Search Results - "Patterson, Karynne E"

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features by Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.

“…The pace of Mendelian gene discovery is slowed by the “n-of-1 problem”—the difficulty of establishing the causality of a putatively pathogenic variant in a…”
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation by Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery B, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Jr, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E

“…Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a precise molecular diagnosis after comprehensive clinical genetic…”
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Sequencing of sporadic Attention‐Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder by Kim, Daniel Seung, Burt, Amber A., Ranchalis, Jane E., Wilmot, Beth, Smith, Joshua D., Patterson, Karynne E., Coe, Bradley P., Li, Yatong K., Bamshad, Michael J., Nikolas, Molly, Eichler, Evan E., Swanson, James M., Nigg, Joel T., Nickerson, Deborah A., Jarvik, Gail P.

“…Attention‐Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from…”
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Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population by Cai, Yi, Patterson, Karynne E., Reinier, Frederic, Keesecker, Sarah E., Blue, Elizabeth, Bamshad, Michael, Haddad, Joseph

“…Background The majority of cleft lip with or without cleft palate cases appear as an isolated, nonsyndromic entity (NSCLP). With the advent of next generation…”
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities by Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

“…Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population…”
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Copy Number Changes Identified Using Whole Exome Sequencing in Non-Syndromic Cleft Lip and Palate in a Honduran Population by Cai, Yi, Patterson, Karynne E, Reinier, Frederic, Keesecker, Sarah E, Blue, Elizabeth, Bamshad, Michael, Haddad, Joseph

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