Not logged inBiallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
Yap, Patrick; Riley, Lisa G.; Kakadia, Purvi M.; Bohlander, Stefan K.; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T.; Stabej, Polona Le Quesne .png)
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SaveRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesNil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save Molecular diagnosis of 405 individuals with autism spectrum disorderMiyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi Share Save Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, Sandra; Shaw, Marie; Mignot, Cyril; Heron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoelle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renee; Hartley, Jessica N.; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent Share Save Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderBrunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias Share Save Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesisByrne, Alicia B.; Mizumoto, Shuji; Arts, Peer; Yap, Patrick; Feng, Jinghua; Schreiber, Andreas W.; Babic, Milena; King-Smith, Sarah L.; Barnett, Christopher P.; Moore, Lynette; Sugahara, Kazuyuki; Mutlu-Albayrak, Hatice; Nishimura, Gen; Liebelt, Jan E.; Yamada, Shuhei; Savarirayan, Ravi; Scott, Hamish S. Share Save Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with Corner Fractures''Lee, Chae Syng; Fu, He; Baratang, Nissan; Rousseau, Justine; Kumra, Heena; Sutton, V. Reid; Niceta, Marcello; Ciolfi, Andrea; Yamamoto, Guilherme; Bertola, Debora; Marcelis, Carlo L.; Lugtenberg, Dorien; Bartuli, Andrea; Kim, Choel; Hoover-Fong, Julie; Sobreira, Nara; Pauli, Richard; Bacino, Carlos; Krakow, Deborah; Parboosingh, Jillian; Yap, Patrick; Kariminejad, Ariana; McDonald, Marie T.; Aracena, Mariana I.; Lausch, Ekkehart; Unger, Sheila; Superti-Furga, Andrea; Lu, James T.; Cohn, Dan H.; Tartaglia, Marco; Lee, Brendan H.; Reinhardt, Dieter P.; Campeau, Philippe M. Share Save Investigating a naturally occurring small molecule, EBC-46, as an immunotherapeutic agent to help treat cancerCullen, J.; Boyle, G.; D'Souza, M.; Pierce, C.; Adams, R.; Cantor, A.; Johns, J.; Maslovskaya, L.; Yap, P. Y.; Gordon, V.; Reddell, P.; Parsons, R. Share Save 
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