanne Hudgins Gabriela Mercado Erin A Wade Amira S Barghouthy Lin Lee George M Martin Deborah A Nickerson Michael J Bamshad Laura J Niedernhofer Junko Oshima

Hum Mutat 2018 02 17;39(2):255-265. Epub 2017 Nov 17.

Department of Pathology, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/humu.23367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762268PMC
February 2018

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Authors:
Ricardo A Maselli Juan Arredondo Jessica Vázquez Jessica X Chong Michael J Bamshad Deborah A Nickerson Marian Lara Fiona Ng Victoria Lee Lo Peter Pytel Craig M McDonald

Ann N Y Acad Sci 2018 02 28;1413(1):119-125. Epub 2018 Jan 28.

Department of Medicine and Rehabilitation, University of California Davis, Sacramento, California.

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http://dx.doi.org/10.1111/nyas.13585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252105PMC
February 2018

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Authors:
Simone Martinelli Oliver H F Krumbach Francesca Pantaleoni Simona Coppola Ehsan Amin Luca Pannone Kazem Nouri Luciapia Farina Radovan Dvorsky Francesca Lepri Marcel Buchholzer Raphael Konopatzki Laurence Walsh Katelyn Payne Mary Ella Pierpont Samantha Schrier Vergano Katherine G Langley Douglas Larsen Kelly D Farwell Sha Tang Cameron Mroske Ivan Gallotta Elia Di Schiavi Matteo Della Monica Licia Lugli Cesare Rossi Marco Seri Guido Cocchi Lindsay Henderson Berivan Baskin Mariëlle Alders Roberto Mendoza-Londono Lucie Dupuis Deborah A Nickerson Jessica X Chong Naomi Meeks Kathleen Brown Tahnee Causey Megan T Cho Stephanie Demuth Maria Cristina Digilio Bruce D Gelb Michael J Bamshad Martin Zenker Mohammad Reza Ahmadian Raoul C Hennekam Marco Tartaglia Ghayda M Mirzaa

Am J Hum Genet 2018 02 25;102(2):309-320. Epub 2018 Jan 25.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985417PMC
February 2018

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

Authors:
Constantine D Mavroudis Daniel Seung Kim Nancy Burnham Alexandra H Morss Jerry H Kim Amber A Burt David R Crosslin Donna M McDonald-McGinn Elaine H Zackai Meryl S Cohen Susan C Nicolson Thomas L Spray Ian B Stanaway Deborah A Nickerson Mark W Russell Hakon Hakonarson Gail P Jarvik J William Gaynor

Cardiol Young 2018 Jan 20;28(1):39-45. Epub 2017 Sep 20.

1Department of Cardiothoracic Surgery,The Children's Hospital of Philadelphia,Philadelphia,Pennsylvania,United States of America.

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http://dx.doi.org/10.1017/S1047951117001391DOI Listing
January 2018

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Authors:
Wenjuan Zhang S Paige Taylor Hayley A Ennis Kimberly N Forlenza Ivan Duran Bing Li Jorge A Ortiz Sanchez Lisette Nevarez Deborah A Nickerson Michael Bamshad Ralph S Lachman Deborah Krakow Daniel H Cohn

Hum Mutat 2018 01 6;39(1):152-166. Epub 2017 Nov 6.

Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/humu.23362
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http://dx.doi.org/10.1002/humu.23362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198324PMC
January 2018

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Authors:
Khadim Shah Sabba Mehmood Abid Jan Izoduwa Abbe Raja Hussain Ali Anwar Khan Muhammad S Chishti Kwanghyuk Lee Farooq Ahmad Muhammad Ansar Shaheen Shahzad Deborah A Nickerson Michael J Bamshad Paul J Coucke Regie L P Santos-Cortez Richard A Spritz Suzanne M Leal Wasim Ahmad

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/ijd.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094939PMC
December 2017

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data.

Authors:
Stephanie A Bien Paul L Auer Tabitha A Harrison Conghui Qu Charles M Connolly Peyton G Greenside Sai Chen Sonja I Berndt Stéphane Bézieau Hyun M Kang Jeroen Huyghe Hermann Brenner Graham Casey Andrew T Chan John L Hopper Barbara L Banbury Jenny Chang-Claude Stephen J Chanock Robert W Haile Michael Hoffmeister Christian Fuchsberger Mark A Jenkins Suzanne M Leal Mathieu Lemire Polly A Newcomb Steven Gallinger John D Potter Robert E Schoen Martha L Slattery Joshua D Smith Loic Le Marchand Emily White Brent W Zanke Goncalo R Abeçasis Christopher S Carlson Ulrike Peters Deborah A Nickerson Anshul Kundaje Li Hsu

PLoS One 2017 21;12(11):e0186518. Epub 2017 Nov 21.

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0186518PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697874PMC
December 2017

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

Authors:
Anna Tracewska-Siemiątkowska Lonneke Haer-Wigman Danielle G M Bosch Deborah Nickerson Michael J Bamshad Maartje van de Vorst Nanna Dahl Rendtorff Claes Möller Ulrika Kjellström Sten Andréasson Frans P M Cremers Lisbeth Tranebjærg

Genes (Basel) 2017 Dec 11;8(12). Epub 2017 Dec 11.

Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, DK-2600 Glostrup, Denmark.

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http://dx.doi.org/10.3390/genes8120381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748699PMC
December 2017

Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver.

Authors:
Meijuan Xu Deepak Kumar Bhatt Catherine K Yeung Katrina G Claw Amarjit S Chaudhry Andrea Gaedigk Robin E Pearce Ulrich Broeckel Roger Gaedigk Deborah A Nickerson Erin Schuetz Allan E Rettie J Steven Leeder Kenneth E Thummel Bhagwat Prasad

J Pharmacol Exp Ther 2017 11 17;363(2):265-274. Epub 2017 Aug 17.

Departments of Pharmaceutics (M.X., D.K.B., K.G.C., K.E.T., B.P.), Medicinal Chemistry (C.K.Y., A.E.R.), and Genome Sciences (D.N.), University of Washington, Seattle, Washington; Department of Clinical Pharmacology, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China (M.X.); Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee (A.S.C., E.S.); Division of Pediatric Pharmacology and Medical Toxicology, Department of Pediatrics, Children's Mercy Hospitals and Clinics, Kansas City, Missouri (A.G., R.E.P., R.G., J.S.L.); and Section of Genomic Pediatrics, Department of Pediatrics, and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin (U.B.)

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http://jpet.aspetjournals.org/lookup/doi/10.1124/jpet.117.24
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http://dx.doi.org/10.1124/jpet.117.243113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697103PMC
November 2017

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Authors:
Bobby G Ng Carla G Asteggiano Martin Kircher Kati J Buckingham Kimiyo Raymond Deborah A Nickerson Jay Shendure Michael J Bamshad Matthias Ensslen Hudson H Freeze

Am J Med Genet A 2017 Nov 29;173(11):2906-2911. Epub 2017 Aug 29.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://doi.wiley.com/10.1002/ajmg.a.38412
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http://dx.doi.org/10.1002/ajmg.a.38412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650519PMC
November 2017

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Authors:
Edith Said Jessica X Chong Maja Hempel Jonas Denecke Paul Soler Tim Strom Deborah A Nickerson Christian Kubisch Michael J Bamshad Davor Lessel

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.

Authors:
Laura M Raffield Neil A Zakai Qing Duan Cecelia Laurie Joshua D Smith Marguerite R Irvin Margaret F Doyle Rakhi P Naik Ci Song Ani W Manichaikul Yongmei Liu Peter Durda Jerome I Rotter Nancy S Jenny Stephen S Rich James G Wilson Andrew D Johnson Adolfo Correa Yun Li Deborah A Nickerson Kenneth Rice Ethan M Lange Mary Cushman Leslie A Lange Alex P Reiner

Arterioscler Thromb Vasc Biol 2017 11 14;37(11):2220-2227. Epub 2017 Sep 14.

From the Department of Genetics (L.M.R., Q.D., Y. Li), Department of Biostatistics (Y. Li), and Department of Computer Science (Y. Li), University of North Carolina, Chapel Hill; Department of Pathology & Laboratory Medicine (N.A.Z., M.F.D., P.D., N.S.J., M.C.), and Department of Medicine (N.A.Z., M.C.), Hematology/Oncology Division, Larner College of Medicine at the University of Vermont, Burlington; Department of Biostatistics (C.L., K.R.), Department of Genome Sciences (J.D.S., D.A.N.), and Department of Epidemiology (A.P.R.), University of Washington, Seattle; Department of Epidemiology, University of Alabama, Birmingham (M.R.I.); Hematology, Department of Medicine, Johns Hopkins University, Baltimore, MD (R.P.N.); National Heart, Lung, and Blood Institute, Division of Intramural Research, Population Sciences Branch, Bethesda, MD (C.S., A.D.J.); Center for Public Health Genomics, University of Virginia, Charlottesville (A.W.M., S.S.R.); Epidemiology & Prevention, Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, NC (Y. Liu); Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Departments of Pediatrics and Medicine, Harbor-UCLA Medical Center, Torrance, CA, and the David Geffen School of Medicine at UCLA (J.I.R.); Department of Physiology and Biophysics (J.G.W.), and Department of Medicine (A.C.), University of Mississippi Medical Center, Jackson; and Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora (E.M.L., L.A.L.).

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http://dx.doi.org/10.1161/ATVBAHA.117.310073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658238PMC
November 2017

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection.

Authors:
Dong-Chuan Guo Ellen M Hostetler Yuxin Fan Richard J Kulmacz Di Zhang Deborah A Nickerson Suzanne M Leal Scott A LeMaire Ellen S Regalado Dianna M Milewicz

J Am Coll Cardiol 2017 11;70(21):2728-2730

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https://linkinghub.elsevier.com/retrieve/pii/S07351097174098
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http://dx.doi.org/10.1016/j.jacc.2017.09.1094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047350PMC
November 2017

Identification of ASAH1 as a susceptibility gene for familial keloids.

Authors:
Regie Lyn P Santos-Cortez Ying Hu Fanyue Sun Fairouz Benahmed-Miniuk Jian Tao Jitendra K Kanaujiya Samuel Ademola Solomon Fadiora Victoria Odesina Deborah A Nickerson Michael J Bamshad Peter B Olaitan Odunayo M Oluwatosin Suzanne M Leal Ernst J Reichenberger

Eur J Hum Genet 2017 10 26;25(10):1155-1161. Epub 2017 Jul 26.

Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT, USA.

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http://dx.doi.org/10.1038/ejhg.2017.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602022PMC
October 2017

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Authors:
Karthika Balasubramanian Bing Li Deborah Krakow Lisette Nevarez Patric J Ho Julia A Ainsworth Deborah A Nickerson Michael J Bamshad LaDonna Immken Ralph S Lachman Daniel H Cohn

Am J Med Genet A 2017 Sep 25;173(9):2415-2421. Epub 2017 Jul 25.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.38349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564418PMC
September 2017

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Authors:
Ricardo A Maselli Juan Arredondo Jessica Vázquez Jessica X Chong Michael J Bamshad Deborah A Nickerson Marian Lara Fiona Ng Victoria L Lo Peter Pytel Craig M McDonald

Am J Med Genet A 2017 Aug 25;173(8):2240-2245. Epub 2017 May 25.

Department of Medicine and Rehabilitation, University of California Davis, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.38291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541137PMC
August 2017

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

Authors:
Mengmeng Du Shuo Jiao Stephanie A Bien Manish Gala Goncalo Abecasis Stephane Bezieau Hermann Brenner Katja Butterbach Bette J Caan Christopher S Carlson Graham Casey Jenny Chang-Claude David V Conti Keith R Curtis David Duggan Steven Gallinger Robert W Haile Tabitha A Harrison Richard B Hayes Michael Hoffmeister John L Hopper Thomas J Hudson Mark A Jenkins Sébastien Küry Loic Le Marchand Suzanne M Leal Polly A Newcomb Deborah A Nickerson John D Potter Robert E Schoen Fredrick R Schumacher Daniela Seminara Martha L Slattery Li Hsu Andrew T Chan Emily White Sonja I Berndt Ulrike Peters

PLoS One 2016 5;11(7):e0157521. Epub 2016 Jul 5.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0157521PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4933364PMC
July 2017

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.

Authors:
Patricia Himes Tia L Kauffman Kristin R Muessig Laura M Amendola Jonathan S Berg Michael O Dorschner Marian Gilmore Deborah A Nickerson Jacob A Reiss C Sue Richards Alan F Rope Dana K Simpson Benjamin S Wilfond Gail P Jarvik Katrina A B Goddard

Genet Med 2017 07 12;19(7):803-808. Epub 2017 Jan 12.

Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.

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http://dx.doi.org/10.1038/gim.2016.198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509491PMC
July 2017

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Authors:
Julie C Van De Weghe Tamara D S Rusterholz Brooke Latour Megan E Grout Kimberly A Aldinger Ranad Shaheen Jennifer C Dempsey Sateesh Maddirevula Yong-Han H Cheng Ian G Phelps Matthias Gesemann Himanshu Goel Ohad S Birk Talal Alanzi Rifaat Rawashdeh Arif O Khan Michael J Bamshad Deborah A Nickerson Stephan C F Neuhauss William B Dobyns Fowzan S Alkuraya Ronald Roepman Ruxandra Bachmann-Gagescu Dan Doherty

Am J Hum Genet 2017 Jul 15;101(1):23-36. Epub 2017 Jun 15.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501774PMC
July 2017

Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array.

Authors:
Nianjun Liu Marguerite R Irvin Degui Zhi Amit Patki T Mark Beasley Deborah A Nickerson Charles E Hill Jinbo Chen Stephen E Kimmel Nita A Limdi

Pharmacogenomics 2017 Jul 7;18(11):1059-1073. Epub 2017 Jul 7.

Department of Neurology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.2217/pgs-2017-0046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619051PMC
July 2017

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

Authors:
Daniel Seung Kim Amber A Burt Jane E Ranchalis Beth Wilmot Joshua D Smith Karynne E Patterson Bradley P Coe Yatong K Li Michael J Bamshad Molly Nikolas Evan E Eichler James M Swanson Joel T Nigg Deborah A Nickerson Gail P Jarvik

Am J Med Genet B Neuropsychiatr Genet 2017 Jun 22;174(4):381-389. Epub 2017 Mar 22.

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.b.32527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467442PMC
June 2017

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Authors:
Mariella T Simon Bobby G Ng Marisa W Friederich Raymond Y Wang Monica Boyer Martin Kircher Renata Collard Kati J Buckingham Richard Chang Jay Shendure Deborah A Nickerson Michael J Bamshad Johan L K Van Hove Hudson H Freeze Jose E Abdenur

Mitochondrion 2017 05 12;34:84-90. Epub 2017 Feb 12.

Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Irvine, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444868PMC
May 2017

Mutations in IFT-A satellite core component genes and produce short rib polydactyly syndrome with distinctive campomelia.

Authors:
Ivan Duran S Paige Taylor Wenjuan Zhang Jorge Martin Faisal Qureshi Suzanne M Jacques Robert Wallerstein Ralph S Lachman Deborah A Nickerson Michael Bamshad Daniel H Cohn Deborah Krakow

Cilia 2017 10;6. Epub 2017 Apr 10.

Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, CA 90095 USA.

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http://dx.doi.org/10.1186/s13630-017-0051-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387211PMC
April 2017

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.

Authors:
Tia L Kauffman Benjamin S Wilfond Gail P Jarvik Michael C Leo Frances L Lynch Jacob A Reiss C Sue Richards Carmit McMullen Deborah Nickerson Michael O Dorschner Katrina A B Goddard

Contemp Clin Trials 2017 02 7;53:100-105. Epub 2016 Dec 7.

Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA.

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http://dx.doi.org/10.1016/j.cct.2016.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5274557PMC
February 2017

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.

Authors:
Jennifer Zieba Wenjuan Zhang Jessica X Chong Kimberly N Forlenza Jorge H Martin Kelly Heard Dorothy K Grange Merlin G Butler Tjitske Kleefstra Ralph S Lachman Deborah Nickerson Michael Regnier Daniel H Cohn Michael Bamshad Deborah Krakow

Sci Rep 2017 02 16;7:41803. Epub 2017 Feb 16.

Department of Human Genetics, David Geffen School of Medicine at UCLA, California, 90095, USA.

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http://dx.doi.org/10.1038/srep41803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311977PMC
February 2017

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Authors:
Panudda Srichomkwun Junta Takamatsu Deborah A Nickerson Michael J Bamshad Jessica X Chong Samuel Refetoff

Thyroid 2017 01 7;27(1):129-131. Epub 2016 Dec 7.

1 Department of Medicine, The University of Chicago , Chicago, Illinois.

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http://dx.doi.org/10.1089/thy.2016.0469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206697PMC
January 2017

denovo-db: a compendium of human de novo variants.

Authors:
Tychele N Turner Qian Yi Niklas Krumm John Huddleston Kendra Hoekzema Holly A F Stessman Anna-Lisa Doebley Raphael A Bernier Deborah A Nickerson Evan E Eichler

Nucleic Acids Res 2017 01 5;45(D1):D804-D811. Epub 2016 Oct 5.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/nar/gkw865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210614PMC
January 2017

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

Authors:
Dong-Chuan Guo Xue-Yan Duan Ellen S Regalado Lauren Mellor-Crummey Callie S Kwartler Dong Kim Kenneth Lieberman Bert B A de Vries Rolph Pfundt Albert Schinzel Dieter Kotzot Xuetong Shen Min-Lee Yang Michael J Bamshad Deborah A Nickerson Heather L Gornik Santhi K Ganesh Alan C Braverman Dorothy K Grange Dianna M Milewicz

Am J Hum Genet 2017 Jan 8;100(1):21-30. Epub 2016 Dec 8.

Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223026PMC
January 2017

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

Authors:
Patricia G Wheeler Bobby G Ng Laura Sanford V Reid Sutton Dennis W Bartholomew Matthew T Pastore Michael J Bamshad Martin Kircher Kati J Buckingham Deborah A Nickerson Jay Shendure Hudson H Freeze

Am J Med Genet A 2016 12 2;170(12):3165-3171. Epub 2016 Aug 2.

Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://dx.doi.org/10.1002/ajmg.a.37875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115938PMC
December 2016

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Authors:
Michael M Weinstein Taekyu Kang Ralph S Lachman Michael Bamshad Deborah A Nickerson Deborah Krakow Daniel H Cohn

Am J Med Genet A 2016 12 17;170(12):3298-3302. Epub 2016 Aug 17.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles.

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http://dx.doi.org/10.1002/ajmg.a.37942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115972PMC
December 2016

Meta-analysis of genome-wide association studies of HDL cholesterol response to statins.

Authors:
Iris Postmus Helen R Warren Stella Trompet Benoit J Arsenault Christy L Avery Joshua C Bis Daniel I Chasman Catherine E de Keyser Harshal A Deshmukh Daniel S Evans QiPing Feng Xiaohui Li Roelof A J Smit Albert V Smith Fangui Sun Kent D Taylor Alice M Arnold Michael R Barnes Bryan J Barratt John Betteridge S Matthijs Boekholdt Eric Boerwinkle Brendan M Buckley Y-D Ida Chen Anton J M de Craen Steven R Cummings Joshua C Denny Marie Pierre Dubé Paul N Durrington Gudny Eiriksdottir Ian Ford Xiuqing Guo Tamara B Harris Susan R Heckbert Albert Hofman G Kees Hovingh John J P Kastelein Leonore J Launer Ching-Ti Liu Yongmei Liu Thomas Lumley Paul M McKeigue Patricia B Munroe Andrew Neil Deborah A Nickerson Fredrik Nyberg Eoin O'Brien Christopher J O'Donnell Wendy Post Neil Poulter Ramachandran S Vasan Kenneth Rice Stephen S Rich Fernando Rivadeneira Naveed Sattar Peter Sever Sue Shaw-Hawkins Denis C Shields P Eline Slagboom Nicholas L Smith Joshua D Smith Nona Sotoodehnia Alice Stanton David J Stott Bruno H Stricker Til Stürmer André G Uitterlinden Wei-Qi Wei Rudi G J Westendorp Eric A Whitsel Kerri L Wiggins Russell A Wilke Christie M Ballantyne Helen M Colhoun L Adrienne Cupples Oscar H Franco Vilmundur Gudnason Graham Hitman Colin N A Palmer Bruce M Psaty Paul M Ridker Jeanette M Stafford Charles M Stein Jean-Claude Tardif Mark J Caulfield J Wouter Jukema Jerome I Rotter Ronald M Krauss

J Med Genet 2016 12 1;53(12):835-845. Epub 2016 Sep 1.

Department of Atherosclerosis Research, Children's Hospital Oakland Research Institute, Oakland, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-103966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309131PMC
December 2016

Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.

Authors:
Keolu Fox Jill M Johnsen Bradley P Coe Chris D Frazar Alexander P Reiner Evan E Eichler Deborah A Nickerson

Transfusion 2016 11 31;56(11):2744-2749. Epub 2016 Aug 31.

Department of Genome Sciences.

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http://dx.doi.org/10.1111/trf.13797DOI Listing
November 2016

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Authors:
Ines Kapferer-Seebacher Melanie Pepin Roland Werner Timothy J Aitman Ann Nordgren Heribert Stoiber Nicole Thielens Christine Gaboriaud Albert Amberger Anna Schossig Robert Gruber Cecilia Giunta Michael Bamshad Erik Björck Christina Chen David Chitayat Michael Dorschner Marcus Schmitt-Egenolf Christopher J Hale David Hanna Hans Christian Hennies Irene Heiss-Kisielewsky Anna Lindstrand Pernilla Lundberg Anna L Mitchell Deborah A Nickerson Eyal Reinstein Marianne Rohrbach Nikolaus Romani Matthias Schmuth Rachel Silver Fulya Taylan Anthony Vandersteen Jana Vandrovcova Ruwan Weerakkody Margaret Yang F Michael Pope Peter H Byers Johannes Zschocke

Am J Hum Genet 2016 Nov 13;99(5):1005-1014. Epub 2016 Oct 13.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097948PMC
November 2016

A reference panel of 64,976 haplotypes for genotype imputation.

Authors:
Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew R Wood Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura J Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia M van Duijn Christopher E Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis S Collins Laura J Corbin George Davey Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir L Holmen Kristian Hveem Matthias Kretzler James C Lee Matt McGue Thomas Meitinger David Melzer Josine L Min Karen L Mohlke John B Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard H Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G Sampson James F Wilson Timothy Frayling Paul I W de Bakker Morris A Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl A Anderson Richard M Myers Michael Boehnke Mark I McCarthy Richard Durbin

Nat Genet 2016 10 22;48(10):1279-83. Epub 2016 Aug 22.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176PMC
October 2016

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.

Authors:
Paul L Auer Alex P Reiner Gao Wang Hyun Min Kang Goncalo R Abecasis David Altshuler Michael J Bamshad Deborah A Nickerson Russell P Tracy Stephen S Rich Suzanne M Leal

Am J Hum Genet 2016 Oct 22;99(4):791-801. Epub 2016 Sep 22.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065683PMC
October 2016

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

Authors:
S Paige Taylor Michaela Kunova Bosakova Miroslav Varecha Lukas Balek Tomas Barta Lukas Trantirek Iva Jelinkova Ivan Duran Iva Vesela Kimberly N Forlenza Jorge H Martin Ales Hampl Michael Bamshad Deborah Nickerson Margie L Jaworski Jieun Song Hyuk Wan Ko Daniel H Cohn Deborah Krakow Pavel Krejci

Hum Mol Genet 2016 09 27;25(18):3998-4011. Epub 2016 Jul 27.

Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddw240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291234PMC
September 2016

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

Authors:
Wenjuan Zhang S Paige Taylor Lisette Nevarez Ralph S Lachman Deborah A Nickerson Michael Bamshad Deborah Krakow Daniel H Cohn

Hum Mol Genet 2016 09 27;25(18):4012-4020. Epub 2016 Jul 27.

Department of Molecular, Cell, and Developmental Biology

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http://dx.doi.org/10.1093/hmg/ddw241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291235PMC
September 2016

Whole Exome Sequencing in Atrial Fibrillation.

Authors:
Steven A Lubitz Jennifer A Brody Nathan A Bihlmeyer Carolina Roselli Lu-Chen Weng Ingrid E Christophersen Alvaro Alonso Eric Boerwinkle Richard A Gibbs Joshua C Bis L Adrienne Cupples Peter J Mohler Deborah A Nickerson Donna Muzny Marco V Perez Bruce M Psaty Elsayed Z Soliman Nona Sotoodehnia Kathryn L Lunetta Emelia J Benjamin Susan R Heckbert Dan E Arking Patrick T Ellinor Honghuang Lin

PLoS Genet 2016 09 2;12(9):e1006284. Epub 2016 Sep 2.

Boston University and National Heart, Lung and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010214PMC
September 2016

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Authors:
Ivan Duran S Paige Taylor Wenjuan Zhang Jorge Martin Kimberly N Forlenza Rhonda P Spiro Deborah A Nickerson Michael Bamshad Daniel H Cohn Deborah Krakow

Sci Rep 2016 Sep 26;6:34232. Epub 2016 Sep 26.

Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035930PMC
http://dx.doi.org/10.1038/srep34232DOI Listing
September 2016

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Authors:
Gina M Peloso Leslie A Lange Tibor V Varga Deborah A Nickerson Joshua D Smith Michael E Griswold Solomon Musani Linda M Polfus Hao Mei Stacey Gabriel Rakale Collins Quarells David Altshuler Eric Boerwinkle Mark J Daly Benjamin Neale Adolfo Correa Alex P Reiner James G Wilson Sekar Kathiresan

Circ Cardiovasc Genet 2016 Aug 15;9(4):368-74. Epub 2016 Jul 15.

From the Department of Biostatistics, Boston University School of Public Health, Boston, MA (G.M.P.); Center for Human Genetic Research (G.M.P., S.K.) and Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA (M.J.D., B.N.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (G.M.P., S.G., D.A., M.J.D., B.N., S.K.); Department of Genetics, University of North Carolina, Chapel Hill, NC (L.A.L.); Genetic and Molecular Epidemiology Unit, Department of Clinical Sciences, Lund University, Malmö, Sweden (T.V.V.); Department of Genome Sciences, University of Washington, Seattle, WA (D.A.N., J.D.S.); Center of Biostatistics & Bioinformatics (M.E.G., H.M.), Department of Medicine (S.M.), Department of Pediatrics & Medicine (A.C.), and Department of Physiology & Biophysics (J.G.W.), University of Mississippi Medical Center, Jackson, MS; Human Genetics Center, University of Texas Health Science Center, Houston, TX (L.M.P., E.B.); Cardiovascular Research Institute, Morehouse School of Medicine, Atlanta, GA (R.C.Q.); Department of Medicine, Harvard Medical School, Boston, MA (D.A., S.K.); and Department of Epidemiology, University of Washington School of Public Health, Seattle, WA (A.P.R.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988917PMC
August 2016

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.

Authors:
Salman M Tajuddin Ursula M Schick John D Eicher Nathalie Chami Ayush Giri Jennifer A Brody W David Hill Tim Kacprowski Jin Li Leo-Pekka Lyytikäinen Ani Manichaikul Evelin Mihailov Michelle L O'Donoghue Nathan Pankratz Raha Pazoki Linda M Polfus Albert Vernon Smith Claudia Schurmann Caterina Vacchi-Suzzi Dawn M Waterworth Evangelos Evangelou Lisa R Yanek Amber Burt Ming-Huei Chen Frank J A van Rooij James S Floyd Andreas Greinacher Tamara B Harris Heather M Highland Leslie A Lange Yongmei Liu Reedik Mägi Mike A Nalls Rasika A Mathias Deborah A Nickerson Kjell Nikus John M Starr Jean-Claude Tardif Ioanna Tzoulaki Digna R Velez Edwards Lars Wallentin Traci M Bartz Lewis C Becker Joshua C Denny Laura M Raffield John D Rioux Nele Friedrich Myriam Fornage He Gao Joel N Hirschhorn David C M Liewald Stephen S Rich Andre Uitterlinden Lisa Bastarache Diane M Becker Eric Boerwinkle Simon de Denus Erwin P Bottinger Caroline Hayward Albert Hofman Georg Homuth Ethan Lange Lenore J Launer Terho Lehtimäki Yingchang Lu Andres Metspalu Chris J O'Donnell Rakale C Quarells Melissa Richard Eric S Torstenson Kent D Taylor Anne-Claire Vergnaud Alan B Zonderman David R Crosslin Ian J Deary Marcus Dörr Paul Elliott Michele K Evans Vilmundur Gudnason Mika Kähönen Bruce M Psaty Jerome I Rotter Andrew J Slater Abbas Dehghan Harvey D White Santhi K Ganesh Ruth J F Loos Tõnu Esko Nauder Faraday James G Wilson Mary Cushman Andrew D Johnson Todd L Edwards Neil A Zakai Guillaume Lettre Alex P Reiner Paul L Auer

Am J Hum Genet 2016 Jul 23;99(1):22-39. Epub 2016 Jun 23.

Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI 53205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005433PMC
July 2016

PADRE: Pedigree-Aware Distant-Relationship Estimation.

Authors:
Jeffrey Staples David J Witherspoon Lynn B Jorde Deborah A Nickerson Jennifer E Below Chad D Huff

Am J Hum Genet 2016 07 30;99(1):154-62. Epub 2016 Jun 30.

Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005450PMC
July 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Authors:
Robert C Green Katrina A B Goddard Gail P Jarvik Laura M Amendola Paul S Appelbaum Jonathan S Berg Barbara A Bernhardt Leslie G Biesecker Sawona Biswas Carrie L Blout Kevin M Bowling Kyle B Brothers Wylie Burke Charlisse F Caga-Anan Arul M Chinnaiyan Wendy K Chung Ellen W Clayton Gregory M Cooper Kelly East James P Evans Stephanie M Fullerton Levi A Garraway Jeremy R Garrett Stacy W Gray Gail E Henderson Lucia A Hindorff Ingrid A Holm Michelle Huckaby Lewis Carolyn M Hutter Pasi A Janne Steven Joffe David Kaufman Bartha M Knoppers Barbara A Koenig Ian D Krantz Teri A Manolio Laurence McCullough Jean McEwen Amy McGuire Donna Muzny Richard M Myers Deborah A Nickerson Jeffrey Ou Donald W Parsons Gloria M Petersen Sharon E Plon Heidi L Rehm J Scott Roberts Dan Robinson Joseph S Salama Sarah Scollon Richard R Sharp Brian Shirts Nancy B Spinner Holly K Tabor Peter Tarczy-Hornoch David L Veenstra Nikhil Wagle Karen Weck Benjamin S Wilfond Kirk Wilhelmsen Susan M Wolf Julia Wynn Joon-Ho Yu

Am J Hum Genet 2016 07;99(1):246

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http://dx.doi.org/10.1016/j.ajhg.2016.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005464PMC
July 2016