| Bibliographic Citation
| - Olson Heather, Jean-Marçais Nolwenn, Yang Edward, Héron Delphine, van der Zwaag Paul, Bijlsma Emilia, Krock Bryan, Begtrup Amber, Telegrafi Aida, Burglen Lydie, Lesca Gaetan, Cho Megan, Pearl Phillip, Nesbitt Addie, Ruivenkamp Claudia A.L., Chatron Nicolas, Sabatier Isabelle, De Bellescize Julitta, Guibaud Laurent, Donadieu Jean, Nava Caroline, Rivière Jean-Baptiste, Vitobello Antonio, Tran Mau-Them Frederic, Philippe Christophe, Bruel Ange-Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan, Schuurs-Hoeijmakers Janneke, Brunner Han, Keren Boris, Thevenon Julien, Faivre Laurence, Thomas Gary. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
- OlsonHeather, Jean-MarçaisNolwenn, YangEdward, HéronDelphine, Tatton-BrownKatrina, van Der ZwaagPaul, BijlsmaEmilia, KrockBryan, BackerE., KamsteegErik-Jan, SinnemaMargje, ReijndersMargot R.F., BeardenDavid, BegtrupAmber, TelegrafiAida, LunsingRoelineke, BurglenLydie, LescaGaetan, ChoMegan, SmithLacey, SheidleyBeth, Moufawad El AchkarChristelle, PearlPhillip, PoduriAnnapurna, SkrabanCara, TarpinianJennifer, NesbittAddie, Fransen van de PutteDietje, RuivenkampClaudia A.L., RumpPatrick, ChatronNicolas, SabatierIsabelle, de BellescizeJulitta, GuibaudLaurent, SweetserDavid, WaxlerJessica, WierengaKlaas, Ddd Study-, DonadieuJean, NarayananVinodh, RamseyKeri, C4rcd Research Group-, NavaCaroline, RivièreJean-Baptiste, VitobelloAntonio, Tran Mau-ThemFrederic, PhilippeChristophe, BruelAnge-Line, DuffourdYannis, ThomasLaurel, LelieveldStefan, Schuurs-HoeijmakersJanneke, BrunnerHan, KerenBoris, ThevenonJulien, FaivreLaurence, ThomasGary . A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis . American Journal of Human Genetics, 2018, 102 (5), pp.995-1007 . ⟨10.1016/j.ajhg.2018.03.005⟩
- Olson Heather, Jean-Marçais Nolwenn, Yang Edward, Héron Delphine, van Der Zwaag Paul, Bijlsma Emilia, Krock Bryan, Begtrup Amber, Telegrafi Aida, Burglen Lydie, Lesca Gaetan, Cho Megan, Pearl Phillip, Nesbitt Addie, Ruivenkamp Claudia A.L., Chatron Nicolas, Sabatier Isabelle, de Bellescize Julitta, Guibaud Laurent, Donadieu Jean, Nava Caroline, Rivière Jean-Baptiste, Vitobello Antonio, Tran Mau-Them Frederic, Philippe Christophe, Bruel Ange-Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan, Schuurs-Hoeijmakers Janneke, Brunner Han, Keren Boris, Thevenon Julien, Faivre Laurence, Thomas Gary . A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis . American Journal of Human Genetics, 2018, 102 (5), pp.995-1007 . ⟨10.1016/j.ajhg.2018.03.005⟩
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