Not logged inFrontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva .png)
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SaveEvaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneityLin, Sheng-Jia; Vona, Barbara; Lau, Tracy; Huang, Kevin; Zaki, Maha S.; Aldeen, Huda Shujaa; Karimiani, Ehsan Ghayoor; Rocca, Clarissa; Noureldeen, Mahmoud M.; Saad, Ahmed K.; Petree, Cassidy; Bartolomaeus, Tobias; Abou Jamra, Rami; Zifarelli, Giovanni; Gotkhindikar, Aditi; Wentzensen, Ingrid M.; Liao, Mingjuan; Cork, Emalyn Elise; Varshney, Pratishtha; Hashemi, Narges; Mohammadi, Mohammad Hasan; Rad, Aboulfazl; Neira, Juanita; Toosi, Mehran Beiraghi; Knopp, Cordula; Kurth, Ingo; Challman, Thomas D.; Smith, Rebecca; Abdalla, Asmahan; Haaf, Thomas; Suri, Mohnish; Joshi, Manali; Chung, Wendy K.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza; Varshney, Gaurav K. Share Save Share Save Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderKury, Sebastien; Ebstein, Frederic; Molle, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M. S.; Giltay, Jacques C.; Cogne, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Denomme-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W.; Faurie, Eva; Schot, Rachel; Stevens, Cathy A.; Smits, Daphne J.; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A.; Stimach, Chandler L.; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H.; Hurst, Anna C. E.; Smith, Kirstin; Baugh, Evan H.; Bohm, Suzanne G.; Vyhnalkova, Emilie; Ryba, Lukas; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A.; Audebert-Bellanger, Severine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frederic; Berger, Seth, I; Smith, Ann C. M.; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krueger, Elke; Margueron, Raphael; Bezieau, Stephane; Poschmann, Jeremie; Isidor, Bertrand Share Save Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismChopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M.; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M. S.; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortuem, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E.; Wilke, Martina; Thompson, Michelle L.; Bebin, E. Martina; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A.; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Monda, Janettedi; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloeckner, Chiara; Kamphausen, Susanne B.; Abou Jamra, Rami; Arelin, Maria; Innes, A. Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; Burca, Annade; Kini, Usha; Delatycki, Martin B.; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Veronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J.; Robertson, Stephen P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T. Share Save Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesYuan, Bo; Neira, Juanita; Pehlivan, Davut; Santiago-Sim, Teresa; Song, Xiaofei; Rosenfeld, Jill; Posey, Jennifer E.; Patel, Vipulkumar; Jin, Weihong; Adam, Margaret P.; Baple, Emma L.; Dean, John; Fong, Chin-To; Hickey, Scott E.; Hudgins, Louanne; Leon, Eyby; Madan-Khetarpal, Suneeta; Rawlins, Lettie; Rustad, Cecilie F.; Stray-Pedersen, Asbjorg; Tveten, Kristian; Wenger, Olivia; Diaz, Jullianne; Jenkins, Laura; Martin, Laura; McGuire, Marianne; Pietryga, Marguerite; Ramsdell, Linda; Slattery, Leah; Abid, Farida; Bertuch, Alison A.; Grange, Dorothy; Immken, LaDonna; Schaaf, Christian P.; Van Esch, Hilde; Bi, Weimin; Cheung, Sau Wai; Breman, Amy M.; Smith, Janice L.; Shaw, Chad; Crosby, Andrew H.; Eng, Christine; Yang, Yaping; Lupski, James R.; Xiao, Rui; Liu, Pengfei Share Save Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathyYuan, Bo; Neira, Juanita; Gu, Shen; Harel, Tamar; Liu, Pengfei; Briceno, Ignacio; Elsea, Sarah H.; Gomez, Alberto; Potocki, Lorraine; Lupski, James R. Share Save 
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