Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

gan Li, Ruijuan, Sobreira, Nara, Witmer, P. Dane, Pratz, Keith W., Braunstein, Evan M.
Cyhoeddwyd yn Haematologica (2016)

Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss

gan Ramzan, Memoona, Idrees, Hafiza, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf
Cyhoeddwyd yn Gene (2019)

Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan

gan Ramzan, Memoona, Bashir, Rasheeda, Salman, Midhat, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf
Cyhoeddwyd yn Sci Rep (2020)

miRNA Mutations are Not a Common Cause of Deafness

gan Hildebrand, Michael S., Witmer, P. Dane, Xu, Shunbin, Newton, Stephen S., Kahrizi, Kimia, Najmabadi, Hossein, Valle, David, Smith, Richard J.H.
Cyhoeddwyd 2010

The utility of exome sequencing for fetal pleural effusions

gan Jelin, Angie C., Sobreira, Nara, Wohler, Elizabeth, Solomon, Benjamin, Sparks, Teresa, Sagaser, Katelynn G, Forster, Katherine R., Miller, Jena, Witmer, P. Dane, Hamosh, Ada, Valle, David, Blakemore, Karin
Cyhoeddwyd yn Prenat Diagn (2020)

Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next Generation Sequencing

gan Marosy, Beth A., Craig, Brian D., Hetrick, Kurt N., Witmer, P. Dane, Ling, Hua, Griffith, Sean M., Myers, Ben, Ostrander, Elaine A., Stanford, Janet L., Brody, Lawrence C., Doheny, Kimberly F.
Cyhoeddwyd yn Curr Protoc Hum Genet (2017)

Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration

gan Lumayag, Stephen, Haldin, Caroline E., Corbett, Nicola J., Wahlin, Karl J., Cowan, Colleen, Turturro, Sanja, Larsen, Peter E., Kovacs, Beatrix, Witmer, P. Dane, Valle, David, Zack, Donald J., Nicholson, Daniel A., Xu, Shunbin
Cyhoeddwyd 2013

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

gan Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia
Cyhoeddwyd yn Am J Med Genet A (2014)

Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance

gan Schnappauf, Oskar, Zhou, Qing, Moura, Natalia Sampaio, Ombrello, Amanda K., Michael, Drew G., Deuitch, Natalie, Barron, Karyl, Stone, Deborah L., Hoffmann, Patrycja, Hershfield, Michael, Applegate, Carolyn, Bjornsson, Hans T., Beck, David B., Witmer, P. Dane, Sobreira, Nara, Wohler, Elizabeth, Chiorini, John A., Dalgard, Clifton L., Kastner, Daniel L., Aksentijevich, Ivona
Cyhoeddwyd yn J Clin Immunol (2020)

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma

gan Shindo, Koji, Yu, Jun, Suenaga, Masaya, Fesharakizadeh, Shahriar, Cho, Christy, Macgregor-Das, Anne, Siddiqui, Abdulrehman, Witmer, P. Dane, Tamura, Koji, Song, Tae Jun, Navarro Almario, Jose Alejandro, Brant, Aaron, Borges, Michael, Ford, Madeline, Barkley, Thomas, He, Jin, Weiss, Matthew J., Wolfgang, Christopher L., Roberts, Nicholas J., Hruban, Ralph H., Klein, Alison P., Goggins, Michael
Cyhoeddwyd yn J Clin Oncol (2017)

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

gan Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., Backer, Julie De
Cyhoeddwyd yn J Am Coll Cardiol (2018)

Insights into genetics, human biology and disease gleaned from family based genomic studies

gan Posey, Jennifer E, O’Donnell-Luria, Anne H, Chong, Jessica X, Harel, Tamar, Jhangiani, Shalini N, Akdemir, Zeynep H Coban, Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M B, Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A, Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G, Gibbs, Richard A, Hamosh, Ada, Lifton, Richard P, Matise, Tara C, Rehm, Heidi L, Gerstein, Mark, Bamshad, Michael J, Valle, David, Lupski, James R
Cyhoeddwyd yn Genet Med (2019)

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

gan 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.
Cyhoeddwyd yn Am J Hum Genet (2015)

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

gan Dyment, David A., O’Donnell-Luria, Anne, Agrawal, Pankaj B., Akdemir, Zeynep Coban, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B.A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini, Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M.E. Suzanne, Lowry, R. Brian, López-Giráldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Minaur, Sixto Garcia, Jukka Moilanen, Nguyen, An, Nowaczyk, Malgorzata J.M., Posey, Jennifer, Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Rodovalho Doriqui, Maria Juliana, Sawyer S, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil
Cyhoeddwyd yn Am J Med Genet A (2020)