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Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism
Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism
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Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism

Potabattula, Ramya ; Prell, Andreas ; Dittrich, Marcus ; Nava, Caroline ; Depienne, Christel ; Bejaoui, Yosra ; El Hajj, Nady ; Hahn, Thomas ; Schorsch, Martin ; Haaf, Thomas

Aging (Albany, NY.), 2023-11, Vol.15 (22), p.12763-12779

United States: Impact Journals

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2
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Bonardi, Claudia M ; Heyne, Henrike O ; Fiannacca, Martina ; Fitzgerald, Mark P ; Gardella, Elena ; Gunning, Boudewijn ; Olofsson, Kern ; Lesca, Gaétan ; Verbeek, Nienke ; Stamberger, Hannah ; Striano, Pasquale ; Zara, Federico ; Mancardi, Maria M ; Nava, Caroline ; Syrbe, Steffen ; Buono, Salvatore ; Baulac, Stephanie ; Coppola, Antonietta ; Weckhuysen, Sarah ; Schoonjans, An-Sofie ; Ceulemans, Berten ; Sarret, Catherine ; Baumgartner, Tobias ; Muhle, Hiltrud ; Portes, Vincent des ; Toulouse, Joseph ; Nougues, Marie-Christine ; Rossi, Massimiliano ; Demarquay, Geneviève ; Ville, Dorothée ; Hirsch, Edouard ; Maurey, Hélène ; Willems, Marjolaine ; de Bellescize, Julitta ; Altuzarra, Cecilia Desmettre ; Villeneuve, Nathalie ; Bartolomei, Fabrice ; Picard, Fabienne ; Hornemann, Frauke ; Koolen, David A ; Kroes, Hester Y ; Reale, Chiara ; Fenger, Christina D ; Tan, Wen-Hann ; Dibbens, Leanne ; Bearden, David R ; Møller, Rikke S ; Rubboli, Guido

Brain (London, England : 1878), 2021-12, Vol.144 (12), p.3635-3650 [Periódico revisado por pares]

England: Oxford University Press

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3
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Ernst, Michelle E. ; Baugh, Evan H. ; Thomas, Amanda ; Bier, Louise ; Lippa, Natalie ; Stong, Nicholas ; Mulhern, Maureen S. ; Kushary, Sulagna ; Akman, Cigdem I. ; Heinzen, Erin L. ; Yeh, Raymond ; Bi, Weimin ; Hanchard, Neil A. ; Burrage, Lindsay C. ; Leduc, Magalie S. ; Chong, Josephine S. C. ; Bend, Renee ; Lyons, Michael J. ; Lee, Jennifer A. ; Suwannarat, Pim ; Brilstra, Eva ; Simon, Marleen ; Koopmans, Marije ; Binsbergen, Ellen ; Groepper, Daniel ; Fleischer, Julie ; Nava, Caroline ; Keren, Boris ; Mignot, Cyril ; Mathieu, Sophie ; Mancini, Grazia M. S. ; Madan‐Khetarpal, Suneeta ; Infante, Elena M. ; Bluvstein, Judith ; Seeley, Andrea ; Bachman, Kristine ; Klee, Eric W. ; Schultz‐Rogers, Laura E. ; Hasadsri, Linda ; Barnett, Sarah ; Ellingson, Marissa S. ; Ferber, Matthew J. ; Narayanan, Vinodh ; Ramsey, Keri ; Rauch, Anita ; Joset, Pascal ; Steindl, Katharina ; Sheehan, Theodore ; Poduri, Annapurna ; Vasquez, Alejandra ; Ruivenkamp, Claudia ; White, Susan M. ; Pais, Lynn ; Monaghan, Kristin G. ; Goldstein, David B. ; Sands, Tristan T. ; Aggarwal, Vimla

Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.e103-e109 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc

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4
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia ; Popp, Bernt ; Babcock, Holly E. ; Bakker, Dewi P. ; Barwick, Katy ; Bonfert, Michaela V. ; Bönnemann, Carsten G. ; Brilstra, Eva H. ; Chung, Wendy K. ; Clarke, Angus J. ; Devine, Patrick ; Donkervoort, Sandra ; Fraser, Jamie L. ; Friedman, Jennifer ; Gates, Alyssa ; Ghoumid, Jamal ; Hobson, Emma ; Horvath, Gabriella ; Keller-Ramey, Jennifer ; Keren, Boris ; Kurian, Manju A. ; Lee, Virgina ; Leppig, Kathleen A. ; Lundgren, Johan ; McDonald, Marie T. ; McLaughlin, Heather M. ; McTague, Amy ; Mefford, Heather C. ; Mignot, Cyril ; Mikati, Mohamad A. ; Nava, Caroline ; Raymond, F. Lucy ; Sampson, Julian R. ; Sanchis-Juan, Alba ; Shashi, Vandana ; Shieh, Joseph T.C. ; Shinawi, Marwan ; Slavotinek, Anne ; Stödberg, Tommy ; Stong, Nicholas ; Sullivan, Jennifer A. ; Taylor, Ashley C. ; Toler, Tomi L. ; van den Boogaard, Marie-José ; van der Crabben, Saskia N. ; van Gassen, Koen L.I. ; van Jaarsveld, Richard H. ; Van Ziffle, Jessica ; Wadley, Alexandrea F. ; Wagner, Matias ; Wigby, Kristen ; Wortmann, Saskia B. ; Zarate, Yuri A. ; Møller, Rikke S. ; Lemke, Johannes R. ; Platzer, Konrad

Genetics in medicine, 2021-04, Vol.23 (4), p.653-660 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Balasubramanian, Meena ; Dingemans, Alexander J M ; Albaba, Shadi ; Richardson, Ruth ; Yates, Thabo M ; Cox, Helen ; Douzgou, Sofia ; Armstrong, Ruth ; Sansbury, Francis H ; Burke, Katherine B ; Fry, Andrew E ; Ragge, Nicola ; Sharif, Saba ; Foster, Alison ; De Sandre-Giovannoli, Annachiara ; Elouej, Sahar ; Vasudevan, Pradeep ; Mansour, Sahar ; Wilson, Kate ; Stewart, Helen ; Heide, Solveig ; Nava, Caroline ; Keren, Boris ; Demirdas, Serwet ; Brooks, Alice S ; Vincent, Marie ; Isidor, Bertrand ; Küry, Sebastien ; Schouten, Meyke ; Leenders, Erika ; Chung, Wendy K ; Haeringen, Arie van ; Scheffner, Thomas ; Debray, Francois-Guillaume ; White, Susan M ; Palafoll, Maria Irene Valenzuela ; Pfundt, Rolph ; Newbury-Ecob, Ruth ; Kleefstra, Tjitske

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636 [Periódico revisado por pares]

England: Nature Publishing Group

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6
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Barish, Scott ; Barakat, Tahsin Stefan ; Michel, Brittany C. ; Mashtalir, Nazar ; Phillips, Jennifer B. ; Valencia, Alfredo M. ; Ugur, Berrak ; Wegner, Jeremy ; Scott, Tiana M. ; Bostwick, Brett ; Murdock, David R. ; Dai, Hongzheng ; Perenthaler, Elena ; Nikoncuk, Anita ; van Slegtenhorst, Marjon ; Brooks, Alice S. ; Keren, Boris ; Nava, Caroline ; Mignot, Cyril ; Douglas, Jessica ; Rodan, Lance ; Nowak, Catherine ; Ellard, Sian ; Stals, Karen ; Lynch, Sally Ann ; Faoucher, Marie ; Lesca, Gaetan ; Edery, Patrick ; Engleman, Kendra L. ; Zhou, Dihong ; Thiffault, Isabelle ; Herriges, John ; Gass, Jennifer ; Louie, Raymond J. ; Stolerman, Elliot ; Washington, Camerun ; Vetrini, Francesco ; Otsubo, Aiko ; Pratt, Victoria M. ; Conboy, Erin ; Treat, Kayla ; Shannon, Nora ; Camacho, Jose ; Wakeling, Emma ; Yuan, Bo ; Chen, Chun-An ; Rosenfeld, Jill A. ; Westerfield, Monte ; Wangler, Michael ; Yamamoto, Shinya ; Kadoch, Cigall ; Scott, Daryl A. ; Bellen, Hugo J.

American journal of human genetics, 2020-12, Vol.107 (6), p.1096-1112 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene
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Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

Desprairies, Camille ; Valence, Stéphanie ; Maurey, Hélène ; Helal, Suzette I. ; Weckhuysen, Sarah ; Soliman, Hala ; Mefford, Heather C. ; Spentchian, Myrtille ; Héron, Delphine ; Leguern, Eric ; Nava, Caroline ; Bouilleret, Viviane ; Moretti, Raffaella ; Mignot, Cyril

Clinical genetics, 2020-03, Vol.97 (3), p.477-482 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Corbett, Mark A ; Kroes, Thessa ; Veneziano, Liana ; Bennett, Mark F ; Florian, Rahel ; Schneider, Amy L ; Coppola, Antonietta ; Licchetta, Laura ; Franceschetti, Silvana ; Suppa, Antonio ; Wenger, Aaron ; Mei, Davide ; Pendziwiat, Manuela ; Kaya, Sabine ; Delledonne, Massimo ; Straussberg, Rachel ; Xumerle, Luciano ; Regan, Brigid ; Crompton, Douglas ; van Rootselaar, Anne-Fleur ; Correll, Anthony ; Catford, Rachael ; Bisulli, Francesca ; Chakraborty, Shreyasee ; Baldassari, Sara ; Tinuper, Paolo ; Barton, Kirston ; Carswell, Shaun ; Smith, Martin ; Berardelli, Alfredo ; Carroll, Renee ; Gardner, Alison ; Friend, Kathryn L ; Blatt, Ilan ; Iacomino, Michele ; Di Bonaventura, Carlo ; Striano, Salvatore ; Buratti, Julien ; Keren, Boris ; Nava, Caroline ; Forlani, Sylvie ; Rudolf, Gabrielle ; Hirsch, Edouard ; Leguern, Eric ; Labauge, Pierre ; Balestrini, Simona ; Sander, Josemir W ; Afawi, Zaid ; Helbig, Ingo ; Ishiura, Hiroyuki ; Tsuji, Shoji ; Sisodiya, Sanjay M ; Casari, Giorgio ; Sadleir, Lynette G ; van Coller, Riaan ; Tijssen, Marina A J ; Klein, Karl Martin ; van den Maagdenberg, Arn M J M ; Zara, Federico ; Guerrini, Renzo ; Berkovic, Samuel F ; Pippucci, Tommaso ; Canafoglia, Laura ; Bahlo, Melanie ; Striano, Pasquale ; Scheffer, Ingrid E ; Brancati, Francesco ; Depienne, Christel ; Gecz, Jozef

Nature communications, 2019-10, Vol.10 (1), p.4920-10, Article 4920 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E. ; Zhu, Zehua ; Afenjar, Alexandra ; Anderson, Ilse. J. ; Andrews, Marisa V. ; Atkinson, Celia ; Au, Margaret ; Berry, Susan A. ; Bowling, Kevin M. ; Boyle, Jackie ; Buratti, Julien ; Cathey, Sara S. ; Charles, Perrine ; Cogne, Benjamin ; Courtin, Thomas ; Escobar, Luis F. ; Finley, Sabra Ledare ; Graham, John M. ; Grange, Dorothy K. ; Heron, Delphine ; Hewson, Stacy ; Hiatt, Susan M. ; Hibbs, Kathleen A. ; Jayakar, Parul ; Kalsner, Louisa ; Larcher, Lise ; Lesca, Gaetan ; Mark, Paul R. ; Miller, Kathryn ; Nava, Caroline ; Nizon, Mathilde ; Pai, G. Shashidhar ; Pappas, John ; Parsons, Gretchen ; Payne, Katelyn ; Putoux, Audrey ; Rabin, Rachel ; Sabatier, Isabelle ; Shinawi, Marwan ; Shur, Natasha ; Skinner, Steven A. ; Valence, Stephanie ; Warren, Hannah ; Whalen, Sandra ; Crunk, Amy ; Douglas, Ganka ; Monaghan, Kristin G. ; Person, Richard E. ; Willaert, Rebecca ; Solomon, Benjamin D. ; Juusola, Jane

Genetics in medicine, 2019-09, Vol.21 (9), p.2036-2042 [Periódico revisado por pares]

United States: Elsevier Inc

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10
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Piard, Juliette ; Hawkes, Lara ; Milh, Mathieu ; Villard, Laurent ; Borgatti, Renato ; Romaniello, Romina ; Fradin, Melanie ; Capri, Yline ; Héron, Delphine ; Nougues, Marie-Christine ; Nava, Caroline ; Arsene, Oana Tarta ; Shears, Debbie ; Taylor, John ; Pagnamenta, Alistair ; Taylor, Jenny C ; Sogawa, Yoshimi ; Johnson, Diana ; Firth, Helen ; Vasudevan, Pradeep ; Jones, Gabriela ; Nguyen-Morel, Marie-Ange ; Busa, Tiffany ; Roubertie, Agathe ; van den Born, Myrthe ; Brischoux-Boucher, Elise ; Koenig, Michel ; Mignot, Cyril ; Kini, Usha ; Philippe, Christophe

Genetics in medicine, 2019-06, Vol.21 (6), p.1308-1318 [Periódico revisado por pares]

United States: Elsevier Limited

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