The phenotypic spectrum of Xia-Gibbs syndrome-Reference-Cited by-同舟云学术

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The phenotypic spectrum of Xia-Gibbs syndrome

Published:2018-04-25 Issue:6 Volume:176 Page:1315-1326
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jiang Yunyun¹²,Wangler Michael F.²³,McGuire Amy L.⁴,Lupski James R.¹²³⁵,Posey Jennifer E.²,Khayat Michael M.¹²,Murdock David R.¹²,Sanchez-Pulido Luis⁶,Ponting Chris P.⁶,Xia Fan²,Hunter Jill V.³,Meng Qingchang¹²,Murugan Mullai¹²,Gibbs Richard A.¹²^ORCID

Affiliation:

1. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

2. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

3. Texas Children's Hospital; Houston Texas

4. Center for Medical Ethics and Health Policy; Baylor College of Medicine; Houston Texas

5. Department of Pediatrics; Baylor College of Medicine; Houston Texas

6. Medical Research Council Human Genetics Unit; IGMM, University of Edinburgh; Edinburgh United Kingdom

Funder

Texas A and M University

National Human Genome Research Institute

Private Donation to Baylor College of Medicine

UK Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge;Genome Medicine,2013

2. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature;Balasubramanian;Journal of Medical Genetics,2017

3. Novel genetic causes for cerebral visual impairment;Bosch;European Journal of Human Genetics,2016

4. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway;Enns;Genetics Medicine,2014

5. DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources;Firth;American Journal of Human Genetics,2009

Cited by 33 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. <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome;Molecular Syndromology;2024-05-20

2. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature;Molecular Syndromology;2023-09-08

3. Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T);Stem Cell Research;2023-06

4. A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders;Frontiers in Molecular Neuroscience;2022-10-06

5. Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism;Human Mutation;2022-09-24

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