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Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies Aref-Eshghi, Erfan; Anderson, Katherine J.; Boulay, Lauren; Brown, Kathleen; Duis, Jessica; Giummo, Christine A.; Ogawa, Jessica; Carere, Deanna Alexis; Normand, Elizabeth A.; Qian, Yaping; Mcwalter, Kirsty; Torti, Erin Share Save
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M. Share Save
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Imprinting disorders Eggermann, Thomas; Monk, David; de Nanclares, Guiomar Perez; Kagami, Masayo; Giabicani, Eloise; Riccio, Andrea; Tumer, Zeynep; Kalish, Jennifer M.; Tauber, Maithe; Duis, Jessica; Weksberg, Rosanna; Maher, Eamonn R.; Begemann, Matthias; Elbracht, Miriam Share Save
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Diagnosis and management of sleep disorders in Prader-Willi syndrome Duis, Jessica; Pullen, Lara C.; Picone, Maria; Friedman, Norman; Hawkins, Stephen; Sannar, Elise; Pfalzer, Anna C.; Shelton, Althea Robinson; Singh, Deepan; Zee, Phyllis C.; Glaze, Daniel G.; Revana, Amee Share Save
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Mosaic 2q37 deletion detected in a neonate with IUGR and brain malformations James, Kiely; Hazard, Deborah; Graw, Sharon; Smith, Amy; Brzeskiewicz, Peter; Jacques, Heather; Rowe, Rachel; Duis, Jessica; Bao, Liming; Haag, Mary Share Save
Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous Ketones Carson, Robert P.; Herber, Donna L.; Pan, Zhaoxing; Phibbs, Fenna; Key, Alexandra P.; Gouelle, Arnaud; Ergish, Patience; Armour, Eric A.; Patel, Shital; Duis, Jessica Share Save
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Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium Schwartz, Lauren; Caixas, Assumpta; Dimitropoulos, Anastasia; Dykens, Elisabeth; Duis, Jessica; Einfeld, Stewart; Gallagher, Louise; Holland, Anthony; Rice, Lauren; Roof, Elizabeth; Salehi, Parisa; Strong, Theresa; Taylor, Bonnie; Woodcock, Kate Share Save
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KIF5A Mutations Cause an Infantile Onset Phenotype Including Severe Myoclonus with Evidence of Mitochondrial Dysfunction Duis, Jessica; Dean, Shannon; Applegate, Carolyn; Harper, Amy; Xiao, Rui; He, Weimin; Dollar, James D.; Sun, Lisa R.; Waberski, Marta Biderman; Crawford, Thomas O.; Hamosh, Ada; Stafstrom, Carl E. Share Save
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations Lalani, Seema R.; Liu, Pengfei; Rosenfeld, Jill A.; Watkin, Levi B.; Chiang, Theodore; Leduc, Magalie S.; Zhu, Wenmiao; Ding, Yan; Pan, Shujuan; Vetrini, Francesco; Miyake, Christina Y.; Shinawi, Marwan; Gambin, Tomasz; Eldomery, Mohammad K.; Akdemir, Zeynep Hande Coban; Emrick, Lisa; Wilnai, Yael; Schelley, Susan; Koenig, Mary Kay; Memon, Nada; Farach, Laura S.; Coe, Bradley P.; Azamian, Mahshid; Hernandez, Patricia; Zapata, Gladys; Jhangiani, Shalini N.; Muzny, Donna M.; Lotze, Timothy; Clark, Gary; Wilfong, Angus; Northrup, Hope; Adesina, Adekunle; Bacino, Carlos A.; Scaglia, Fernando; Bonnen, Penelope E.; Crosson, Jane; Duis, Jessica; Maegawa, Gustavo H. B.; Coman, David; Inwood, Anita; McGill, Jim; Boerwinkle, Eric; Graham, Brett; Beaudet, Art; Eng, Christine M.; Hanchard, Neil A.; Xia, Fan; Orange, Jordan S.; Gibbs, Richard A.; Lupski, James R.; Yang, Yaping Share Save
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