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Consistency and Quality of Inflammatory Bowel Disease care in Australasia; Towards Benchmarking, Crohn's Colitis Cure Data Insight's Program Su, W. K.; Mcnamara, J.; Wilson, W.; Wark, G.; Lynch, K.; Su, H.; Forbes, A.; Lawrance, I; An, Y. K.; Dutt, S.; Brett, L.; Walker, G.; Andrews, J. M.; Connor, S. J.; Ghaly, S. 分享 收藏
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections Jeffries, Lauren; Mis, Emily K.; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N.; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S.; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B.; Banka, Siddharth; Chao, Katherine R.; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M.; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E.; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E.; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P.; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M.; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K.; Boennemann, Carsten G.; Lucas, Carrie L.; Lakhani, Saquib A. 分享 收藏
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin Lasio, Laura Duque; Leshinski, Angela C.; Ducich, Nicole H.; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B.; Hainline, Bryan E.; Basinger, Alice A.; Wilson, William G.; Diaz, George A.; Erbe, Richard W.; Koeberl, Dwight D.; Vockley, Jerry; Bedoyan, Jirair K. 分享 收藏
Highlighting the Dystonic Phenotype Related to GNAO1 突出显示与ginao1相关的肌张力障碍表型 Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jeremie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaetan; Calmels, Nadege; Nemeth, Andrea H.; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Meneret, Aurelie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando, Jr.; Nowak, Catherine; Wilson, William G.; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu 分享 收藏
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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome Bosch, Elisabeth; Hebebrand, Moritz; Popp, Bernt; Penger, Theresa; Behring, Bettina; Cox, Helen; Towner, Shelley; Kraus, Cornelia; Wilson, William G.; Khan, Shagufta; Krumbiegel, Mandy; Ekici, Arif B.; Uebe, Steffen; Trollmann, Regina; Woelfle, Joachim; Reis, Andre; Vasileiou, Georgia 分享 收藏
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H.; Jaarsveld, Richard H.; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W.; Andrews, P. Ian; El Achkar, Christelle M.; Berkovic, Sam; Rodan, Lance H.; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Mandelstam, Simone; Laux, Linda; Millichap, John J.; Guemez-Gamboa, Alicia; Nairn, Angus C.; Carvill, Gemma L. 分享 收藏
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna 分享 收藏
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction PPP2R1A-related神经发育障碍的广泛表型谱与生化功能障碍的程度相关 Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle 分享 收藏
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Defining the clinical phenotype of Saul-Wilson syndrome 定义saul-wilson综合征的临床表型 Ferreira, Carlos R.; Zein, Wadih M.; Huryn, Laryssa A.; Merker, Andrea; Berger, Seth I.; Wilson, William G.; Tiller, George E.; Wolfe, Lynne A.; Merideth, Melissa; Carvalho, Daniel R.; Duker, Angela L.; Bratke, Heiko; Haug, Marte Gjol; Rohena, Luis; Hove, Hanne B.; Xia, Zhi-Jie; Ng, Bobby G.; Freeze, Hudson H.; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L.; Tham, Emma; Nishimura, Gen; Phillips, John A.; Gahl, William A.; Hamid, Rizwan; Jackson, Andrew P.; Grigelioniene, Giedre; Bober, Michael B. 分享 收藏
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Mak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T. 分享 收藏
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome Knapp, Karen M.; Sullivan, Rosie; Murray, Jennie; Gimenez, Gregory; Arn, Pamela; D'Souza, Precilla; Gezdirici, Alper; Wilson, William G.; Jackson, Andrew P.; Ferreira, Carlos; Bicknell, Louise S. 分享 收藏
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Ferreira, Carlos R.; Xia, Zhi-Jie; Clement, Aurelie; Parry, David A.; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T.; Blanco-Sanchez, Bernardo; Ng, Bobby G.; Logan, Clare V.; Wolfe, Lynne A.; Solomon, Benjamin D.; Cho, Megan T.; Douglas, Ganka; Carvalho, Daniel R.; Bratke, Heiko; Haug, Marte Gjol; Phillips, Jennifer B.; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjo, Anna; Duker, Angela L.; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J.; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zoe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M.; Phillips, John A., III; Tiller, George E.; Wilson, William G.; Hamid, Rizwan; Malicdan, May C. V.; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew; Westerfield, Monte; Bober, Michael B.; Gahl, William A.; Freeze, Hudson H. 分享 收藏
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes Mudd病 (MAT I/III缺乏症): MAT1A纯合子和复合杂合子的数据调查 Chien, Yin-Hsiu; Abdenur, Jose E.; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G.; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H.; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Buergi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G.; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J. 分享 收藏
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A Campbell, Ian M.; Yatsenko, Svetlana A.; Hixson, Patricia; Reimschisel, Tyler; Thomas, Matthew; Wilson, William; Dayal, Usha; Wheless, James W.; Crunk, Amy; Curry, Cynthia; Parkinson, Nicole; Fishman, Leona; Riviello, James J.; Nowaczyk, Malgorzata J. M.; Zeesman, Susan; Rosenfeld, Jill A.; Bejjani, Bassem A.; Shaffer, Lisa G.; Cheung, Sau Wai; Lupski, James R.; Stankiewicz, Pawel; Scaglia, Fernando 分享 收藏
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