Y-Chromosome Variation in Altaian Kazakhs Reveals a Common Paternal Gene Pool for Kazakhs and the Influence of Mongolian Expansions

por Dulik, Matthew C., Osipova, Ludmila P., Schurr, Theodore G.
Publicado 2011

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

por Lalonde, Emilie, Rentas, Stefan, Lin, Fumin, Dulik, Matthew C., Skraban, Cara M., Spinner, Nancy B.
Publicado 2020

Dissecting the Within-Africa Ancestry of Populations of African Descent in the Americas

por Stefflova, Klara, Dulik, Matthew C., Barnholtz-Sloan, Jill S., Pai, Athma A., Walker, Amy H., Rebbeck, Timothy R.
Publicado 2011

Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina

por Schurr, Theodore G., Dulik, Matthew C., Cafaro, Thamara A., Suarez, María F., Urrets-Zavalia, Julio A., Serra, Horacio M.
Publicado 2013

Evaluation of Group Genetic Ancestry of Populations from Philadelphia and Dakar in the Context of Sex-Biased Admixture in the Americas

por Stefflova, Klara, Dulik, Matthew C., Pai, Athma A., Walker, Amy H., Zeigler-Johnson, Charnita M., Gueye, Serigne M., Schurr, Theodore G., Rebbeck, Timothy R.
Publicado 2009

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

por Masino, Aaron J, Dechene, Elizabeth T, Dulik, Matthew C, Wilkens, Alisha, Spinner, Nancy B, Krantz, Ian D, Pennington, Jeffrey W, Robinson, Peter N, White, Peter S
Publicado 2014

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

por Xie, Hongbo M, Perin, Juan C, Schurr, Theodore G, Dulik, Matthew C, Zhadanov, Sergey I, Baur, Joseph A, King, Michael P, Place, Emily, Clarke, Colleen, Grauer, Michael, Schug, Jonathan, Santani, Avni, Albano, Anthony, Kim, Cecilia, Procaccio, Vincent, Hakonarson, Hakon, Gai, Xiaowu, Falk, Marni J
Publicado 2011

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S...

por Gustafson, Margaret A., McCormick, Elizabeth M., Perera, Lalith, Longley, Matthew J., Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C., McCormack, Shana E., Laskin, Benjamin L., Leroy, Bart P., Ortiz-Gonzalez, Xilma R., Ellington, Meredith G., Copeland, William C., Falk, Marni J.
Publicado 2019

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

por Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2015

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

por Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.
Publicado 2015

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

por Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.
Publicado 2018

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

por Porter, Kathryn M., Kauffman, Tia L., Koenig, Barbara A., Lewis, Katie L., Rehm, Heidi L., Richards, Carolyn Sue, Strande, Natasha T., Tabor, Holly K., Wolf, Susan M., Yang, Yaping, Amendola, Laura M., Azzariti, Danielle R., Berg, Jonathan S., Bergstrom, Katie, Biesecker, Leslie G., Biswas, Sawona, Bowling, Kevin M., Chung, Wendy K., Clayton, Ellen W., Conlin, Laura K., Cooper, Gregory M., Dulik, Matthew C., Garraway, Levi A., Ghazani, Arezou A., Green, Robert C., Hiatt, Susan M., Jamal, Seema M., Jarvik, Gail P., Goddard, Katrina A. B., Wilfond, Benjamin S.
Publicado 2018

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

por Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.
Publicado 2022

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado 2015