SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Al-Jawahiri, R orcid.org/0000-0002-5689-3368, Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Al-Jawahiri, R ORCID logo https://orcid.org/0000-0002-5689-3368
  • Foroutan, A
  • Kerkhof, J
  • McConkey, H
  • Levy, M
  • Haghshenas, S
  • Rooney, K
  • Turner, J
  • Shears, D
  • Holder, M
  • Lefroy, H
  • Castle, B
  • Reis, LM
  • Semina, EV
  • Lachlan, K
  • Chandler, K
  • Wright, T
  • Clayton-Smith, J
  • Hug, FP
  • Pitteloud, N
  • Bartoloni, L
  • Hoffjan, S
  • Park, S-M
  • Thankamony, A
  • Lees, M
  • Wakeling, E
  • Naik, S
  • Hanker, B
  • Girisha, KM
  • Agolini, E
  • Giuseppe, Z
  • Alban, Z
  • Tessarech, M
  • Keren, B
  • Afenjar, A
  • Zweier, C
  • Reis, A
  • Smol, T
  • Tsurusaki, Y
  • Nobuhiko, O
  • Sekiguchi, F
  • Tsuchida, N
  • Matsumoto, N
  • Kou, I
  • Yonezawa, Y
  • Ikegawa, S
  • Callewaert, B
  • Freeth, M ORCID logo https://orcid.org/0000-0003-0534-9095
  • Kleinendorst, L
  • Donaldson, A
  • Alders, M
  • De Paepe, A
  • Sadikovic, B
  • McNeill, A
  • Nickerson, D
  • Bamshad, M
  • Leal, S
  • Ambrose, JC
  • Arumugam, P
  • Bevers, R
  • Bleda, M
  • Boardman-Pretty, F
  • Boustred, CR
  • Brittain, H
  • Caulfield, MJ
  • Chan, GC
  • Elgar, G
  • Fowler, T
  • Giess, A
  • Hamblin, A
  • Henderson, S
  • Hubbard, TJP
  • Jackson, R
  • Jones, LJ
  • Kasperaviciute, D
  • Kayikci, M
  • Kousathanas, A
  • Lahnstein, L
  • Leigh, SEA
  • Leong, IUS
  • Lopez, JF
  • FionaMaleady-Crowe
  • McEntagart, M
  • Minneci, F
  • Moutsianas, L
  • Mueller, M
  • Murugaesu, N
  • Need, AC
  • O’Donovan, P
  • Odhams, CA
  • Patch, C
  • Pereira, MB
  • Perez-Gil, D
  • Pullinger, J
  • TahrimaRahim
  • Rendon, A
  • TimRogers
  • Savage, K
  • Sawant, K
  • Scott, RH
  • Siddiq, A
  • Sieghart, A
  • Smith, SC
  • Sosinsky, A
  • Stuckey, A
  • Tanguy, M
  • Taylor Tavares, AL
  • Thomas, ERA
  • Thompson, SR
  • Tucci, A
  • Welland, MJ
  • Williams, E
  • Witkowska, K
  • Wood, SM
Copyright, Publisher and Additional Information:

© 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: Exome; Genome sequencing; Hypogonadism; Methylation; Neurodevelopmental disorder; SOX11
Dates:
  • Published: June 2022
  • Published (online): 24 March 2022
  • Accepted: 18 February 2022
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Science (Sheffield) > Department of Psychology (Sheffield)
Funding Information:
Funder
Grant number
BAILY THOMAS FOUNDATION
TRUST/VC/AC/SG/5399-8436
Depositing User: Symplectic Sheffield
Date Deposited: 31 Aug 2022 14:14
Last Modified: 31 Aug 2022 14:14
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1016/j.gim.2022.02.013
Related URLs:
Open Archives Initiative ID (OAI ID):

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