Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication-Reference-Cited by-同舟云学术

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

Published:2019-12-10 Issue:1 Volume:21 Page:67-72
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Smol Thomas,Thuillier Caroline,Boudry-Labis Elise,Dieux-Coeslier Anne,Duban-Bedu Bénédicte,Caumes Roseline,Bouquillon Sonia,Manouvrier-Hanu Sylvie,Roche-Lestienne Catherine,Ghoumid Jamal^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-019-00599-w.pdf

Reference22 articles.

1. Coe BP, Witherspoon K, Rosenfeld JA, van Bon B, Vulto-van Silfhout A, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE (2014) Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet 46:1063–1071. https://doi.org/10.1038/ng.3092

2. Van Den Bossche MJ, Johnstone M, Strazisar M et al (2012) Rare copy number variants in neuropsychiatric disorders: specific phenotype or not? Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet 159B:812–822. https://doi.org/10.1002/ajmg.b.32088

3. Breckpot J, Vercruyssen M, Weyts E et al (2016) Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. Eur J Med Genet 59:436–443. https://doi.org/10.1016/j.ejmg.2016.08.003

4. Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM (2007) Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet 44:556–561. https://doi.org/10.1136/jmg.2007.050823

5. Neale BM, Kou Y, Liu L et al (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485:242–245. https://doi.org/10.1038/nature11011

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Splice site variants in the canonical donor site ofMED13Lexon 7 lead to intron retention in patients withMED13Lsyndrome;Journal of Medical Genetics;2024-08-24

2. Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing <i>RAI1</i>;OBM Genetics;2024-03-05

3. Supt16haploinsufficiency causes neurodevelopment disorder by disrupting MAPK pathway in neural stem cells;Human Molecular Genetics;2022-10-13

4. Highlighting the Dystonic Phenotype Related to GNAO1 ;Movement Disorders;2022-06-20

5. The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review;Journal of Neurodevelopmental Disorders;2022-06-11