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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension Copeland, Ian; Wonkam-Tingang, Edmond; Gupta-Malhotra, Monesha; Hashmi, S. Shahrukh; Han, Yixing; Jajoo, Aarti; Hall, Nancy J.; Hernandez, Paula P.; Lie, Natasha; Liu, Dan; Xu, Jun; Rosenfeld, Jill; Haldipur, Aparna; Desire, Zelene; Coban-Akdemir, Zeynep H.; Scott, Daryl A.; Li, Qing; Chao, Hsiao-Tuan; Zaske, Ana M.; Lupski, James R.; Milewicz, Dianna M.; Shete, Sanjay; Posey, Jennifer E.; Hanchard, Neil A. Share Save
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile Poli, M. Cecilia; Rebolledo-Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martin, Luz M.; Encina, Gonzalo; Bohme, Daniela; Faundes, Victor; Zavala, M. Jesus; Hasbun, Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; de la Cruz, Javiera; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; Martin, Esteban San; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, Gabriela M. Share Save
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Du, 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. Share Save
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects Petit, Florence; Longoni, Mauro; Wells, Julie; Maser, Richard S.; Bogenschutz, Eric L.; Dysart, Matthew J.; Contreras, Hannah T. M.; Frenois, Frederic; Pober, Barbara R.; Clark, Robin D.; Giampietro, Philip F.; Ropers, Hilger H.; Hu, Hao; Loscertales, Maria; Wagner, Richard; Ai, Xingbin; Brand, Harrison; Jourdain, Anne-Sophie; Delrue, Marie-Ange; Gilbert-Dussardier, Brigitte; Devisme, Louise; Keren, Boris; McCulley, David J.; Qiao, Lu; Hernan, Rebecca; Wynn, Julia; Scott, Tiana M.; Calame, Daniel G.; Coban-Akdemir, Zeynep; Hernandez, Patricia; Hernandez-Garcia, Andres; Yonath, Hagith; Lupski, James R.; Shen, Yufeng; Chung, Wendy K.; Scott, Daryl A.; Bult, Carol J.; Donahoe, Patricia K.; High, Frances A. Share Save
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study Holmstrom, Lauri; Chaudhary, Ninad S.; Nakamura, Kotoka; Chugh, Harpriya; Uy-Evanado, Audrey; Norby, Faye; Metcalf, Ginger A.; Menon, Vipin K.; Yu, Bing; Boerwinkle, Eric; Chugh, Sumeet S.; Akdemir, Zeynep; Kransdorf, Evan P. Share Save
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. Share Save
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M.; Duan, Ruizhi; Fatih, Jawid M.; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N.; Muzny, Donna M.; Koch, Andre; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A.; Dietrich, Jennifer E.; Van den Veyver, Ignatia B.; Dimas, Antigone S.; Brucker, Sara; Sutton, V. Reid; Gibbs, Richard A.; Antonarakis, Stylianos E.; Wu, Na; Coban-Akdemir, Zeynep H.; Zhu, Lan; Posey, Jennifer E.; Lupski, James R. Share Save
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M. R.; Sullivan, Jennifer A.; Asleh, Ayat N.; Mitra, Jaba; Dar, Mohamad A.; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A.; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R.; Littlejohn, Rebecca Okashah; Dibra, Harpreet K.; Byrd, Philip J.; Stewart, Grant S.; Geckinli, Bilgen B.; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E.; O'Donnell-Luria, Anne; Mau-Them, Frederic Tran; Juven, Aurelien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F.; Thauvin, Christel; Umanah, George K. Essien; Van Maldergem, Lionel; Lupski, James R.; Roscioli, Tony; Dawson, Valina L.; Dawson, Ted M.; Antonarakis, Stylianos E. Share Save
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome Faqeih, Eissa A.; Alghamdi, Malak Ali; Almahroos, Marwa A.; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M.; Clement, Prouteau; Calame, Daniel G.; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R.; Pastore, Annalisa; Peake, Roy W. A.; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A. M. Share Save
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions Hijazi, Hadia; Reis, Linda M.; Pehlivan, Davut; Bernstein, Jonathan A.; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A.; Gan-Or, Ziv; Rouleau, Guy A.; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnes; Bonneau, Dominique; van Jaarsveld, R. H.; Lachmeijer, A. M. A.; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Magorzata; Kepczynski, Lukasz; Poatynska, Katarzyna; Li, Yidan; Fatih, Jawid M.; Marafi, Dana; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A.; Hobson, Grace M.; Hunter, Jill V.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Semina, Elena V.; Lupski, James R. Share Save
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L. Share Save
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Ku spacing diaeresis ster-Hauser syndrome Ma, Congcong; Chen, Na; Jolly, Angad; Zhao, Sen; Coban-Akdemir, Zeynep; Tian, Weijie; Kang, Jia; Ye, Yang; Wang, Yuan; Koch, Andre; Zhang, Yuanqiang; Qin, Chenglu; Bonilla, Ximena; Borel, Christelle; Rall, Katharina; Chen, Zefu; Jhangiani, Shalini; Niu, Yuchen; Li, Xiaoxin; Qiu, Guixing; Zhang, Shuyang; Luo, Guangnan; Wu, Zhihong; Bacopoulou, Flora; Deligeoroglou, Efthymios; Zhang, Terry Jianguo; Rosenberg, Carla; Gibbs, Richard A.; Dietrich, Jennifer E.; Dimas, Antigone S.; Liu, Pengfei; Antonarakis, Stylianos E.; Brucker, Sara Y.; Posey, Jennifer E.; Lupski, James R.; Wu, Nan; Zhu, Lan Share Save
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Duan, Ruizhi; Hijazi, Hadia; Gulec, Elif Yilmaz; Eker, Hatice Kocak; Costa, Silvia R.; Sahin, Yavuz; Ocak, Zeynep; Isikay, Sedat; Ozalp, Ozge; Bozdogan, Sevcan; Aslan, Huseyin; Elcioglu, Nursel; Bertola, Debora R.; Gezdirici, Alper; Du, Haowei; Fatih, Jawid M.; Grochowski, Christopher M.; Akay, Gulsen; Jhangiani, Shalini N.; Karaca, Ender; Gu, Shen; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Bayram, Yavuz; Sutton, V. Reid; Carvalho, Claudia M. B.; Pehlivan, Davut; Gibbs, Richard A.; Lupski, James R. Share Save
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Marafi, Dana; Kozar, Nina; Duan, Ruizhi; Bradley, Stephen; Yokochi, Kenji; Al Mutairi, Fuad; Saadi, Nebal Waill; Whalen, Sandra; Brunet, Theresa; Kotzaeridou, Urania; Choukair, Daniela; Keren, Boris; Nava, Caroline; Kato, Mitsuhiro; Arai, Hiroshi; Froukh, Tawfiq; Faqeih, Eissa Ali; AlAsmari, Ali M.; Saleh, Mohammed M.; Vairo, Filippo Pinto E.; Pichurin, Pavel N.; Klee, Eric W.; Schmitz, Christopher T.; Grochowski, Christopher M.; Mitani, Tadahiro; Herman, Isabella; Calame, Daniel G.; Fatih, Jawid M.; Du, Haowei; Coban-Akdemir, Zeynep; Pehlivan, Davut; Jhangiani, Shalini N.; Gibbs, Richard A.; Miyatake, Satoko; Matsumoto, Naomichi; Wagstaff, Laura J.; Posey, Jennifer E.; Lupski, James R.; Meijer, Dies; Wagner, Matias Share Save
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R. Share Save
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F. Share Save
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract Muench, Johannes; Engesser, Marie; Schoenauer, Ria; Hamm, J. Austin; Hartig, Christin; Hantmann, Elena; Akay, Gulsen; Pehlivan, Davut; Mitani, Tadahiro; Akdemir, Zeynep Coban; Tuysuz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura R.; van Eerde, Albertien M.; Smol, Thomas; Devisme, Louise; Franquet, Helene; Attie-Bitach, Tania; Wagner, Timo; Bergmann, Carsten; Hoehn, Anne Kathrin; Shril, Shirlee; Pollack, Ari; Wenger, Tara; Scott, Abbey A.; Paolucci, Sarah; Buchan, Jillian; Gabriel, George C.; Posey, Jennifer E.; Lupski, James R.; Petit, Florence; McCarthy, Andrew A.; Pazour, Gregory J.; Lo, Cecilia W.; Popp, Bernt; Halbritter, Jan Share Save
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