Not logged in Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function Alpaslan, Murat; Fastre, Elodie; Mestre, Sandrine; van Haeringen, Arie; Repetto, Gabriela M.; Keymolen, Kathelijn; Boon, Laurence M.; Belva, Florence; Giacalone, Guido; Revencu, Nicole; Sznajer, Yves; Riches, Katie; Keeley, Vaughan; Mansour, Sahar; Gordon, Kristiana; Martin-Almedina, Silvia; Dobbins, Sara; Ostergaard, Pia; Quere, Isabelle; Brouillard, Pascal; Vikkula, Miikka Share Save
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia Share Save
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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders Lee, Sunwoo; Menzies, Lara; Hay, Eleanor; Ochoa, Eguzkine; Docquier, France; Rodger, Fay; Deshpande, Charu; Foulds, Nicola C.; Jacquemont, Sebastien; Jizi, Khadije; Kiep, Henriette; Kraus, Alison; Loehner, Katharina; Morrison, Patrick J.; Popp, Bernt; Richardson, Ruth; van Haeringen, Arie; Martin, Ezequiel; Toribio, Ana; Li, Fudong; Jones, Wendy D.; Sansbury, Francis H.; Maher, Eamonn R. Share Save
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (vol 3, 100102, 2022) Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome Liang, Lina; Liu, Huihui; Bartholdi, Deborah; van Haeringen, Arie; Fernandez-Jaen, Alberto; Peeters, Els E. A.; Xiong, Hongbo; Bai, Xuemei; Xu, Chengqi; Ke, Tie; Wang, Qing K. Share Save
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature Lauffer, Peter; Boudin, Eveline; van der Kaay, Danielle C. M.; Koene, Saskia; van Haeringen, Arie; van Tellingen, Vera; Van Hul, Wim; Prickett, Timothy C. R.; Mortier, Geert; Espiner, Eric A.; van Duyvenvoorde, Hermine A. Share Save
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies Schroeter, Julian; Popp, Bernt; Brennenstuhl, Heiko; Doering, Jan H.; Donze, Stephany H.; Bijlsma, Emilia K.; van Haeringen, Arie; Huhle, Dagmar; Jestaedt, Leonie; Merkenschlager, Andreas; Arelin, Maria; Graefe, Daniel; Neuser, Sonja; Oates, Stephanie; Pal, Deb K.; Parker, Michael J.; Lemke, Johannes R.; Hoffmann, Georg F.; Koelker, Stefan; Harting, Inga; Syrbe, Steffen Share Save
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons (Jun, 10.1038/s41380-021-01234-7. 2021) Runge, Karen; Mathieu, Remi; Bugeon, Stephane; Lafi, Sahra; Beurrier, Corinne; Sahu, Surajit; Schaller, Fabienne; Loubat, Arthur; Herault, Leonard; Gaillard, Stephane; Pallesi-Pocachard, Emilie; Montheil, Aurelie; Bosio, Andreas; Rosenfeld, Jill A.; Hudson, Eva; Lindstrom, Kristin; Mercimek-Andrews, Saadet; Jeffries, Lauren; van Haeringen, Arie; Vanakker, Olivier; Van Hecke, Audrey; Amrom, Dina; Kury, Sebastien; Ratner, Chana; Jethva, Reena; Gamble, Candace; Jacq, Bernard; Fasano, Laurent; Santpere, Gabriel; Lorente-Galdos, Belen; Sestan, Nenad; Gelot, Antoinette; Giacuzz, Sylvie; Goebbels, Sandra; Represa, Alfonso; Cardoso, Carlos; Cremer, Harold; de Chevigny, Antoine Share Save
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B. S.; Lerche, Holger; Lemke, Johannes R.; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E.; Rehm, Heidi L.; McLaughlin, Heather; Bolz, Hanno J.; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Baehring, Robert Share Save
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons Runge, Karen; Mathieu, Remi; Bugeon, Stephane; Lafi, Sahra; Beurrier, Corinne; Sahu, Surajit; Schaller, Fabienne; Loubat, Arthur; Herault, Leonard; Gaillard, Stephane; Pallesi-Pocachard, Emilie; Montheil, Aurelie; Bosio, Andreas; Rosenfeld, Jill A.; Hudson, Eva; Lindstrom, Kristin; Mercimek-Andrews, Saadet; Jeffries, Lauren; van Haeringen, Arie; Vanakker, Olivier; Van Hecke, Audrey; Amrom, Dina; Kury, Sebastien; Ratner, Chana; Jethva, Reena; Gamble, Candace; Jacq, Bernard; Fasano, Laurent; Santpere, Gabriel; Lorente-Galdos, Belen; Sestan, Nenad; Gelot, Antoinette; Giacuzz, Sylvie; Goebbels, Sandra; Represa, Alfonso; Cardoso, Carlos; Cremer, Harold; de Chevigny, Antoine Share Save
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna 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
Clinical delineation of SETBP1 haploinsufficiency disorder Jansen, Nadieh A.; Braden, Ruth O.; Srivastava, Siddharth; Otness, Erin F.; Lesca, Gaetan; Rossi, Massimiliano; Nizon, Mathilde; Bernier, Raphael A.; Quelin, Chloe; van Haeringen, Arie; Kleefstra, Tjitske; Wong, Maggie M. K.; Whalen, Sandra; Fisher, Simon E.; Morgan, Angela T.; van Bon, Bregje W. Share Save
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; Kury, 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 Share Save
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020) Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. Share Save
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Dalla Bernardina, Bernardo; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. Share Save
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature Lauffer, Peter; Miranda-Laferte, Erick; van Duyvenvoorde, Hermine A.; van Haeringen, Arie; Werner, Franziska; Boudin, Eveline; Schmidt, Hannes; Mueller, Thomas D.; Kuhn, Michaela; van der Kaay, Danielle C. M. Share Save
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