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ArticlesPeer ReviewedFull Text
Copy Number Variation in Familial Parkinson Disease
Author / Creator:Pankratz, Nathan ; Dumitriu, Alexandra ; Hetrick, Kurt N. ; Sun, Mei ; Latourelle, Jeanne C. ; Wilk, Jemma B. ; Halter, Cheryl ; Doheny, Kimberly F. ; Gusella, James F. ; Nichols, William C. ; Myers, Richard H. ; Foroud, Tatiana ; DeStefano, Anita L.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-08, Vol.6 (8), p.e20988
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ArticlesPeer ReviewedFull Text
Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics
Author / Creator:Jurgens, Julie ; Ling, Hua ; Hetrick, Kurt ; Pugh, Elizabeth ; Schiettecatte, Francois ; Doheny, Kimberly ; Hamosh, Ada ; Avramopoulos, Dimitri ; Valle, David ; Sobreira, Nara
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-10, Vol.17 (10), p.782-788
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Mutations in Alström protein impair terminal differentiation of cardiomyocytes
Author / Creator:Shenje, Lincoln T. ; Andersen, Peter ; Halushka, Marc K. ; Lui, Cecillia ; Fernandez, Laviel ; Collin, Gayle B. ; Amat-Alarcon, Nuria ; Meschino, Wendy ; Cutz, Ernest ; Chang, Kenneth ; Yonescu, Raluca ; Batista, Denise A. S. ; Chen, Yan ; Chelko, Stephen ; Crosson, Jane E. ; Scheel, Janet ; Vricella, Luca ; Craig, Brian D. ; Marosy, Beth A. ; Mohr, David W. ; Hetrick, Kurt N. ; Romm, Jane M. ; Scott, Alan F. ; Valle, David ; Naggert, Jürgen K. ; Kwon, Chulan ; Doheny, Kimberly F. ; Judge, Daniel P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-03, Vol.5 (1), p.3416-3416, Article 3416
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ArticlesPeer ReviewedFull Text
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families
Author / Creator:Moldenhauer Minillo, Renata ; Sobreira, Nara ; de Fatima de Faria Soares, Maria ; Jurgens, Julie ; Ling, Hua ; Hetrick, Kurt N. ; Doheny, Kimberly F. ; Valle, David ; Brunoni, Decio ; Alvarez Perez, Ana B.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Molecular syndromology, 2014-12, Vol.5 (6), p.268-275
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ArticlesPeer ReviewedFull Text
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Author / Creator:Laurie, Cathy C ; Laurie, Cecelia A ; Rice, Kenneth ; Doheny, Kimberly F ; Zelnick, Leila R ; McHugh, Caitlin P ; Ling, Hua ; Hetrick, Kurt N ; Pugh, Elizabeth W ; Amos, Chris ; Wei, Qingyi ; Wang, Li-e ; Lee, Jeffrey E ; Barnes, Kathleen C ; Hansel, Nadia N ; Mathias, Rasika ; Daley, Denise ; Beaty, Terri H ; Scott, Alan F ; Ruczinski, Ingo ; Scharpf, Rob B ; Bierut, Laura J ; Hartz, Sarah M ; Landi, Maria Teresa ; Freedman, Neal D ; Goldin, Lynn R ; Ginsburg, David ; Li, Jun ; Desch, Karl C ; Strom, Sara S ; Blot, William J ; Signorello, Lisa B ; Ingles, Sue A ; Chanock, Stephen J ; Berndt, Sonja I ; Le Marchand, Loic ; Henderson, Brian E ; Monroe, Kristine R ; Heit, John A ; de Andrade, Mariza ; Armasu, Sebastian M ; Regnier, Cynthia ; Lowe, William L ; Hayes, M Geoffrey ; Marazita, Mary L ; Feingold, Eleanor ; Murray, Jeffrey C ; Melbye, Mads ; Feenstra, Bjarke ; Kang, Jae H ; Wiggs, Janey L ; Jarvik, Gail P ; McDavid, Andrew N ; Seshan, Venkatraman E ; Mirel, Daniel B ; Crenshaw, Andrew ; Sharopova, Nataliya ; Wise, Anastasia ; Shen, Jess ; Crosslin, David R ; Levine, David M ; Zheng, Xiuwen ; Udren, Jenna I ; Bennett, Siiri ; Nelson, Sarah C ; Gogarten, Stephanie M ; Conomos, Matthew P ; Heagerty, Patrick ; Manolio, Teri ; Pasquale, Louis R ; Haiman, Christopher A ; Caporaso, Neil ; Weir, Bruce S
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.642-650
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ArticlesPeer ReviewedFull Text
Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants
Author / Creator:Scott, Laura J ; Mohlke, Karen L ; Bonnycastle, Lori L ; Willer, Cristen J ; Li, Yun ; Duren, William L ; Erdos, Michael R ; Stringham, Heather M ; Chines, Peter S ; Jackson, Anne U ; Prokunina-Olsson, Ludmila ; Ding, Chia-Jen ; Swift, Amy J ; Narisu, Narisu ; Hu, Tianle ; Pruim, Randall ; Xiao, Rui ; Li, Xiao-Yi ; Conneely, Karen N ; Riebow, Nancy L ; Sprau, Andrew G ; Tong, Maurine ; White, Peggy P ; Hetrick, Kurt N ; Barnhart, Michael W ; Bark, Craig W ; Goldstein, Janet L ; Watkins, Lee ; Xiang, Fang ; Saramies, Jouko ; Buchanan, Thomas A ; Watanabe, Richard M ; Valle, Timo T ; Kinnunen, Leena ; Abecasis, Gonçalo R ; Pugh, Elizabeth W ; Doheny, Kimberly F ; Bergman, Richard N ; Tuomilehto, Jaakko ; Collins, Francis S ; Boehnke, Michael
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2007-06, Vol.316 (5829), p.1341-1345
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ArticlesPeer ReviewedFull Text
Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans
Author / Creator:Olfson, E ; Saccone, N L ; Johnson, E O ; Chen, L-S ; Culverhouse, R ; Doheny, K ; Foltz, S M ; Fox, L ; Gogarten, S M ; Hartz, S ; Hetrick, K ; Laurie, C C ; Marosy, B ; Amin, N ; Arnett, D ; Barr, R G ; Bartz, T M ; Bertelsen, S ; Borecki, I B ; Brown, M R ; Chasman, D I ; van Duijn, C M ; Feitosa, M F ; Fox, E R ; Franceschini, N ; Franco, O H ; Grove, M L ; Guo, X ; Hofman, A ; Kardia, S L R ; Morrison, A C ; Musani, S K ; Psaty, B M ; Rao, D C ; Reiner, A P ; Rice, K ; Ridker, P M ; Rose, L M ; Schick, U M ; Schwander, K ; Uitterlinden, A G ; Vojinovic, D ; Wang, J-C ; Ware, E B ; Wilson, G ; Yao, J ; Zhao, W ; Breslau, N ; Hatsukami, D ; Stitzel, J A ; Rice, J ; Goate, A ; Bierut, L J
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2016-05, Vol.21 (5), p.601-607
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ArticlesPeer ReviewedFull Text
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia
Author / Creator:Braunstein, E M ; Li, R ; Sobreira, N ; Marosy, B ; Hetrick, K ; Doheny, K ; Gocke, C D ; Valle, D ; Brodsky, R A ; Cheng, L
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2016-11, Vol.30 (11), p.2242-2245
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ArticlesPeer ReviewedFull Text
Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm
Author / Creator:Farlow, Janice L. ; Lin, Hai ; Sauerbeck, Laura ; Lai, Dongbing ; Koller, Daniel L. ; Pugh, Elizabeth ; Hetrick, Kurt ; Ling, Hua ; Kleinloog, Rachel ; van der Vlies, Pieter ; Deelen, Patrick ; Swertz, Morris A. ; Verweij, Bon H. ; Regli, Luca ; Rinkel, Gabriel J. E. ; Ruigrok, Ynte M. ; Doheny, Kimberly ; Liu, Yunlong ; Broderick, Joseph ; Foroud, Tatiana
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0121104
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ArticlesPeer ReviewedFull Text
Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm: e0121104
Author / Creator:Farlow, Janice L ; Lin, Hai ; Sauerbeck, Laura ; Lai, Dongbing ; Koller, Daniel L ; Pugh, Elizabeth ; Hetrick, Kurt ; Ling, Hua ; Kleinloog, Rachel ; Vlies, Pieter vander
Journal title:PloS one, 2015-03, Vol.10 (3)
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ArticlesPeer ReviewedFull Text
Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data
Author / Creator:Ling, Hua ; Hetrick, Kurt ; Bailey-Wilson, Joan E ; Pugh, Elizabeth W
Publisher:England: BioMed Central
Journal title:BMC proceedings, 2009-12, Vol.3 (S7), p.S57-S57, Article S57
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Copy Number Variation in Familial Parkinson Disease

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Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes

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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

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Detectable clonal mosaicism from birth to old age and its relationship to cancer

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Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

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Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans

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A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

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Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

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Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm: e0121104

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Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data

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