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Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia Agianda, Habibah A. P.; Kim, Hyo-Min; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Gonzalez Saez-Diez, Enrique; Boerkoel, Cornelius F.; Saffari, Afshin; Quiroz, Vicente; Schierbaum, Luca; Zaman, Zainab; Bernardi, Katerina; Ebrahimi-Fakhari, Darius Share Save
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Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data Bedon, Ana Acosta; Akbari, Vahid; Rothstein, Ralph; Inman, Alexandra; Bhalla, Sanjiv; An, Jianghong; Friedman, Jan M.; Weksberg, Rosanna; Boerkoel, Cornelius; Jones, Steven J. M.; Gibson, William T. Share Save
Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis DuBois, Makenna; Dixon, Katherine; Sherlaw-Sturrock, Charlotte; Shen, Yaoqing; Probst, Frank; Clarke, Lorne; Lyalin, Dmitry; Shuman, Cheryl; Jones, Steven; Boerkoel, Cornelius; Stewart, Grant S.; Richmond, Phillip; Myers, Angela Share Save
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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes Akbari, Vahid; Dada, Sarah; Shen, Yaoqing; Dixon, Katherine; Hejla, Duha; Galbraith, Andrew; Choufani, Sanaa; Weksberg, Rosanna; Boerkoel, Cornelius F.; Stewart, Laura; Gibson, William T.; Jones, Steven J. M. Share Save
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G.; Khan, Tahir N.; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S.; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N.; Hammer, Michael F.; Gottlob, Irene; Norton, William H. J.; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F.; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L.; Davis, Erica E.; Chudley, Albert E.; Schwartz, Charles E.; Kim, Cheol-Hee Share Save
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor Xu, Yuchen; Song, Rui; Perszyk, Riley E.; Chen, Wenjuan; Kim, Sukhan; Park, Kristen L.; Allen, James P.; Nocilla, Kelsey A.; Zhang, Jing; Xiangwei, Wenshu; Tankovic, Anel; McDaniels, Ellington D.; Sheikh, Rehan; Mizu, Ruth K.; Karamchandani, Manish M.; Hu, Chun; Kusumoto, Hirofumi; Pecha, Joseph; Cappuccio, Gerarda; Gaitanis, John; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Jauss, Robin-Tobias; Lee, Hyun Kyung; Bozarth, Xiuhua; Lynch, David R.; Helbig, Ingo; Pierson, Tyler Mark; Boerkoel, Cornelius F.; Myers, Scott J.; Lemke, Johannes R.; Benke, Timothy A.; Yuan, Hongjie; Traynelis, Stephen F. Share Save
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Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines Cornthwaite, Melissa; Turner, Kelly; Armstrong, Linlea; Boerkoel, Cornelius F.; Chang, Caitlin; Lehman, Anna; Nikkel, Sarah M.; Patel, Millan S.; van Allen, Margot; Langlois, Sylvie Share Save
The practice of genomic medicine: A delineation of the process and its governing principles Handra, Julia; Elbert, Adrienne; Gazzaz, Nour; Moller-Hansen, Ashley; Hyunh, Stephanie; Lee, Hyun Kyung; Boerkoel, Pierre; Alderman, Emily; Anderson, Erin; Clarke, Lorne; Hamilton, Sara; Hamman, Ronnalea; Hughes, Shevaun; Ip, Simon; Langlois, Sylvie; Lee, Mary; Li, Laura; Mackenzie, Frannie; Patel, Millan S. S.; Prentice, Leah M. M.; Sangha, Karan; Sato, Laura; Seath, Kimberly; Seppelt, Margaret; Swenerton, Anne; Warnock, Lynn; Zambonin, Jessica L.; Boerkoel, Cornelius F.; Chin, Hui-Lin; Armstrong, Linlea Share Save
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M. Share Save
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice Chin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Handra, Iulia; Warnock, Lynn; Moller-Hansen, Ashley; Boerkoel, Pierre; Jacobsen, Julius O. B.; du Souich, Christele; Zhang, Nan; Shefchek, Kent; Prentice, Leah M.; Washington, Nicole; Haendel, Melissa; Armstrong, Linlea; Clarke, Lorne; Li, Wenhui Laura; Smedley, Damian; Robinson, Peter N.; Boerkoel, Cornelius F. Share Save
Long-read genome sequencing informs the molecular etiology of imprinting disorders Dixon, Katherine; Shen, Yaoqing; Chin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Chan, Simon; Zhang, Cathy; Culibrk, Luka; O'Neill, Kieran; Mungall, Karen; Mungall, Andrew; Moore, Richard; Gibson, William; Chanoine, Jean-Pierre; Boerkoel, Cornelius; Jones, Steven Share Save
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders Duncan, Anna R.; Polovitskaya, Maya M.; Gaitan-Penas, Hector; Bertelli, Sara; VanNoy, Grace E.; Grant, Patricia E.; O'Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M.; Agolini, Emanuele; Madden, Jill A.; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Abou Jamra, Rami; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F.; Seath, Kimberly; Clarke, Lorne; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H.; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estevez, Raul; Jentsch, Thomas J.; Pusch, Michael; Agrawal, Pankaj B. Share Save
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders Fischer-Zirnsak, Bjoern; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M.; Fleming, Emily; Foss, Kimberly; Thoa Ha; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J.; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T.; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F.; Mirzaa, Ghayda; Ehmke, Nadja Share Save
A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation Duan, X.; Yang, S.; Zhang, H.; Wu, J.; Zhang, Y.; Ji, D.; Tie, L.; Boerkoel, C. F. Share Save
Glycomics in rare diseases: from diagnosis to mechanism Davids, Mariska; Kane, Megan S.; Wolfe, Lynne A.; Toro, Camilo; Tifft, Cynthia J.; Adams, David; Li, Xueli; Raihan, Mohd A.; He, Miao; Gahl, William A.; Boerkoel, Cornelius F.; Malicdan, May Christine V. 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
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