Andrea M Lewis

Andrea M Lewis

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Andrea M Lewis

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Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.

Authors:
Elizabeth Thomas Andrea M Lewis Yaping Yang Sirisak Chanprasert Lorraine Potocki Daryl A Scott

J Pediatr Genet 2019 Dec 9;8(4):244-251. Epub 2019 Jul 9.

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

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http://dx.doi.org/10.1055/s-0039-1693151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824885PMC
December 2019

Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.

Authors:
Sei-Gyung K Sze Howard M Lederman Thomas O Crawford Michael F Wangler Andrea M Lewis Michael B Kastan Harpreet K Dibra Alexander M R Taylor Daniel S Wechsler

J Pediatr Hematol Oncol 2019 Nov 14. Epub 2019 Nov 14.

Department of Pediatrics, Aflac Cancer & Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA.

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http://dx.doi.org/10.1097/MPH.0000000000001672DOI Listing
November 2019

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Authors:
Elisa Rahikkala Matti Myllykoski Reetta Hinttala Päivi Vieira Naemeh Nayebzadeh Simone Weiss Astrid S Plomp Reginald E Bittner Mitja I Kurki Outi Kuismin Andrea M Lewis Marja-Leena Väisänen Hannaleena Kokkonen Jonne Westermann Günther Bernert Hannu Tuominen Aarno Palotie Lauri Aaltonen Yaping Yang Lorraine Potocki Jukka Moilanen Silvana van Koningsbruggen Xia Wang Wolfgang M Schmidt Peppi Koivunen Johanna Uusimaa

Genet Med 2019 10 3;21(10):2355-2363. Epub 2019 Apr 3.

PEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.

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http://www.nature.com/articles/s41436-019-0503-4
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http://dx.doi.org/10.1038/s41436-019-0503-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774999PMC
October 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Reanalysis of Clinical Exome Sequencing Data.

Authors:
Pengfei Liu Linyan Meng Elizabeth A Normand Fan Xia Xiaofei Song Andrew Ghazi Jill Rosenfeld Pilar L Magoulas Alicia Braxton Patricia Ward Hongzheng Dai Bo Yuan Weimin Bi Rui Xiao Xia Wang Theodore Chiang Francesco Vetrini Weimin He Hanyin Cheng Jie Dong Charul Gijavanekar Paul J Benke Jonathan A Bernstein Tanya Eble Yasemen Eroglu Deanna Erwin Luis Escobar James B Gibson Karen Gripp Soledad Kleppe Mary K Koenig Andrea M Lewis Marvin Natowicz Pedro Mancias LaKeesha Minor Fernando Scaglia Christian P Schaaf Haley Streff Hilary Vernon Crescenda L Uhles Elaine H Zackai Nan Wu V Reid Sutton Arthur L Beaudet Donna Muzny Richard A Gibbs Jennifer E Posey Seema Lalani Chad Shaw Christine M Eng James R Lupski Yaping Yang

N Engl J Med 2019 06;380(25):2478-2480

Baylor College of Medicine, Houston, TX

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http://dx.doi.org/10.1056/NEJMc1812033DOI Listing
June 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Authors:
Chong Sun Jie Song Yanjun Jiang Chongbo Zhao Jiahong Lu Yuxin Li Yin Wang Mingshi Gao Jianying Xi Sushan Luo Meixia Li Kevin Donaldson Stephanie N Oprescu Thomas P Slavin Sansan Lee Pilar L Magoulas Andrea M Lewis Lisa Emrick Seema R Lalani Zhiyv Niu Megan L Landsverk Magdalena Walkiewicz Richard E Person Hui Mei Jill A Rosenfeld Yaping Yang Anthony Antonellis Ya-Ming Hou Jie Lin Victor W Zhang

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Authors:
Francesco Vetrini Shane McKee Jill A Rosenfeld Mohnish Suri Andrea M Lewis Kimberly Margaret Nugent Elizabeth Roeder Rebecca O Littlejohn Sue Holder Wenmiao Zhu Joseph T Alaimo Brett Graham Jill M Harris James B Gibson Matthew Pastore Kim L McBride Makanko Komara Lihadh Al-Gazali Aisha Al Shamsi Elizabeth A Fanning Klaas J Wierenga Daryl A Scott Ziva Ben-Neriah Vardiella Meiner Hanoch Cassuto Orly Elpeleg J Lloyd Holder Lindsay C Burrage Laurie H Seaver Lionel Van Maldergem Sonal Mahida Janet S Soul Margaret Marlatt Ludmila Matyakhina Julie Vogt June-Anne Gold Soo-Mi Park Vinod Varghese Anne K Lampe Ajith Kumar Melissa Lees Muriel Holder-Espinasse Vivienne McConnell Birgitta Bernhard Ed Blair Victoria Harrison Donna M Muzny Richard A Gibbs Sarah H Elsea Jennifer E Posey Weimin Bi Seema Lalani Fan Xia Yaping Yang Christine M Eng James R Lupski Pengfei Liu

Genome Med 2019 03 25;11(1):16. Epub 2019 Mar 25.

Baylor Genetics, Houston, TX, 77021, USA.

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http://dx.doi.org/10.1186/s13073-019-0630-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434874PMC
March 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Authors:
Raphael Carapito Ekaterina L Ivanova Aurore Morlon Linyan Meng Anne Molitor Eva Erdmann Bruno Kieffer Angélique Pichot Lydie Naegely Aline Kolmer Nicodème Paul Antoine Hanauer Frédéric Tran Mau-Them Nolwenn Jean-Marçais Susan M Hiatt Gregory M Cooper Tatiana Tvrdik Alison M Muir Clémantine Dimartino Maya Chopra Jeanne Amiel Christopher T Gordon Fabien Dutreux Aurore Garde Christel Thauvin-Robinet Xia Wang Magalie S Leduc Meredith Phillips Heather P Crawford Mary K Kukolich David Hunt Victoria Harrison Mira Kharbanda Robert Smigiel Nina Gold Christina Y Hung David H Viskochil Sarah L Dugan Pinar Bayrak-Toydemir Géraldine Joly-Helas Anne-Marie Guerrot Caroline Schluth-Bolard Marlène Rio Ingrid M Wentzensen Kirsty McWalter Rhonda E Schnur Andrea M Lewis Seema R Lalani Noël Mensah-Bonsu Jocelyn Céraline Zijie Sun Rafal Ploski Carlos A Bacino Heather C Mefford Laurence Faivre Olaf Bodamer Jamel Chelly Bertrand Isidor Seiamak Bahram

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Authors:
Francesco Vetrini Shane McKee Jill A Rosenfeld Mohnish Suri Andrea M Lewis Kimberly Margaret Nugent Elizabeth Roeder Rebecca O Littlejohn Sue Holder Wenmiao Zhu Joseph T Alaimo Brett Graham Jill M Harris James B Gibson Matthew Pastore Kim L McBride Makanko Komara Lihadh Al-Gazali Aisha Al Shamsi Elizabeth A Fanning Klaas J Wierenga Daryl A Scott Ziva Ben-Neriah Vardiella Meiner Hanoch Cassuto Orly Elpeleg J Lloyd Holder Lindsay C Burrage Laurie H Seaver Lionel Van Maldergem Sonal Mahida Janet S Soul Margaret Marlatt Ludmila Matyakhina Julie Vogt June-Anne Gold Soo-Mi Park Vinod Varghese Anne K Lampe Ajith Kumar Melissa Lees Muriel Holder-Espinasse Vivienne McConnell Birgitta Bernhard Ed Blair Victoria Harrison Donna M Muzny Richard A Gibbs Sarah H Elsea Jennifer E Posey Weimin Bi Seema Lalani Fan Xia Yaping Yang Christine M Eng James R Lupski Pengfei Liu

Genome Med 2019 02 28;11(1):12. Epub 2019 Feb 28.

Baylor Genetics, Houston, TX, 77021, USA.

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http://dx.doi.org/10.1186/s13073-019-0623-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393995PMC
February 2019

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Authors:
Kai Lee Yap Amy E Knight Johnson David Fischer Priscilla Kandikatla Jacea Deml Viswateja Nelakuditi Sara Halbach George S Jeha Lindsay C Burrage Olaf Bodamer Valeria C Benavides Andrea M Lewis Sian Ellard Pratik Shah Declan Cody Alejandro Diaz Aishwarya Devarajan Lisa Truong Siri Atma W Greeley Diva D De Leó-Crutchlow Andrew C Edmondson Soma Das Paul Thornton Darrel Waggoner Daniela Del Gaudio

Genet Med 2019 01 15;21(1):233-242. Epub 2018 Jun 15.

Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1038/s41436-018-0013-9DOI Listing
January 2019

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Authors:
Kai Lee Yap Amy E Knight Johnson David Fischer Priscilla Kandikatla Jacea Deml Viswateja Nelakuditi Sara Halbach George S Jeha Lindsay C Burrage Olaf Bodamer Valeria C Benavides Andrea M Lewis Sian Ellard Pratik Shah Declan Cody Alejandro Diaz Aishwarya Devarajan Lisa Truong Siri Atma W Greeley Diva D De Leon Andrew C Edmondson Soma Das Paul Thornton Darrel Waggoner Daniela Del Gaudio

Genet Med 2019 01;21(1):262-265

Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.

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http://www.nature.com/articles/s41436-018-0126-1
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http://dx.doi.org/10.1038/s41436-018-0126-1DOI Listing
January 2019

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Authors:
Mari J Tokita Chun-An Chen David Chitayat Ellen Macnamara Jill A Rosenfeld Neil Hanchard Andrea M Lewis Chester W Brown Ronit Marom Yunru Shao Danica Novacic Lynne Wolfe Colleen Wahl Cynthia J Tifft Camilo Toro Jonathan A Bernstein Caitlin L Hale Julia Silver Louanne Hudgins Amitha Ananth Andrea Hanson-Kahn Shirley Shuster Pilar L Magoulas Vipulkumar N Patel Wenmiao Zhu Stella M Chen Yanjun Jiang Pengfei Liu Christine M Eng Dominyka Batkovskyte Alberto di Ronza Marco Sardiello Brendan H Lee Christian P Schaaf Yaping Yang Xia Wang

Am J Hum Genet 2018 07 28;103(1):154-162. Epub 2018 Jun 28.

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035372PMC
July 2018

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Authors:
Valerie K Jordan Brieana Fregeau Xiaoyan Ge Jessica Giordano Ronald J Wapner Tugce B Balci Melissa T Carter John A Bernat Amanda N Moccia Anshika Srivastava Donna M Martin Stephanie L Bielas John Pappas Melissa D Svoboda Marlène Rio Nathalie Boddaert Vincent Cantagrel Andrea M Lewis Fernando Scaglia Jennefer N Kohler Jonathan A Bernstein Annika M Dries Jill A Rosenfeld Colette DeFilippo Willa Thorson Yaping Yang Elliott H Sherr Weimin Bi Daryl A Scott

Hum Mutat 2018 05 25;39(5):666-675. Epub 2018 Jan 25.

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/humu.23400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903952PMC
May 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Authors:
Hanyin Cheng Avinash V Dharmadhikari Sylvia Varland Ning Ma Deepti Domingo Robert Kleyner Alan F Rope Margaret Yoon Asbjørg Stray-Pedersen Jennifer E Posey Sarah R Crews Mohammad K Eldomery Zeynep Coban Akdemir Andrea M Lewis Vernon R Sutton Jill A Rosenfeld Erin Conboy Katherine Agre Fan Xia Magdalena Walkiewicz Mauro Longoni Frances A High Marjon A van Slegtenhorst Grazia M S Mancini Candice R Finnila Arie van Haeringen Nicolette den Hollander Claudia Ruivenkamp Sakkubai Naidu Sonal Mahida Elizabeth E Palmer Lucinda Murray Derek Lim Parul Jayakar Michael J Parker Stefania Giusto Emanuela Stracuzzi Corrado Romano Jennifer S Beighley Raphael A Bernier Sébastien Küry Mathilde Nizon Mark A Corbett Marie Shaw Alison Gardner Christopher Barnett Ruth Armstrong Karin S Kassahn Anke Van Dijck Geert Vandeweyer Tjitske Kleefstra Jolanda Schieving Marjolijn J Jongmans Bert B A de Vries Rolph Pfundt Bronwyn Kerr Samantha K Rojas Kym M Boycott Richard Person Rebecca Willaert Evan E Eichler R Frank Kooy Yaping Yang Joseph C Wu James R Lupski Thomas Arnesen Gregory M Cooper Wendy K Chung Jozef Gecz Holly A F Stessman Linyan Meng Gholson J Lyon

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Authors:
Yanyan Peng Deepali N Shinde C Alexander Valencia Jun-Song Mo Jill Rosenfeld Megan Truitt Cho Adam Chamberlin Zhuo Li Jie Liu Baoheng Gui Rachel Brockhage Alice Basinger Brenda Alvarez-Leon Peter Heydemann Pilar L Magoulas Andrea M Lewis Fernando Scaglia Solange Gril Shuk Ching Chong Matthew Bower Kristin G Monaghan Rebecca Willaert Maria-Renee Plona Rich Dineen Francisca Milan George Hoganson Zoe Powis Katherine L Helbig Jennifer Keller-Ramey Belinda Harris Laura C Anderson Torrian Green Stacey J Sukoff Rizzo Julie Kaylor Jiani Chen Min-Xin Guan Elizabeth Sellars Steven P Sparagana James B Gibson Laura G Reinholdt Sha Tang Taosheng Huang

Hum Mol Genet 2017 12;26(24):4937-4950

Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.

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https://academic.oup.com/hmg/article/26/24/4937/4356565
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http://dx.doi.org/10.1093/hmg/ddx377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886230PMC
December 2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Authors:
Elizabeth E Palmer Raman Kumar Christopher T Gordon Marie Shaw Laurence Hubert Renee Carroll Marlène Rio Lucinda Murray Melanie Leffler Tracy Dudding-Byth Myriam Oufadem Seema R Lalani Andrea M Lewis Fan Xia Allison Tam Richard Webster Susan Brammah Francesca Filippini John Pollard Judy Spies Andre E Minoche Mark J Cowley Sarah Risen Nina N Powell-Hamilton Jessica E Tusi LaDonna Immken Honey Nagakura Christine Bole-Feysot Patrick Nitschké Alexandrine Garrigue Geneviève de Saint Basile Emma Kivuva Richard H Scott Augusto Rendon Arnold Munnich William Newman Bronwyn Kerr Claude Besmond Jill A Rosenfeld Jeanne Amiel Michael Field Jozef Gecz

Am J Hum Genet 2017 Dec 30;101(6):995-1005. Epub 2017 Nov 30.

School of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia; Healthy Mothers and Babies, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812890PMC
December 2017

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Authors:
Michael D Fountain Emmelien Aten Megan T Cho Jane Juusola Magdalena A Walkiewicz Joseph W Ray Fan Xia Yaping Yang Brett H Graham Carlos A Bacino Lorraine Potocki Arie van Haeringen Claudia A L Ruivenkamp Pedro Mancias Hope Northrup Mary K Kukolich Marjan M Weiss Conny M A van Ravenswaaij-Arts Inge B Mathijssen Sebastien Levesque Naomi Meeks Jill A Rosenfeld Danielle Lemke Ada Hamosh Suzanne K Lewis Simone Race Laura L Stewart Beverly Hay Andrea M Lewis Rita L Guerreiro Jose T Bras Marcia P Martins Gerarda Derksen-Lubsen Els Peeters Connie Stumpel Sander Stegmann Levinus A Bok Gijs W E Santen Christian P Schaaf

Genet Med 2017 01 19;19(1):45-52. Epub 2016 May 19.

Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2016.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116288PMC
January 2017

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Authors:
Lijiang Ma Yavuz Bayram Heather M McLaughlin Megan T Cho Alyson Krokosky Clesson E Turner Kristin Lindstrom Caleb P Bupp Katey Mayberry Weiyi Mu Joann Bodurtha Veronique Weinstein Neda Zadeh Wendy Alcaraz Zöe Powis Yunru Shao Daryl A Scott Andrea M Lewis Janson J White Shalani N Jhangiani Elif Yilmaz Gulec Seema R Lalani James R Lupski Kyle Retterer Rhonda E Schnur Ingrid M Wentzensen Sherri Bale Wendy K Chung

Hum Genet 2016 12 28;135(12):1399-1409. Epub 2016 Sep 28.

Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s00439-016-1731-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663278PMC
December 2016

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Authors:
Mari J Tokita Alicia A Braxton Yunru Shao Andrea M Lewis Marie Vincent Sébastien Küry Thomas Besnard Bertrand Isidor Xénia Latypova Stéphane Bézieau Pengfei Liu Connie S Motter Catherine Ward Melver Nathaniel H Robin Elena M Infante Marianne McGuire Areeg El-Gharbawy Rebecca O Littlejohn Scott D McLean Weimin Bi Carlos A Bacino Seema R Lalani Daryl A Scott Christine M Eng Yaping Yang Christian P Schaaf Magdalena A Walkiewicz

Am J Hum Genet 2016 09 18;99(3):720-727. Epub 2016 Aug 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77021, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011061PMC
September 2016