SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
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- Authors:
- Radio, Francesca Clementina
Pang, Kaifang
Ciolfi, Andrea
Levy, Michael A.
Hernández-García, Andrés
Pedace, Lucia
Pantaleoni, Francesca
Liu, Zhandong
e Boer, Elke
Jackson, Adam
Bruselles, Alessandro
McConkey, Haley
Stellacci, Emilia
Lo Cicero, Stefania
Motta, Marialetizia
Carrozzo, Rosalba
Dentici, Maria Lisa
McWalter, Kirsty
Desai, Megha
Monaghan, Kristin G.
Telegrafi, Aida
Philippe, Christophe
Vitobello, Antonio
Au, Margaret
Grand, Katheryn
Sanchez-Lara, Pedro A.
Baez, Joanne
Lindstrom, Kristin
Kulch, Peggy
Sebastian, Jessica
Madan-Khetarpal, Suneeta
Roadhouse, Chelsea
MacKenzie, Jennifer J.
Monteleone, Berrin
Saunders, Carol J.
Jean Cuevas, July K.
Cross, Laura
Zhou, Dihong
Hartley, Taila
Sawyer, Sarah L.
Monteiro, Fabíola Paoli
Secches, Tania Vertemati
Kok, Fernando
Schultz-Rogers, Laura E.
Macke, Erica L.
Morava, Eva
Klee, Eric W.
Kemppainen, Jennifer
Iascone, Maria
Selicorni, Angelo
Tenconi, Romano
Amor, David J.
Pais, Lynn
Gallacher, Lyndon
Turnpenny, Peter D.
Stals, Karen
llard, Sian
Cabet, Sara
Lesca, Gaetan
Pascal, Joset
Steindl, Katharina
Ravid, Sarit
Weiss, Karin
Castle, Alison M.R.
Carter, Melissa T.
Kalsner, Louisa
e Vries, Bert B.A.
van Bon, Bregje W.
Wevers, Marijke R.
Pfundt, Rolph
Stegmann, Alexander P.A.
Kerr, Bronwyn
Kingston, Helen M.
Chandler, Kate E.
Sheehan, Willow
lias, Abdallah F.
Shinde, Deepali N.
Towne, Meghan C.
Robin, Nathaniel H.
Goodloe, Dana
Vanderver, Adeline
Sherbini, Omar
Bluske, Krista
Hagelstrom, R. Tanner
Zanus, Caterina
Faletra, Flavio
Musante, Luciana
Kurtz-Nelson, Evangeline C.
arl, Rachel K.
Anderlid, Britt Marie
Morin, Gilles
van Slegtenhorst, Marjon
Diderich, Karin E.M.
Brooks, Alice S.
Gribnau, Joost
Boers, Ruben G.
Finestra, Teresa Robert
Carter, Lauren B.
Rauch, Anita
Gasparini, Paolo
Boycott, Kym M.
Barakat, Tahsin Stefan
Graham, John M.
Faivre, Laurence
Banka, Siddharth
Wang, Tianyun
ichler, Evan E.
Priolo, Manuela
Dallapiccola, Bruno
Vissers, Lisenka E.L.M.
Sadikovic, Bekim
Scott, Daryl A.
Holder, Jimmy Lloyd
Tartaglia, Marco
Clinical Genetics
Developmental Biology - Source:
- American Journal of Human Genetics. 108(3):502-516
- Publication Date:
- 2021-03-04
- Language:
- English
- Format:
- Periodical
- DOI:
- 10.1016/j.ajhg.2021.01.015
- Database:
- NARCIS
- Journal:
- American Journal of Human Genetics
- Volume:
- 108
- Issue:
- 3
- Page Start:
- 502
- Page Count:
- 15
- ISSN:
- 00029297 and 15376605
