Not logged inSialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature
Gburek-augustat, Janina; Lee, I-Chun; Rubino, Marica; Topcu, Vehap; Chavez-castillo, Melissa; Tu, Shao Ching; Shinawi, Marwan; Alfradique-Dunham, Isabel; Valtcheva, Manouela; Adarmes-Gomez, Astrid; Macias-garcia, Daniel; Laura Munoz-Delgado, Laura; Jesus, Silvia; Mir, Pablo; Merkenschlager, Andreas; Coppola, Antonietta .png)
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SaveShare Save Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseMalhotra, Alka; Thorpe, Erin; Coffey, Alison J.; Rajkumar, Revathi; Adjeman, Josephine; Adjetey, Naomi Dianne Naa Adjeley; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C.; Kawome, Martina; Lumaka, Aime; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; Mccarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M.; Salguero, Hildegard Pena; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J.; Perry, Denise L.; Kesari, Akanchha Share Save The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDQebibo, Leila; Davakan, Amael; Nesson-Dauphin, Mathilde; Boulali, Najlae; Siquier-Pernet, Karine; Afenjar, Alexandra; Amiel, Jeanne; Bartholdi, Deborah; Barth, Magalie; Blondiaux, Eleonore; Cristian, Ingrid; Frazier, Zoe; Goldenberg, Alice; Good, Jean-Marc; Salussolia, Catherine Lourdes; Sahin, Mustafa; McCullagh, Helen; McDonald, Kimberly; McRae, Anne; Morrison, Jennifer; Pinner, Jason; Shinawi, Marwan; Toutain, Annick; Vyhnalkova, Emilie; Wheeler, Patricia G.; Wilnai, Yael; Hausman-Kedem, Moran; Coolen, Marion; Cantagrel, Vincent; Burglen, Lydie; Lory, Philippe Share Save Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Shinawi, Marwan; Wegner, Daniel J.; Paul, Alexander J.; Buchser, William; Schmidt, Robert; Sharma, Jaiprakash; Sardiello, Marco; Sisco, Kathleen; Manwaring, Linda; Reynolds, Margaret; Fulton, Robert; Fronick, Catrina; Shaver, Andrew; Huang, Tina Y.; Carroll, Ashley; Roessler, Kyria; Halpern, Aaron L.; Dickson, Patricia I.; Wambach, Jennifer A. Share Save Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderBlackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun Share Save The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseThorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; del Campo, Miguel; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Pena; Lumaka, Aime; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D.; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S.; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E.; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S.; Perry, Denise L.; Belmont, John; Taft, Ryan J. Share Save MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaksMathias, Brendan; O'Leary, David; Saucier, Nermina; Ahmad, Faiz; White, Lynn S.; Russell, Le'Mark; Shinawi, Marwan; Smith, Matthew J.; Abraham, Roshini S.; Cooper, Megan A.; Kitcharoensakkul, Maleewan; Green, Abby M.; Bednarski, Jeffrey J. Share Save Share Save Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltShepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan Share Save Rare 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 An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPMah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Oystein L.; Smeland, Marie F.; Planes, Marc; Uguen, Kevin; Redon, Sylvia; Bierhals, Tatjana; Scholz, Tasja; Denecke, Jonas; Mensah, Martin A.; Sczakiel, Henrike L.; Tichy, Heidelis; Verheyen, Sarah; Blatterer, Jasmin; Schreiner, Elisabeth; Thies, Jenny; Lam, Christina; Spaeth, Christine G.; Pena, Loren; Ramsey, Keri; Narayanan, Vinodh; Seaver, Laurie H.; Rodriguez, Diana; Afenjar, Alexandra; Burglen, Lydie; Lee, Edward B.; Chou, Tsui-Fen; Weihl, Conrad C.; Shinawi, Marwan S. Share Save SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisStefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis Share Save Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entitiesWongkittichote, Parith; Lasio, Maria Laura Duque; Magistrati, Martina; Pathak, Sheel; Sample, Brooke; Carvalho, Daniel Rocha; Ortega, Adriana Banzzatto; Araujo Castro, Matheus Augusto; de Gusmao, Claudio M.; Toler, Tomi L.; Bellacchio, Emanuele; Dallabona, Cristina; Shinawi, Marwan Share Save Share Save Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityCalame, Daniel G.; Vadillo, Cristina Moreno; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A.; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel, I; Torres, Rosa J.; Prior, Carmen; Gomez-Gonzalez, Clara; Biskup, Saskia; Lupski, James R.; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T. Share Save Share Save A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological StudyWilke, Matheus Vernet Machado Bressan; de Oliveira, Bibiana Mello; Starosta, Rodrigo Tzovenos; Shinawi, Marwan; Lu, Liang; He, Mai; Ma, Yamin; Stoll, Janis; de Souza, Carolina Fischinger Moura; de Siqueira, Ana Cecilia Menezes; Vieira, Sandra Maria Goncalves; Cerski, Carlos Thadeu; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein Share Save Share Save 
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