Deborah Nickerson

Deborah Nickerson

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Deborah Nickerson

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

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.

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

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

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

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

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.

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

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

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

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://www.nature.com/articles/s41588-018-0286-6
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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

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

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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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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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

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

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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http://dx.doi.org/10.1002/ajmg.a.40647DOI Listing
December 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

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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https://linkinghub.elsevier.com/retrieve/pii/S00029297183032
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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 variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

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

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

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.

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.

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

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

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.

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

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

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

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

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.

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.

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.

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

Identification of ASAH1 as a susceptibility gene for familial keloids.

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.

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

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

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

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

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.

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

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

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.

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

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.

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

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

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.

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.

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