Not logged in Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder Maroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica Share Save
Prenatal assessment of brain malformations on neuroimaging: an expert panel review Pogledic, Ivana; Mankad, Kshitij; Severino, Mariasavina; Lerman-Sagie, Tally; Jakab, Andras; Hadi, Efrat; Jansen, Anna C.; Bahi-Buisson, Nadia; Di Donato, Natalya; Oegema, Renske; Mitter, Christian; Capo, Ivan; Whitehead, Matthew T.; Haldipur, Parthiv; Mancini, Grazia; Huisman, Thierry A. G. M.; Righini, Andrea; Dobyns, Bill; Barkovich, James A.; Milosevic, Natasa Jovanov; Kasprian, Gregor; Lequin, Maarten Share Save
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023) Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin Share Save
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin Share Save
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A. Share Save
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues Smits, Daphne J. J.; Schot, Rachel; Popescu, Cristiana A. A.; Dias, Kerith-Rae; Ades, Lesley; Briere, Lauren C. C.; Sweetser, David A. A.; Kushima, Itaru; Aleksic, Branko; Khan, Suliman; Karageorgou, Vasiliki; Ordonez, Natalia; Sleutels, Frank J. G. T.; van der Kaay, Danielle C. M.; Van Mol, Christine; Van Esch, Hilde; Bertoli-Avella, Aida M. M.; Roscioli, Tony; Mancini, Grazia M. S. Share Save
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy Chun, Young Wook; Miyamoto, Matthew; Williams, Charles H.; Neitzel, Leif R.; Silver-Isenstadt, Maya; Cadar, Adrian G.; Fuller, Daniela T.; Fong, Daniel C.; Liu, Hanhan; Lease, Robert; Kim, Sungseek; Katagiri, Mikako; Durbin, Matthew D.; Wang, Kuo-Chen; Feaster, Tromondae K.; Sheng, Calvin C.; Neely, M. Diana; Sreenivasan, Urmila; Cortes-Gutierrez, Marcia; Finn, Aloke V.; Schot, Rachel; Mancini, Grazia M. S.; Ament, Seth A.; Ess, Kevin C.; Bowman, Aaron B.; Han, Zhe; Bichell, David P.; Su, Yan Ru; Hong, Charles C. Share Save
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Gafner, M.; Garel, C.; Leibovitz, Z.; Valence, S.; Haratz, K. Krajden; Oegema, R.; Mancini, G. M. S.; Heron, D.; Bueltmann, E.; Burglen, L.; Rodriguez, D.; Huisman, T. A. G. M.; Lequin, M. H.; Arad, A.; Kidron, D.; Muqary, M.; Gindes, L.; Lev, D.; Boltshauser, E.; Lerman-Sagie, T. Share Save
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes Smits, Daphne J.; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermoehlen, Olaf; Mulder, Monique T.; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R.; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A.; Slotman, Johan A.; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J.; Nguyen, Laurent; Mancini, Grazia M. S. Share Save
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders Dekker, Jordy; Schot, Rachel; Bongaerts, Michiel; Valk, Walter G. de; Veghel-Plandsoen, Monique M. van; Monfils, Kathryn; Douben, Hannie; Elfferich, Peter; Kasteleijn, Esmee; Unen, Leontine M. A. van; Geeven, Geert; Saris, Jasper J.; Ierland, Yvette van; Verheijen, Frans W.; Sterre, Marianne L. T. van der; Niaraki, Farah Sadeghi; Smits, Daphne J.; Huidekoper, Hidde H.; Williams, Monique; Wilke, Martina; Verhoeven, Virginie J. M.; Joosten, Marieke; Kievit, Anneke J. A.; Laar, Ingrid M. B. H. van de; Hoefsloot, Lies H.; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Mancini, Grazia M. S.; Ham, Tjakko J. van Share Save
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B Brock, Stefanie; Laquerriere, Annie; Marguet, Florent; Myers, Scott J.; Hongjie, Yuan; Baralle, Diana; Vanderhasselt, Tim; Stouffs, Katrien; Keymolen, Kathelijn; Kim, Sukhan; Allen, James; Shaulsky, Gil; Chelly, Jamel; Marcorelle, Pascale; Aziza, Jacqueline; Villard, Laurent; Sacaze, Elise; de Wit, Marie C. Y.; Wilke, Martina; Mancini, Grazia Maria Simonetta; Hehr, Ute; Lim, Derek; Mansour, Sahar; Traynelis, Stephen F.; Beneteau, Claire; Denis-Musquer, Marie; Jansen, Anna C.; Fry, Andrew E.; Bahi-Buisson, Nadia Share Save
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder Kury, 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
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
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy Gabrielle, Pierre-Henry; Faivre, Laurence; Audo, Isabelle; Zanlonghi, Xavier; Dollfus, Helene; Thiadens, Alberta A. H. J.; Zeitz, Christina; Mancini, Grazia M. S.; Perdomo, Yaumara; Mohand-Said, Saddek; Lize, Eleonore; Lhussiez, Vincent; Nandrot, Emeline F.; Acar, Niyazi; Creuzot-Garcher, Catherine; Sahel, Jose-Alain; Ansar, Muhammad; Thauvin-Robinet, Christel; Duplomb, Laurence; Da Costa, Romain Share Save
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G.; Lorenzo, Damaris N. Share Save
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism Chopra, 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
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; van 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 Share Save
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria Vetro, Annalisa; Nielsen, Hang N.; Holm, Rikke; Hevner, Robert F.; Parrini, Elena; Powis, Zoe; Moller, Rikke S.; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaetan; Helbig, Katherine L.; Palmer, Elizabeth E.; Mei, Davide; Ballardini, Elisa; Van Haeringen, Arie; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J.; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M. S.; Clayton-Smith, Jill; Bigoni, Stefania; Scheffer, Ingrid E.; Dobyns, William B.; Vilsen, Bente; Guerrini, Renzo Share Save
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy Ragamin, Aviel; Gomes, Carolina C.; Bindels-de Heus, Karen; Sandoval, Renata; Bassenden, Angelia, V; Dib, Luciano; Kok, Fernando; Alves, Julieta; Mathijssen, Irene; Medici-van den Herik, Evita; Eveleigh, Robert; Gayden, Tenzin; Pullens, Bas; Berghuis, Albert; van Slegtenhorst, Marjon; Wilke, Martina; Jabado, Nada; Mancini, Grazia Maria Simonetta; Gomez, Ricardo Santiago Share Save
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