Karolak, Justyna A.; Vincent, Marie; Deutsch, Gail; Gambin, Tomasz; Cogne, Benjamin; Pichon, Olivier; Vetrini, Francesco; Mefford, Heather C.; Dines, Jennifer N.; Golden-Grant, Katie; Dipple, Katrina; Freed, Amanda S.; Leppig, Kathleen A.; Dishop, Megan; Mowat, David; Bennetts, Bruce; Gifford, Andrew J.; Weber, Martin A.; Lee, Anna F.; Boerkoel, Cornelius F.; Bartell, Tina M.; Ward-Melver, Catherine; Besnard, Thomas; Petit, Florence; Bache, Iben; Tumer, Zeynep; Denis-Musquer, Marie; Joubert, Madeleine; Martinovic, Jelena; Beneteau, Claire; Molin, Arnaud; Carles, Dominique; Andre, Gwenaelle; Bieth, Eric; Chassaing, Nicolas; Devisme, Louise; Chalabreysse, Lara; Pasquier, Laurent; Secq, Veronique; Don, Massimiliano; Orsaria, Maria; Missirian, Chantal; Mortreux, Jeremie; Sanlaville, Damien; Pons, Linda; Kury, Sebastien; Bezieau, Stephane; Liet, Jean-Michel; Joram, Nicolas; Bihouee, Tiphaine; Scott, Daryl A.; Brown, Chester W.; Scaglia, Fernando; Tsai, Anne Chun-Hui; Grange, Dorothy K.; Phillips, John A., III; Pfotenhauer, Jean P.; Jhangiani, Shalini N.; Gonzaga-Jauregui, Claudia G.; Chung, Wendy K.; Schauer, Galen M.; Lipson, Mark H.; Mercer, Catherine L.; van Haeringen, Arie; Liu, Qian; Popek, Edwina; Akdemir, Zeynep H. Coban; Lupski, James R.; Szafranski, Przemyslaw; Isidor, Bertrand; Le Caignec, Cedric; Stankiewicz, Pawe

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

HUMAN MUTATION

IF3.7

2018-08-2213

OAAI

Szafranski, Przemyslaw; Kosmider, Ewelina; Liu, Qian; Karolak, Justyna A.; Currie, Lauren; Parkash, Sandhya; Kahler, Stephen G.; Roeder, Elizabeth; Littlejohn, Rebecca O.; DeNapoli, Thomas S.; Shardonofsky, Felix R.; Henderson, Cody; Powers, George; Poisson, Virginie; Berube, Denis; Oligny, Luc; Michaud, Jacques L.; Janssens, Sandra; De Coen, Kris; Van Dorpe, Jo; Dheedene, Annelies; Harting, Matthew T.; Weaver, Matthew D.; Khan, Amir M.; Tatevian, Nina; Wambach, Jennifer; Gibbs, Kathleen A.; Popek, Edwina; Gambin, Anna; Stankiewicz, Pawel

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

接受双侧肺移植的肺泡毛细血管发育异常伴肺静脉错位的非典型表现的婴儿

JOURNAL OF PEDIATRICS

IF3.5

2018-03-0157

OAAI

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-10-0165

OAAI

Stankiewicz, Pawel; Khan, Tahir N.; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A.; Brown, Chester W.; Rosenfeld, Jill A.; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L.; Parsons, Donald W.; Plon, Sharon E.; Vieira, Marta W.; Quaio, Caio R. D. C.; Baratela, Wagner A. R.; Acosta Guio, Johanna C.; Armstrong, Ruth; Mehta, Sarju G.; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M.; Shinde, Deepali N.; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Bacino, Carlos A.; Xiao, Rui; Breman, Amy M.; Smith, Janice L.; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E.; Yang, Yaping

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (vol 136, pg 377, 2017)

HUMAN GENETICS

IF3.6

2017-06-285

OAAI

Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A.; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M.; Komara, Makanko; Ali, Bassam R.; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S.; Manchester, David K.; Magoulas, Pilar; King, Lauren E.; Hannig, Vickie; Bonneau, Dominique; Denomme-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stephane; Cogne, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A.; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M.; Lupski, James R.; Yang, Yaping; Patel, Ankita; Lalani, Seema R.; Xia, Fan; Stankiewicz, Pawel

Przemysław Szafrański

个人简介

教育背景

工作经历

荣誉奖项

研究方向