Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations-Reference-Cited by-同舟云学术

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Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Published:2013-01-12 Issue:3 Volume:50 Page:144-150
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Schluth-Bolard Caroline,Labalme Audrey,Cordier Marie-Pierre,Till Marianne,Nadeau Gwenaël,Tevissen Hélène,Lesca Gaétan,Boutry-Kryza Nadia,Rossignol Sylvie,Rocas Delphine,Dubruc Estelle,Edery Patrick,Sanlaville Damien

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 96 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. Characterization of cryptic complex chromosome rearrangements in balanced chromosomal rearrangement carriers and their PGT-SR clinical outcome assessments;Scientific Reports;2024-09-05

2. De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam;PLOS ONE;2024-03-07

3. Prenatal diagnosis via Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester;2023-11-29

4. Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping;Frontiers in Genetics;2023-09-04

5. Resolving complex structural variants via nanopore sequencing;Frontiers in Genetics;2023-08-16

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