Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Dane Witmer"'
Autor:
Ozlem Turedi, Jessica Tenney, Jacquelyn Britton, Lauren Meiss, Sonja Rasmussen, Erica Winnicki, Vivien Nguyen, Molly Sheridan, Dane Witmer
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101338- (2024)
Externí odkaz:
https://doaj.org/article/dc0078b87c994f5da943920297280ac5
Autor:
Michael Goggins, Marcia Irene Canto, Eun-Ji Shin, Anne-Marie Lennon, Michael Borges, Shahriar Fesharakizadeh, P. Dane Witmer, Christopher Zaykoski, Jose Alejandro Almario, Koji Tamura, Koji Shindo, Jun Yu, Masaya Suenaga
Purpose: The measurement of mutations in pancreatic juice samples collected from the duodenum during endoscopic ultrasound (EUS) may improve the diagnostic evaluation of patients undergoing pancreatic surveillance. Our aim was to evaluate the accurac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f52b12c1bae01102994d258468ead38
https://doi.org/10.1158/1078-0432.c.6525962
https://doi.org/10.1158/1078-0432.c.6525962
Autor:
Michael Goggins, Marcia Irene Canto, Eun-Ji Shin, Anne-Marie Lennon, Michael Borges, Shahriar Fesharakizadeh, P. Dane Witmer, Christopher Zaykoski, Jose Alejandro Almario, Koji Tamura, Koji Shindo, Jun Yu, Masaya Suenaga
Variants of unknown significance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965aef898caf03d86df3b7fd78194025
https://doi.org/10.1158/1078-0432.22465217
https://doi.org/10.1158/1078-0432.22465217
Autor:
Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
Publikováno v:
Genet Med
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15
https://doi.org/10.1016/j.gim.2021.12.005
https://doi.org/10.1016/j.gim.2021.12.005
Autor:
Rizwan Yousaf, Botond Banfi, Christophe Philippe, Azeddine Ibrahimi, Zunaira Munir, Oumaima Zarrik, Sophie Nambot, Inna A. Belyantseva, Nara Sobreria, Rasheeda Basheer, Souad Kartti, Cristina Fenollar-Ferrer, Yoko Nakano, Ayesha Imtiaz, Hafiza Idrees, Antonio Vitobello, Sebastien Moutton, Midhat Salman, P. Dane Witmer, Risa Tona, Sadaf Naz, Rabia Faridi, Thomas B. Friedman, Memoona Ramzan
Publikováno v:
Hum Mutat
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f68564ce171b0955324ddf9020a429
https://doi.org/10.1002/humu.24260
https://doi.org/10.1002/humu.24260
Autor:
Courtney Thaxton, Jennifer Goldstein, Marina DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa A. Haendel, Ada Hamosh, Heidi L. Rehm, Jonathan S. Berg
Publikováno v:
Cell genomics. 2(5)
The dilemma of how to categorize and classify diseases has been debated for centuries. The field of medical genetics has historically approached nosology based on clinical phenotypes observed in patients and families. Advances in genomic sequencing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07943ea7ca84874e87ff631cd25d5000
https://pubmed.ncbi.nlm.nih.gov/35754516
https://pubmed.ncbi.nlm.nih.gov/35754516
Autor:
Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, Deborah L. Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T. Bjornsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich
Publikováno v:
J Clin Immunol
PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that manifests with fever, early-onset vasculitis, strokes, and hematologic dysfunction. This study aimed to identify disease-causing variants by conventional San
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bcb89b72114bef13834111d62b6613
https://doi.org/10.1007/s10875-020-00817-3
https://doi.org/10.1007/s10875-020-00817-3
Autor:
Teresa N. Sparks, Jena L. Miller, Benjamin D. Solomon, Nara Sobreira, Angie C. Jelin, David Valle, Katherine R. Forster, Karin J. Blakemore, Elizabeth Wohler, Katelynn G. Sagaser, P. Dane Witmer, Ada Hamosh
Publikováno v:
Prenat Diagn
Objective We sought to evaluate the performance of exome sequencing (ES) in determining an underlying genetic etiology for cases of fetal pleural effusions. Study design We examined a prospective cohort series of fetal pleural effusions visualized so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2411a20879d36c427fda499152fb0c15
https://doi.org/10.1002/pd.5650
https://doi.org/10.1002/pd.5650
Autor:
Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
Publikováno v:
Am J Med Genet A
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257
https://hdl.handle.net/11424/243257
Autor:
Sadaf Naz, P. Dane Witmer, Midhat Salman, Memoona Ramzan, Ghulam Mujtaba, Nara Sobreira, Rasheeda Bashir
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Hearing loss affects 380 million people worldwide due to environmental or genetic causes. Determining the cause of deafness in individuals without previous family history of hearing loss is challenging and has been relatively unexplored in Pakistan.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4b17a1435802bd4e6b07f89ad47342a
https://doi.org/10.1038/s41598-020-68779-5
https://doi.org/10.1038/s41598-020-68779-5