X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1

Open Journal of Genetics

ISSN Print: 2162-4453
ISSN Online: 2162-4461
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Citations

"X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1"
written by David J. Bunyan, David O. Robinson, Anthony G. Tyers, Shuwen Huang, Vivienne K. Maloney, Francis H. Grand, Sarah Ennis, Samantha R. de Silva, John A. Crolla, Tristan F. W. McMullan,
published by Open Journal of Genetics, Vol.4 No.6, 2014

has been cited by the following article(s):

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[1]	Xq27. 1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)
	Journal of Human …, 2022

[2]	Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome
	Siles, ML Kennerson - Frontiers in Genetics, 2022

[3]	Structural variation in genomes and its role in disease
	2021

[4]	Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
	2020

[5]	A 105 kb interstitial insertion in the Xq27. 1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype
	2019

[6]	Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
	2019

[7]	Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
	Molecular genetics & genomic medicine, 2018

[8]	Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
	PLOS Genetics, 2016

[9]	Prioritization of genes driving congenital phenotypes of patients with de novo genomic 1 structural variants 2

[1]	Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 The American Journal of Human Genetics, 2025 DOI:10.1016/j.ajhg.2025.01.007

[2]	Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome Frontiers in Genetics, 2022 DOI:10.3389/fgene.2022.842860

[3]	Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome) Journal of Human Genetics, 2022 DOI:10.1038/s10038-022-01018-z

[4]	Interpreting the impact of noncoding structural variation in neurodevelopmental disorders Genetics in Medicine, 2021 DOI:10.1038/s41436-020-00974-1

[5]	A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype Journal of Translational Medicine, 2019 DOI:10.1186/s12967-019-1887-2

[6]	Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants Genome Medicine, 2019 DOI:10.1186/s13073-019-0692-0

[7]	Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation Molecular Genetics & Genomic Medicine, 2018 DOI:10.1002/mgg3.390

[8]	Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3 PLOS Genetics, 2016 DOI:10.1371/journal.pgen.1006177

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