Not logged in Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases Alstrup, Morten; Cesca, Fabrizia; Krawczun-Rygmaczewska, Alicja; Lopez-Menendez, Celia; Pose-Utrilla, Julia; Castberg, Filip Christian; Bjerager, Mia Ortved; Finnila, Candice; Kruer, Michael C.; Bakhtiari, Somayeh; Padilla-Lopez, Sergio; Manwaring, Linda; Keren, Boris; Afenjar, Alexandra; Galatolo, Daniele; Scalise, Roberta; Santorelli, Fillippo M.; Shillington, Amelle; Vezain, Myriam; Martinovic, Jelena; Stevens, Cathy; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Thiffault, Isabelle; Pastinen, Tomi; Baranano, Kristin; Lee, Angela; Granadillo, Jorge; Glassford, Megan R.; Keegan, Catherine E.; Matthews, Nicole; Saugier-Veber, Pascale; Iglesias, Teresa; Ostergaard, Elsebet Share Save
Fetal Cortical Abnormalities Identified on Ultrasound Rosner, Mara; Reed, Casey; Tekes, Aylin; Goodman, Lindsey N.; Jelin, Angie C.; Miller, Jena L.; Kush, Michelle L.; Baschat, Ahmet A.; Sun, Lisa R.; DeMay, Jessica M.; Baranano, Kristin 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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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna Share Save
The association between educational attainment and SCA 3 age of onset and disease course Iannuzzelli, Katherine; Shi, Rosa; Carter, Reece; Huynh, Rachel; Morgan, Owen; Kuo, Sheng-Han; Bang, Jee; Mills, Kelly A.; Baranano, Kristin; Zee, David S.; Moukheiber, Emile; Roda, Ricardo; Butala, Ankur; Marvel, Cherie; Joyce, Michelle; Li, Ximin; Wang, Jiangxia; Rosenthal, Liana S. Share Save
PIGG variant pathogenicity assessment reveals characteristic features within 19 families Tremblay-Laganiere, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M. S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rusch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko Share Save
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Baranano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Roisin; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A.; Gabriel, Melissa K.; Rossi, Mari; Fitzpatrick, David R.; Wilkie, Andrew O. M.; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A. Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G.; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J.; Juusola, Jane; Monaghan, Kristin G.; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske Share Save
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation Beck, David B.; Basar, Mohammed A.; Asmar, Anthony J.; Thompson, Joyce J.; Oda, Hirotsugu; Uehara, Daniela T.; Saida, Ken; Pajusalu, Sander; Talvik, Inga; D'Souza, Precilla; Bodurtha, Joann; Mu, Weiyi; Baranano, Kristin W.; Miyake, Noriko; Wang, Raymond; Kempers, Marlies; Tamada, Tomoko; Nishimura, Yutaka; Okada, Satoshi; Kosho, Tomoki; Dale, Ryan; Mitra, Apratim; Macnamara, Ellen; Matsumoto, Naomichi; Inazawa, Johji; Walkiewicz, Magdalena; Ounap, Katrin; Tifft, Cynthia J.; Aksentijevich, Ivona; Kastner, Daniel L.; Rocha, Pedro P.; Werner, Achim Share Save
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Sacoto, Maria J. Guillen; Tchasovnikarova, Iva A.; Torti, Erin; Forster, Cara; Andrew, E. Hallie; Anselm, Irina; Baranano, Kristin W.; Briere, Lauren C.; Cohen, Julie S.; Craigen, William J.; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J.; Fatemi, Ali; Fraser, Jamie L.; Gallagher, Renata C.; Guerin, Andrea; Haynes, Devon; High, Frances A.; Inglese, Cara N.; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S.; Morel, Chantal F.; Mu, Weiyi; Muller, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane Share Save
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry Share Save
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity Asselin, Laure; Alvarez, Jose Rivera; Heide, Solveig; Bonnet, Camille S.; Tilly, Peggy; Vitet, Helene; Weber, Chantal; Bacino, Carlos A.; Baranano, Kristin; Chassevent, Anna; Dameron, Amy; Faivre, Laurence; Hanchard, Neil A.; Mahida, Sonal; McWalter, Kirsty; Mignot, Cyril; Nava, Caroline; Rastetter, Agnes; Streff, Haley; Thauvin-Robinet, Christel; Weiss, Marjan M.; Zapata, Gladys; Zwijnenburg, Petra J. G.; Saudou, Frederic; Depienne, Christel; Golzio, Christelle; Heron, Delphine; Godin, Juliette D. Share Save
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5 Kodani, Andrew; Kenny, Connor; Lai, Abbe; Gonzalez, Dilenny M.; Stronge, Edward; Sejourne, Gabrielle M.; Isacco, Laura; Partlow, Jennifer N.; O'Donnell, Anne; McWalter, Kirsty; Byrne, Alicia B.; Barkovich, A. James; Yang, Edward; Hill, R. Sean; Gawlinski, Pawel; Wiszniewski, Wojciech; Cohen, Julie S.; Fatemi, S. Ali; Baranano, Kristin W.; Sahin, Mustafa; Vossler, David G.; Yuskaitis, Christopher J.; Walsh, Christopher A. Share Save
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Mobilio, Sabrina; Niceta, Marcello; Zampino, Giuseppe; Philippe, Christophe; Moutton, Sebastien; Zaki, Maha S.; James, Kiely N.; Musaev, Damir; Mu, Weiyi; Baranano, Kristin; Nance, Jessica R.; Rosenfeld, Jill A.; Braverman, Nancy; Ciolfi, Andrea; Millan, Francisca; Person, Richard E.; Bruel, Ange-Line; Thauvin-Robinet, Christel; Ververi, Athina; DeVile, Catherine; Male, Alison; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Baratang, Nissan, V; Rousseau, Justine; St-Denis, Anik; Elrick, Matthew J.; Anselm, Irina; Rodan, Lance H.; Tartaglia, Marco; Gleeson, Joseph; Kinoshita, Taroh; Campeau, Philippe M. Share Save
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A genome-wide DNA methylation signature for SETD1B-related syndrome Krzyzewska, I. M.; Maas, S. M.; Henneman, P.; Lip, K. v d; Venema, A.; Baranano, K.; Chassevent, A.; Aref-Eshghi, E.; van Essen, A. J.; Fukuda, T.; Ikeda, H.; Jacquemont, M.; Kim, H-G; Labalme, A.; Lewis, S. M. E.; Lesca, G.; Madrigal, I; Mahida, S.; Matsumoto, N.; Rabionet, R.; Rajcan-Separovic, E.; Qiao, Y.; Sadikovic, B.; Saitsu, H.; Sweetser, D. A.; Alders, M.; Mannens, M. M. A. M. Share Save
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (vol 48, pg 1185, 2016) Jenkinson, Emma M.; Rodero, Mathieu P.; Kasher, Paul R.; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C.; Rose, Yoann; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.; Bhaskar, Sanjeev S.; O'Sullivan, James; Baerlocher, Gabriela M.; Haubitz, Monika; Aubert, Geraldine; Baranano, Kristin W.; Barnicoat, Angela J.; Battini, Roberta; Berger, Andrea; Blair, Edward M.; Brunstrom-Hernandez, Janice E.; Buckard, Johannes A.; Cassiman, David M.; Caumes, Rosaline; Cordelli, Duccio M.; De Waele, Liesbeth M.; Fay, Alexander J.; Ferreira, Patrick; Fletcher, Nicholas A.; Fryer, Alan E.; Goel, Himanshu; Hemingway, Cheryl A.; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G.; Lourenco, Charles M.; Malpas, Timothy J.; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Ounap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H.; Sinnathuray, Kanaga R.; Soh, Calvin; Stewart, Helen S.; Stone, John; Van Esch, Hilde; Van Mol, Christine E. G.; Vanderver, Adeline; Wakeling, Emma L.; Whitney, Andrea; Pavitt, Graham D.; Griffiths-Jones, Sam; Rice, Gillian I.; Revy, Patrick; van der Knaap, Marjo S.; Livingston, John H.; O'Keefe, Raymond T.; Crow, Yanick J. Share Save
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