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Selected Publications

2014

A framework for the interpretation of de novo mutation in human disease, Samocha, Kaitlin E., Robinson Elise B., Sanders Stephan J., Stevens Christine, Sabo Aniko, McGrath Lauren M., Kosmicki Jack A., Rehnström Karola, Mallick Swapan, Kirby Andrew, et al. , Nature Genetics, 8/2014, Volume 46, Issue 9, p.944 - 950, (2014)
Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes, Li, Quan, Liu Xiaoming, Gibbs Richard A., Boerwinkle Eric, Polychronakos Constantin, and Qu Hui-Qi , PLoS ONE, 8/2014, Volume 9, Issue 8, p.e104452, (2014)
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators, Bellott, Daniel W., Hughes Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Cho Ting-Jan, Koutseva Natalia, Zaghlul Sara, Graves Tina, Rock Susie, et al. , Nature, 4/2014, Volume 508, Issue 7497, p.494 - 499, (2014)
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Wangler, Michael F., Gonzaga-Jauregui Claudia, Gambin Tomasz, Penney Samantha, Moss Timothy, Chopra Atul, Probst Frank J., Xia Fan, Yang Yaping, Werlin Steven, et al. , PLoS Genetics, 3/2014, Volume 10, Issue 3, p.e1004258, (2014)
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera., Wang, L., Swierczek S. I., Lanikova L., Kim Sj, Hickman K., Walker K., Wang K., Drummond J., Doddapaneni H., Reid J. G., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.938-41, (2014)
Nasopharyngeal Proteobacteria are associated with viral etiology and acute wheezing in children with severe bronchiolitis., Hyde, Embriette R., Petrosino Joseph F., Piedra Pedro A., Camargo Carlos A., Espinola Janice A., and Mansbach Jonathan M. , The Journal of allergy and clinical immunology, 2014 Apr, Volume 133, Issue 4, p.1220-1222.e3, (2014)
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes., Wang, L., Swierczek S. I., Drummond J., Hickman K., Kim Sj, Walker K., Doddapaneni H., Muzny D. M., Gibbs R. A., Wheeler D. A., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.935-8, (2014)
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia, Murali, Chaya, Lu James T., Jain Mahim, Liu David S., Lachman Ralph, Gibbs Richard A., Lee Brendan H., Cohn Daniel, and Campeau Philippe M. , Molecular Genetics and Metabolism Reports, 2014, Volume 1, p.213 - 219, (2014)
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes, Totoki, Yasushi, Tatsuno Kenji, Covington Kyle R., Ueda Hiroki, Creighton Chad J., Kato Mamoru, Tsuji Shingo, Donehower Lawrence A., Slagle Betty L., Nakamura Hiromi, et al. , Nature Genetics, 11/2014, (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing, Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 11/2014, Volume 312, Issue 18, p.1870, (2014)
Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease, , New England Journal of Medicine, 11/2014, p.141112140016008, (2014)
Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia, Stray-Pedersen, Asbjørg, Backe Paul H., Sorte Hanne S., Mørkrid Lars, Chokshi Niti Y., Erichsen Hans Christian, Gambin Tomasz, Elgstøen Katja B.P., Bjørås Magnar, Wlodarski Marcin W., et al. , The American Journal of Human Genetics, 07/2014, Volume 95, Issue 1, p.96 - 107, (2014)
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers, Pickering, C. R., Zhang J., Neskey D. M., Zhao M., Jasser S. A., Wang J., Ward A., Tsai C. J., Ortega Alves M. V., Zhou J. H., et al. , Clinical Cancer Research, 07/2014, Volume 20, Issue 14, p.3842 - 3848, (2014)
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines, Huang, W., Massouras A., Inoue Y., Peiffer J., Ramia M., Tarone A. M., Turlapati L., Zichner T., Zhu D., Lyman R. F., et al. , Genome Research, 07/2014, Volume 24, Issue 7, p.1193 - 1208, (2014)
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population, Gonzaga-Jauregui, Claudia, Gamble Candace N., Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M., Gibbs Richard A., Lupski James R., and Hecht Jacqueline T. , European Journal of Human Genetics, 07/2014, (2014)
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations, Rainger, Joe, Pehlivan Davut, Johansson Stefan, Bengani Hemant, Sanchez-Pulido Luis, Williamson Kathleen A., Ture Mehmet, Barker Heather, Rosendahl Karen, Spranger Jürgen, et al. , The American Journal of Human Genetics, 06/2014, Volume 94, Issue 6, p.915 - 923, (2014)
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome, Lindstrand, Anna, Davis Erica E., Carvalho Claudia M.B., Pehlivan Davut, Willer Jason R., Tsai I-Chun, Ramanathan Subhadra, Zuppan Craig, Sabo Aniko, Muzny Donna, et al. , The American Journal of Human Genetics, 05/2014, Volume 94, Issue 5, p.745 - 754, (2014)
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway, Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in Medicine, 03/2014, (2014)
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35, Boonma, Prapaporn, Spinler Jennifer K., Qin Xiang, Jittaprasatsin Chutima, Muzny Donna M., Doddapaneni Harsha, Gibbs Richard, Petrosino Joe, Tumwasorn Somying, and Versalovic James , Standards in Genomic Sciences, 02/2014, Volume 9, Issue 3, p.744 - 754, (2014)
Association of exome sequences with plasma C-reactive protein levels in >9000 participants, Schick, U. M., Auer P. L., Bis J. C., Lin H., Wei P., Pankratz N., Lange L. A., Brody J., Stitziel N. O., Kim D. S., et al. , Human Molecular Genetics, (2014)
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
Genomic Characterization of Sinonasal Undifferentiated Carcinoma, Takahashi, Yoko, Pickering Curtis, Gelbard Alexander, Drummond Jennifer, Wheeler David A., Kupferman Michael E., Myers Jeffrey N., and Hanna Ehab Y. , Journal of Neurological Surgery Part B: Skull Base, Volume 75, Number S 01, p.A084, (2014)

2013

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol, Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature Genetics, 6/2013, Volume 45, Issue 8, p.899 - 901, (2013)
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional., Green, Robert C., Lupski James R., and Biesecker Leslie G. , JAMA : the journal of the American Medical Association, 2013 Jul 24, Volume 310, Issue 4, p.365-6, (2013)


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