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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo; Mourao, Andre Santos Dias; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M.; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara; Prokisch, Holger; Jech, Robert; Winkelmann, Juliane Share Save
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, Francesco Share Save
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L.; Wang, Harold Z.; Currall, Benjamin B.; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E.; Whelan, Christopher W.; Hao, Stephanie P.; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L.; Zhao, Xuefang; Austin-Tse, Christina A.; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S.; Lucente, Diane; Gauthier, Laura D.; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E.; Mackenzie, Tippi C.; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C.; Brandt, Alicia; Vetrini, Francesco; Divito, Michelle; Sanders, Stephan J.; Macarthur, Daniel G.; Hodge, Jennelle C.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Vora, Neeta L.; Levy, Brynn; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E. Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Elgersma, Ype; van Esbroeck, Annelot C. M. Share Save
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De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia Treat, Kayla; Jangam, Sharayu; Yamamoto, Shinya; White, Kerry; Kanca, Oguz; Christensen, Celanie; Lynch, Sally; Baptista, Julia; Tsang, Mandy H. Y.; Jay, Kristy; Chung, Brian H. Y.; Yuen, Liz Y. P.; Chui, Martin M. C.; Bellen, Hugo; Wangler, Michael; Conboy, Erin; Vetrini, Francesco Share Save
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Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX A GeT-RM Collaborative Project Pratt, Victoria M.; Turner, Amy; Broeckel, Ulrich; Dawson, D. Brian; Gaedigk, Andrea; Lynnes, Ty C.; Medeiros, Elizabeth B.; Moyer, Ann M.; Requesens, Deborah; Vetrini, Francesco; Kalman, Lisa, V Share Save
Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants Shibao, Cyndya A.; Joos, Karen; Phillips, John A.; Cogan, Joy; Newman, John H.; Hamid, Rizwan; Meiler, Jens; Capra, John; Sheehan, Jonathan; Vetrini, Francesco; Yang, Yaping; Black, Bonnie; Diedrich, Andre; Roberston, David; Biaggioni, Italo Share Save
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing A Genetic Testing Reference Materials Coordination Program Collaborative Project Prior, Thomas W.; Bayrak-Toydemir, Pinar; Lynnes, Ty C.; Mao, Rong; Metcalf, James D.; Muralidharan, Kasinathan; Iwata-Otsubo, Aiko; Pham, Ha T.; Pratt, Victoria M.; Qureshi, Shumaila; Requesens, Deborah; Shen, Junqing; Vetrini, Francesco; Kalman, Lisa Share Save
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms Barish, Scott; Barakat, Tahsin Stefan; Michel, Brittany C.; Mashtalir, Nazar; Phillips, Jennifer B.; Valencia, Alfredo M.; Ugur, Berrak; Wegner, Jeremy; Scott, Tiana M.; Bostwick, Brett; Murdock, David R.; Dai, Hongzheng; Perenthaler, Elena; Nikoncuk, Anita; van Slegtenhorst, Marjon; Brooks, Alice S.; Keren, Boris; Nava, Caroline; Mignot, Cyril; Douglas, Jessica; Rodan, Lance; Nowak, Catherine; Ellard, Sian; Stals, Karen; Lynch, Sally Ann; Faoucher, Marie; Lesca, Gaetan; Edery, Patrick; Engleman, Kendra L.; Zhou, Dihong; Thiffault, Isabelle; Herriges, John; Gass, Jennifer; Louie, Raymond J.; Stolerman, Elliot; Washington, Camerun; Vetrini, Francesco; Otsubo, Aiko; Pratt, Victoria M.; Conboy, Erin; Treat, Kayla; Shannon, Nora; Camacho, Jose; Wakeling, Emma; Yuan, Bo; Chen, Chun-An; Rosenfeld, Jill A.; Westerfield, Monte; Wangler, Michael; Yamamoto, Shinya; Kadoch, Cigall; Scott, Daryl A.; Bellen, Hugo J. Share Save
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A.; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A.; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A.; Eng, Christine M.; Yang, Yaping; Lupski, James R.; Bi, Weimin Share Save
Reanalysis of Clinical Exome Sequencing Data Liu, Pengfei; Meng, Linyan; Normand, Elizabeth A.; Xia, Fan; Song, Xiaofei; Ghazi, Andrew; Rosenfeld, Jill; Magoulas, Pilar L.; Braxton, Alicia; Ward, Patricia; Dai, Hongzheng; Yuan, Bo; Bi, Weimin; Xiao, Rui; Wang, Xia; Chiang, Theodore; Vetrini, Francesco; He, Weimin; Cheng, Hanyin; Dong, Jie; Gijavanekar, Charul; Benke, Paul J.; Bernstein, Jonathan A.; Eble, Tanya; Eroglu, Yasemen; Erwin, Deanna; Escobar, Luis; Gibson, James B.; Gripp, Karen; Kleppe, Soledad; Koenig, Mary K.; Lewis, Andrea M.; Natowicz, Marvin; Mancias, Pedro; Minor, LaKeesha; Scaglia, Fernando; Schaaf, Christian P.; Streff, Haley; Vernon, Hilary; Uhles, Crescenda L.; Zackai, Elaine H.; Wu, Nan; Sutton, V. Reid; Beaudet, Arthur L.; Muzny, Donna; Gibbs, Richard A.; Posey, Jennifer E.; Lalani, Seema; Shaw, Chad; Eng, Christine M.; Lupski, James R.; Yang, Yaping Share Save
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway 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 Share Save
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al-Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; Wu, Kaman; Al-Jasmi, Fatma; Helmstaedter, Martin; Arnold, Sebastian J.; Xia, Fan; Richmond, Christopher; Liu, Pengfei; Karimiani, Ehsan Ghayoor; Madani, GholamReza Karami; Lunke, Sebastian; El-Shanti, Hatem; Eng, Christine M.; Antonarakis, Stylianos E.; Hertecant, Jozef; Walkiewicz, Magdalena; Yang, Yaping; Schmidts, Miriam Share Save
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females Wang, Xia; Posey, Jennifer E.; Rosenfeld, Jill A.; Bacino, Carlos A.; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M.; Hickey, Scott E.; Mosher, Theresa M.; Slavotinek, Anne; Zhang, Jing; Beuten, Joke; Leduc, Magalie S.; He, Weimin; Vetrini, Francesco; Walkiewicz, Magdalena A.; Bi, Weimin; Xiao, Rui; Liu, Pengfei; Shao, Yunru; Gezdirici, Alper; Gulec, Elif Y.; Jiang, Yunyun; Darilek, Sandra A.; Hansen, Adam W.; Khayat, Michael M.; Pehlivan, Davut; Piard, Juliette; Muzny, Donna M.; Hanchard, Neil; Belmont, John W.; Van Maldergem, Lionel; Gibbs, Richard A.; Eldomery, Mohammad K.; Akdemir, Zeynep C.; Adesina, Adekunle M.; Chen, Shan; Lee, Yi-Chien; Lee, Brendan; Lupski, James R.; Eng, Christine M.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Moretti, Paolo Share Save
Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management Meng, Linyan; Pammi, Mohan; Saronwala, Anirudh; Magoulas, Pilar; Ghazi, Andrew Ray; Vetrini, Francesco; Zhang, Jing; He, Weimin; Dharmadhikari, Avinash V.; Qu, Chunjing; Ward, Patricia; Braxton, Alicia; Narayanan, Swetha; Ge, Xiaoyan; Tokita, Mari J.; Santiago-Sim, Teresa; Dai, Hongzheng; Chiang, Theodore; Smith, Hadley; Azamian, Mahshid S.; Robak, Laurie; Bostwick, Bret L.; Schaaf, Christian P.; Potocki, Lorraine; Scaglia, Fernando; Bacino, Carlos A.; Hanchard, Neil A.; Wangler, Michael F.; Scott, Daryl; Brown, Chester; Hu, Jianhong; Belmont, John W.; Burrage, Lindsay C.; Graham, Brett H.; Sutton, Vernon Reid; Craigen, William J.; Plon, Sharon E.; Lupski, James R.; Beaudet, Arthur L.; Gibbs, Richard A.; Muzny, Donna M.; Miller, Marcus J.; Wang, Xia; Leduc, Magalie S.; Xiao, Rui; Liu, Pengfei; Shaw, Chad; Walkiewicz, Magdalena; Bi, Weimin; Xia, Fan; Lee, Brendan; Eng, Christine M.; Yang, Yaping; Lalani, Seema R. Share Save
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