Publications by authors named "Suzanne M Leal"

100Publications

Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.

Ann Clin Transl Neurol 2020 Sep 20. Epub 2020 Sep 20.

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.

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http://dx.doi.org/10.1002/acn3.51201DOI Listing
September 2020

A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease.

Eur J Hum Genet 2020 Aug 1. Epub 2020 Aug 1.

Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1038/s41431-020-0703-zDOI Listing
August 2020

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.

Genes (Basel) 2020 Jun 23;11(6). Epub 2020 Jun 23.

Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.3390/genes11060687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349314PMC
June 2020

A non-coding RNASEH1 gene variant associates with type 1 diabetes and interacts with HLA tagSNPs in families from Colombia.

Pediatr Diabetes 2020 May 23. Epub 2020 May 23.

Grupo Mapeo Genetico, Departamento de Pediatria, Universidad de Antioquia, Medellín, Colombia.

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http://dx.doi.org/10.1111/pedi.13057DOI Listing
May 2020

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

Exp Mol Pathol 2020 Aug 21;115:104471. Epub 2020 May 21.

University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.

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http://dx.doi.org/10.1016/j.yexmp.2020.104471DOI Listing
August 2020

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.

Ear Hear 2020 Jul/Aug;41(4):983-989

Neurogenomics Division and Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.

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http://dx.doi.org/10.1097/AUD.0000000000000819DOI Listing
January 2020

Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia.

World J Diabetes 2019 Nov;10(11):534-545

Grupo Mapeo Genetico, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín 050010470, Colombia.

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http://dx.doi.org/10.4239/wjd.v10.i11.534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885725PMC
November 2019

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

J Hum Genet 2020 Jan 28;65(2):187-192. Epub 2019 Oct 28.

Center of 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/s10038-019-0691-4DOI Listing
January 2020

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.

Am J Hum Genet 2019 10;105(4):822-835

Center for Statistical Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neurology, Taub Institute on Alzheimer Disease and the Aging Brain, and Gertrude H. Sergievsky Center, Columbia University, New York, NY 10027, USA; Center for Statistical Genetics, Columbia University, New York, NY 10027, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817540PMC
October 2019

A Start Codon Variant in Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes.

Case Rep Genet 2019 22;2019:2836263. Epub 2019 Jul 22.

Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1155/2019/2836263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679842PMC
July 2019

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Eur J Hum Genet 2019 09 3;27(9):1456-1465. Epub 2019 May 3.

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

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http://www.nature.com/articles/s41431-019-0417-2
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http://dx.doi.org/10.1038/s41431-019-0417-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777454PMC
September 2019

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy.

J Child Neurol 2019 08 23;34(9):491-498. Epub 2019 Apr 23.

1 Grupo Mapeo Genético, Facultad de Medicina, Universidad de Antioquia, Medellin-Colombia.

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http://dx.doi.org/10.1177/0883073819842422DOI Listing
August 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

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

MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data.

Bioinformatics 2019 02;35(3):529-531

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

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http://dx.doi.org/10.1093/bioinformatics/bty542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397596PMC
February 2019

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

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

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Eur J Dermatol 2018 Apr;28(2):209-216

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, 45320, Pakistan.

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http://dx.doi.org/10.1684/ejd.2017.3210DOI Listing
April 2018

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

Ann Hum Genet 2018 05 10;82(3):129-134. Epub 2018 Jan 10.

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

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http://dx.doi.org/10.1111/ahg.12233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141004PMC
May 2018

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

SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data.

Am J Hum Genet 2017 Jul 29;101(1):115-122. Epub 2017 Jun 29.

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.2017.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501866PMC
July 2017

From exomes to genomes: challenges and solutions in population-based genetic association studies.

Eur J Hum Genet 2017 04 25;25(4):395-396. Epub 2017 Jan 25.

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

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http://dx.doi.org/10.1038/ejhg.2016.206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386426PMC
April 2017

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.

Am J Hum Genet 2017 02 5;100(2):193-204. Epub 2017 Jan 5.

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.2016.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294711PMC
February 2017

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

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

J Am Heart Assoc 2016 07 14;5(7). Epub 2016 Jul 14.

Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands

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http://dx.doi.org/10.1161/JAHA.115.002603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015357PMC
July 2016

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

Frequency and Complexity of De Novo Structural Mutation in Autism.

Am J Hum Genet 2016 Apr 24;98(4):667-79. Epub 2016 Mar 24.

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833290PMC
April 2016

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Circ Res 2016 Mar 12;118(6):928-34. Epub 2016 Jan 12.

From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.307130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839295PMC
March 2016

The effect of phenotypic outliers and non-normality on rare-variant association testing.

Eur J Hum Genet 2016 08 6;24(8):1188-94. Epub 2016 Jan 6.

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

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http://dx.doi.org/10.1038/ejhg.2015.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970685PMC
August 2016

Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits.

Bioinformatics 2015 Nov 14;31(22):3706-8. Epub 2015 Jul 14.

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

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btv412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757949PMC
November 2015

Genome-wide association study of platelet aggregation in African Americans.

BMC Genet 2015 May 30;16:58. Epub 2015 May 30.

Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, Pennsylvania, 19107, USA.

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http://dx.doi.org/10.1186/s12863-015-0217-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448541PMC
May 2015

Excess of rare, inherited truncating mutations in autism.

Nat Genet 2015 Jun 11;47(6):582-8. Epub 2015 May 11.

1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449286PMC
June 2015

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data.

Eur J Hum Genet 2015 Dec 15;23(12):1739-43. Epub 2015 Apr 15.

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/ejhg.2015.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795207PMC
December 2015

Genetic linkage analysis in the age of whole-genome sequencing.

Nat Rev Genet 2015 May 31;16(5):275-84. Epub 2015 Mar 31.

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

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http://dx.doi.org/10.1038/nrg3908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440411PMC
May 2015

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

Stroke 2014 Nov 2;45(11):3200-7. Epub 2014 Oct 2.

From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston (A.C.C., D.G., Z.R., K.F., E.S.R., H.P., D.M.M.); Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L., G.T.W.); Department of Genome Sciences (J.S., M.J.B., D.A.N.) and Department of Pediatrics (M.J.B.), University of Washington, Seattle; Department of Neurosurgery, Stanford University, CA (G.K.S.); and Clinical Innovation and Research Institute, Memorial Hermann Hospital, Houston, TX (J.C.G.).

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http://dx.doi.org/10.1161/STROKEAHA.114.006244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420622PMC
November 2014

Novel somatic and germline mutations in intracranial germ cell tumours.

Nature 2014 Jul 4;511(7508):241-5. Epub 2014 Jun 4.

1] Texas Children's Cancer and Hematology Centers, Baylor College of Medicine, Houston, Texas 77030, USA [2] Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas 77030, USA [3] Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nature13296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4532372PMC
July 2014

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data.

Am J Hum Genet 2014 May;94(5):770-83

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.2014.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067555PMC
May 2014

Power analysis and sample size estimation for sequence-based association studies.

Bioinformatics 2014 Aug 28;30(16):2377-8. Epub 2014 Apr 28.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine and Department of Bioinformatics and Computational Biology, The University of Texas, M D Anderson Cancer Center, Houston, TX 77030, USA.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133582PMC
August 2014

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.

Am J Hum Genet 2014 Jan 19;94(1):33-46. Epub 2013 Dec 19.

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.2013.11.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882934PMC
January 2014

Effect of catechol-o-methyltransferase-gene (COMT) variants on experimental and acute postoperative pain in 1,000 women undergoing surgery for breast cancer.

Anesthesiology 2013 Dec;119(6):1422-33

* Student, Department of Anaesthesia, Intensive Care Medicine, Emergency Medicine and Pain Medicine, Helsinki University Central Hospital, Helsinki, Finland, and Department of Pharmacology and Toxicology, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland. † Senior Researcher, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, and Folkhälsan Institute of Genetics, Folkhälsan Research Center. ‡ Student, ‖ Professor, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, and Department of Chronic Disease Prevention, National Institute for Health and Welfare. § Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. # Professor, Department of Anaesthesia, Intensive Care Medicine, Emergency Medicine and Pain Medicine, Helsinki University Central Hospital.

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http://dx.doi.org/10.1097/ALN.0000000000000013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869072PMC
December 2013

PhenoMan: phenotypic data exploration, selection, management and quality control for association studies of rare and common variants.

Bioinformatics 2014 Feb 12;30(3):442-4. Epub 2013 Dec 12.

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

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btt682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904519PMC
February 2014

Identifying rare variants associated with complex traits via sequencing.

Curr Protoc Hum Genet 2013 Jul;Chapter 1:Unit 1.26

Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1002/0471142905.hg0126s78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830981PMC
July 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Testing for rare variant associations in the presence of missing data.

Genet Epidemiol 2013 Sep 11;37(6):529-38. Epub 2013 Jun 11.

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

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http://doi.wiley.com/10.1002/gepi.21736
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http://dx.doi.org/10.1002/gepi.21736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459641PMC
September 2013

A unified method for detecting secondary trait associations with rare variants: application to sequence data.

PLoS Genet 2012 15;8(11):e1003075. Epub 2012 Nov 15.

Department of Biostatistics, Center of Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499373PMC
May 2013

Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations.

Am J Hum Genet 2012 Oct 27;91(4):585-96. Epub 2012 Sep 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484659PMC
October 2012

SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits.

Bioinformatics 2012 Oct 22;28(20):2703-4. Epub 2012 Aug 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/bioinformatics/bts499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3467746PMC
October 2012

A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.

Genet Epidemiol 2012 Nov 3;36(7):675-85. Epub 2012 Aug 3.

Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1002/gepi.21662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240912PMC
November 2012