SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

F.C. Radio, K.F. Pang, A. Ciolfi, M.A. Levy, A. Hernandez-Garcia, L. Pedace, F. Pantaleoni, Z.D. Liu, E. de Boer, A. Jackson, A. Bruselles, H. McConkey, E. Stellacci, S. Lo Cicero, M. Motta, R. Carrozzo, M.L. Dentici, K. McWalter, M. Desai, K.G. MonaghanA. Telegrafi, C. Philippe, A. Vitobello, M. Au, K. Grand, P.A. Sanchez-Lara, J. Baez, K. Lindstrom, P. Kulch, J. Sebastian, S. Madan-Khetarpal, C. Roadhouse, J.J. MacKenzie, B. Monteleone, C.J. Saunders, J.K.J. Cuevas, L. Cross, D.H. Zhou, T. Hartley, S.L. Sawyer, F.P. Monteiro, T.V. Secches, F. Kok, L.E. Schultz-Rogers, E.L. Macke, E. Morava, E.W. Klee, J. Kemppainen, M. Iascone, A. Selicorni, A.P.A. Stegmann, Marco Tartaglia*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

21 Citations (Web of Science)
Original languageEnglish
Pages (from-to)502-516
Number of pages15
JournalAmerican Journal of Human Genetics
Volume108
Issue number3
DOIs
Publication statusPublished - 4 Mar 2021

Keywords

  • SPLIT-ENDS
  • MONOSOMY 1P36
  • MOLECULAR CHARACTERIZATION
  • PHENOTYPE CORRELATIONS
  • REVEALS
  • SHARP
  • MUTATIONS
  • PROTEIN
  • GENE
  • IDENTIFICATION

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