Not logged in De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder Bradbrook, Samuel M.; Graham, Gail; Carter, Melissa T.; Kibaek, Maria; Fagerberg, Christina; Larsen, Martin J.; Dawson, Katherine; Meuter, Cheryl; Pepler, Alexander; Besnard, Thomas; Vincent, Marie; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Bjorgo, Kathrine; Amundsen, Silja Svanstrom; Courtin, Thomas; Emrick, Lisa; Rosenfeld, Jill A.; Weisz-Hubshman, Monika; Mak, Bryan C.; Martinez-Agosto, Julian; Heulin, Mathilde; Morin, Gilles; Keren, Boris; Schutz, Sacha; Monin, Pauline; Pujalte, Mathilde; Januel, Louis; Lesca, Gaetan; Valence, Marie Noelle Bonnet Dupeyron; Margot, Henri; Levy, Jonathan; Iovino, Emmanuela; Isidori, Federica; Pippucci, Tommaso; Montanari, Francesca; Bell, Lauren; Burton, Jennifer; Torti, Erin; Wentzensen, Ingrid M.; Marcadier, Julien Share Save
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin Share Save
A partner protection package for HIV cure-related trials involving analytical treatment interruptions Dube, Karine; Morton, Tia; Fox, Lawrence; Dee, Lynda; Palm, David; Villa, Thomas J.; Freshwater, William; Taylor, Jeff; Graham, Gail; Carter, William B.; Sauceda, John A.; Peluso, Michael J.; Rid, Annette Share Save
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J.; Davies, Sally J.; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E.; Greenhalgh, Lynn; Holder, Susan E.; Johnson, Diana; Kumar, Ajith; Ladda, Roger L.; Sell, Susan; Begtrup, Amber; Lynch, Sally A.; Mccann, Emma; Ostern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew 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
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Use of eConsult to enhance genetics service delivery in primary care: A multimethod study Carroll, June C.; Liddy, Clare; Afkham, Amir; Keely, Erin; Goh, Elaine S.; Graham, Gail E.; Permaul, Joanne A.; Allanson, Judith; Heisey, Ruth; Makuwaza, Tutsirai; Manca, Donna P.; O'Brien, Mary Ann; Grunfeld, Eva Share Save
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna Share Save
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly Schnur, Rhonda E.; Yousaf, Sairah; Liu, James; Chung, Wendy K.; Rhodes, Lindsay; Marble, Michael; Zambrano, Regina M.; Sobreira, Nara; Jayakar, Parul; Pierpont, Mary Ella; Schultz, Matthew J.; Pichurin, Pavel N.; Olson, Rory J.; Graham, Gail E.; Osmond, Matthew; Contreras-Garcia, Gustavo A.; Campo-Neira, Karina A.; Penaloza-Mantilla, Camilo A.; Flage, Mark; Kuppa, Srikar; Navarro, Karina; Sacoto, Maria J. Guillen; Wentzensen, Ingrid M.; Scarano, Maria, I; Juusola, Jane; Prada, Carlos E.; Hufnagel, Robert B. Share Save
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition Unolt, Marta; Kammoun, Molka; Nowakowska, Beata; Graham, Gail E.; Crowley, T. Blaine; Hestand, Matthew S.; Demaerel, Wolfram; Geremek, Maciej; Emanuel, Beverly S.; Zackai, Elaine H.; Vermeesch, Joris R.; McDonald-McGinn, Donna Share Save
Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database Kushnir, I; Kirk, L.; Mallick, R.; Kim, R. H.; Graham, G. E.; Breau, R. H.; Lattouf, J-B; Violette, P. D.; Pautler, S. E.; Care, M.; Kapoor, A.; Jewett, M. A. S.; Wood, L.; Tanguay, S.; Heng, D. Y. C.; Basappa, N. S.; So, A.; Pouliot, F.; Reaume, N. M. Share Save
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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C.; Kini, Usha; Stewart, Helen; Parboosingh, Jillian S.; Kline, Antonie D.; Innes, A. Micheil Share Save
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Lowther, Chelsea; Speevak, Marsha; Armour, Christine M.; Goh, Elaine S.; Graham, Gail E.; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J. M.; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H.; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A.; Prasad, Chitra; Dick, Paul T.; Hussain, Asmaa S.; Walinga, Margreet; Reijenga, Renske G.; Gazzellone, Matthew; Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.; Stavropoulos, Dimitri J.; McCready, Elizabeth; Bassett, Anne S. Share Save
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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit Daoud, Hussein; Luco, Stephanie M.; Li, Rui; Bareke, Eric; Beaulieu, Chandree; Jarinova, Olga; Carson, Nancy; Nikkel, Sarah M.; Graham, Gail E.; Richer, Julie; Armour, Christine; Bulman, Dennis E.; Chakraborty, Pranesh; Geraghty, Michael; Lines, Matthew A.; Lacaze-Masmonteil, Thierry; Majewski, Jacek; Boycott, Kym M.; Dyment, David A. Share Save
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism Murray, Jennie E.; van der Burg, Mirjam; IJspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S.; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A.; Graham, Gail E.; Ranza, Emmanuelle; Blundell, Tom L.; Jackson, Andrew P.; Stewart, Grant S.; Bicknell, Louise S. Share Save
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia Smith, Amanda C.; Mears, Alan J.; Bunker, Ryan; Ahmed, Afsana; MacKenzie, Malcolm; Schwartzentruber, Jeremy A.; Beaulieu, Chandree L.; Ferretti, Emanuela; Majewski, Jacek; Bulman, Dennis E.; Celik, Fatma Cakmak; Boycott, Kym M.; Graham, Gail E. Share Save
Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience Gotherstrom, Cecilia; Westgren, Magnus; Shaw, S. W. Steven; Astrom, Eva; Biswas, Arijit; Byers, Peter H.; Mattar, Citra N. Z.; Graham, Gail E.; Taslimi, Jahan; Ewald, Uwe; Fisk, Nicholas M.; Yeoh, Allen E. J.; Lin, Ju-Li; Cheng, Po-Jen; Choolani, Mahesh; Le Blanc, Katarina; Chan, Jerry K. Y. Share Save
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