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Publications

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)
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)
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)
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)
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)
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)
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance., Bonnen, Penelope E., Yarham John W., Besse Arnaud, Wu Ping, Faqeih Eissa A., Al-Asmari Ali Mohammad, Saleh Mohammad A. M., Eyaid Wafaa, Hadeel Alrukban, He Langping, et al. , American journal of human genetics, 2013 Sep 5, Volume 93, Issue 3, p.471-81, (2013) Abstract
Metastasis tumor-associated protein 2 enhances metastatic behavior and is associated with poor outcomes in estrogen receptor-negative breast cancer., Covington, Kyle R., Brusco Lauren, Barone Ines, Tsimelzon Anna, Selever Jennifer, Corona-Rodriguez Arnoldo, Brown Powel, Kumar Rakesh, Hilsenbeck Susan G., and Fuqua Suzanne A. W. , Breast cancer research and treatment, 2013 Sep 28, (2013) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations., Liu, Xiaoming, Jian Xueqiu, and Boerwinkle Eric , Human mutation, 2013 Sep, Volume 34, Issue 9, p.E2393-402, (2013) Abstract
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles., Boone, Philip M., Campbell Ian M., Baggett Brett C., Soens Zachry T., Rao Mitchell M., Hixson Patricia M., Patel Ankita, Bi Weimin, Cheung Sau Wai, Lalani Seema R., et al. , Genome research, 2013 Sep, Volume 23, Issue 9, p.1383-94, (2013) Abstract
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida., Agopian, A. J., Bhalla Angela D., Boerwinkle Eric, Finnell Richard H., Grove Megan L., Hixson James E., Shimmin Lawrence C., Sewda Anshuman, Stuart Colin, Zhong Yu, et al. , Birth defects research. Part A, Clinical and molecular teratology, 2013 Sep, Volume 97, Issue 9, p.597-601, (2013) Abstract
Longitudinal study shows increasing obesity and hyperglycemia in micronesia., Murdock, David, Salit Jacqueline, Stoffel Markus, Friedman Jeffrey M., Pe'er Itsik, Breslow Jan L., and Bonnen Penelope E. , Obesity (Silver Spring, Md.), 2013 Sep, Volume 21, Issue 9, p.E421-7, (2013) Abstract
APOE Modulates the Correlation Between Triglycerides, Cholesterol, and CHD Through Pleiotropy and Gene-by-Gene Interactions., Maxwell, Taylor J., Ballantyne Christie M., Cheverud James M., Guild Cameron S., Ndumele Chiadi E., and Boerwinkle Eric , Genetics, 2013 Oct 4, (2013) Abstract
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements., Wang, Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H., Sun Vincent, Keser Vafa, Bowne Sara J., Sullivan Lori S., Luo Hongrong, Zhao Ling, et al. , Human genetics, 2013 Oct 24, (2013) Abstract
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D., Okamoto, Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R., Gonzaga-Jauregui Claudia, Muzny Donna M., Atik Mehmed M., Carvalho Claudia M. B., Matur Zeliha, Bayraktar Serife, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Oct 17, (2013) Abstract
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly., Gonzaga-Jauregui, Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M., Pehlivan Davut, Hunter Jill V., Woodbury Suzanne L., Raymond Gerald, Adesina Adekunle M., et al. , JAMA neurology, 2013 Oct 14, (2013) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Weinstein, John N., Collisson Eric A., Mills Gordon B., Shaw Kenna Mills R., Ozenberger Brad A., Ellrott Kyle, Shmulevich Ilya, Sander Chris, and Stuart Joshua M. , Nature genetics, 2013 Oct, Volume 45, Issue 10, p.1113-20, (2013) Abstract
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing., Wang, Xia, Wang Hui, Sun Vincent, Tuan Han-Fang, Keser Vafa, Wang Keqing, Ren Huanan, Lopez Irma, Zaneveld Jacques E., Siddiqui Sorath, et al. , Journal of medical genetics, 2013 Oct, Volume 50, Issue 10, p.674-88, (2013) Abstract
Detection of clinically relevant copy number variants with whole-exome sequencing., de Ligt, Joep, Boone Philip M., Pfundt Rolph, Vissers Lisenka E. L. M., Richmond Todd, Geoghegan Joel, O'Moore Kathleen, de Leeuw Nicole, Shaw Christine, Brunner Han G., et al. , Human mutation, 2013 Oct, Volume 34, Issue 10, p.1439-48, (2013) Abstract


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