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收藏分享 收藏 分享 收藏 Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Wertheim-Tysarowska, Katarzyna; Osipowicz, Katarzyna; Wozniak, Katarzyna; Sawicka, Justyna; Mika, Adrianna; Kutkowska-Kazmierczak, Anna; Niepokoj, Katarzyna; Sobczynska-Tomaszewska, Agnieszka; Wawrzycki, Bartlomiej; Pietrzak, Aldona; Smigiel, Robert; Wojtas, Bartosz; Gielniewski, Bartlomiej; Szabelska-Beresewicz, Alicja; Zyprych-Walczak, Joanna; Rygiel, Agnieszka Magdalena; Domaszewicz, Alicja; Braun-Walicka, Natalia; Grabarczyk, Alicja; Rzonca-Niewczas, Sylwia; Lidia, Ruszkowska; Dawidziuk, Mateusz; Domanski, Dominik; Gambin, Tomasz; Jackiewicz, Monika; Duk, Katarzyna; Dorozko, Barbara; Szczygielski, Orest; Krzesniak, Natalia; Noszczyk, Bartlomiej H.; Obersztyn, Ewa; Wierzba, Jolanta; Barczyk, Artur; Castaneda, Jennifer; Eckersdorf-Mastalerz, Anna; Jakubiuk-Tomaszuk, Anna; Wlasienko, Pawel; Jaszczuk, Ilona; Jezela-Stanek, Aleksandra; Klapecki, Jakub; van Geel, Michel; Kowalewski, Cezary; Bal, Jerzy; Gostynski, Antoni 分享 收藏 HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataDu, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M.; Jhangiani, Shalini N.; Li, He; Muzny, Donna; Fatih, Jawid M.; Yesil, Gozde; Elcioglu, Nursel H.; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R. 分享 收藏 分享 收藏 Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung developmentSzafranski, Przemyslaw; Majewski, Tadeusz; Bolukbasi, Esra Yildiz; Gambin, Tomasz; Karolak, Justyna A.; Cortes-Santiago, Nahir; Bruckner, Markus; Amann, Gabriele; Weis, Denisa; Stankiewicz, Pawel 分享 收藏 Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variantBolukbasi, Esra Yildiz; Karolak, Justyna A.; Szafranski, Przemyslaw; Gambin, Tomasz; Matsika, Admire; McManus, Sam; Scott, Hamish S.; Arts, Peer; Ha, Thuong; Barnett, Christopher P.; Rodgers, Jonathan; Stankiewicz, Pawel 分享 收藏 分享 收藏 Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing datasetDomogala, Daniel D.; Gambin, Tomasz; Zemet, Roni; Wu, Chung Wah; Schulze, Katharina, V; Yang, Yaping; Wilson, Theresa A.; Machol, Ido; Liu, Pengfei; Stankiewicz, Pawel 分享 收藏 分享 收藏 Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsGambin, Tomasz; Liu, Qian; Karolak, Justyna A.; Grochowski, Christopher M.; Xie, Nina G.; Wu, Lucia R.; Yan, Yan Helen; Cao, Ye; Akdemir, Zeynep H. Coban; Wilson, Theresa A.; Jhangiani, Shalini N.; Chen, Ed; Eng, Christine M.; Muzny, Donna; Posey, Jennifer E.; Yang, Yaping; Zhang, David Y.; Shaw, Chad; Liu, Pengfei; Lupski, James R.; Stankiewicz, Pawel 分享 收藏 Integrated sequencing and array comparative genomic hybridization in familial Parkinson diseaseRobak, Laurie A.; Du, Renqian; Yuan, Bo; Gu, Shen; Alfradique-Dunham, Isabel; Kondapalli, Vismaya; Hinojosa, Evelyn; Stillwell, Amanda; Young, Emily; Zhang, Chaofan; Song, Xiaofei; Du, Haowei; Gambin, Tomasz; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Muzny, Donna M.; Tejomurtula, Anusha; Ross, Owen A.; Shaw, Chad; Jankovic, Joseph; Bi, Weimin; Posey, Jennifer E.; Lupski, James R.; Shulman, Joshua M. 分享 收藏 Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental DisordersVincent, Marie; Karolak, Justyna A.; Deutsch, Gail; Gambin, Tomasz; Popek, Edwina; Isidor, Bertrand; Szafranski, Przemyslaw; Le Caignec, Cedric; Stankiewicz, Pawel 分享 收藏 Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersMitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Akdemir, Zeynep Coban; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V.; Hijazi, Hadia; Grochowski, Christopher M.; Jhangiani, Shalini N.; Karaca, Ender; Fatih, Jawid M.; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A.; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E.; Ropers, Hans-Hilger; Gibbs, Richard A.; Wiszniewski, Wojciech; Lupski, James R.; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel 分享 收藏 分享 收藏 A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency由ARPC1B缺陷引起的联合免疫缺陷与严重感染，炎症和过敏Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T. J.; Cuadrado, Eloy; Abu-Halaweh, Marwan; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Brigida, Immacolata; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dueckers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R.; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S.; Jacobsen, Eva-Maria; Jansen, Machiel H.; King, Jovanka R.; Laxer, Ronald M.; Lupski, James R.; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B.; Niehues, Tim; Notarangelo, Luigi D.; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J.; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjorg; Tawamie, Hasan; van Leeuwen, Ester M. M.; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W. 分享 收藏 Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayKarolak, 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 分享 收藏 Genetic architecture of laterality defects revealed by whole exome sequencingLi, Alexander H.; Hanchard, Neil A.; Azamian, Mahshid; D'Alessandro, Lisa C. A.; Coban-Akdemir, Zeynep; Lopez, Keila N.; Hall, Nancy J.; Dickerson, Heather; Nicosia, Annarita; Fernbach, Susan; Boone, Philip M.; Gambin, Tomaz; Karaca, Ender; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N.; Doddapaneni, Harshavardhan; Huy, Jianhong; Dinh, Huyen; Jayaseelan, Joy; Muzny, Donna; Lalani, Seema; Towbin, Jeffrey; Penny, Daniel; Fraser, Charles; Martin, James; Lupski, James R.; Gibbs, Richard A.; Boerwinklels, Eric; Ware, Stephanie M.; Belmont, John W. 分享 收藏 Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C geneLenska-Mieciek, Marta; Charzewska, Agnieszka; Krolicki, Leszek; Hoffman-Zacharska, Dorota; Chen, Zhefan Stephen; Lau, Kwok-Fai; Chan, Ho Yin Edwin; Gambin, Tomasz; Fiszer, Urszula 分享 收藏 
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