Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape-Reference-Cited by-同舟云学术

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

Published:2020-02-06 Issue:4 Volume:139 Page:531-543
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

David Dezső^ORCID,Freixo João P.,Fino Joana,Carvalho Inês,Marques Mariana,Cardoso Manuela,Piña-Aguilar Raul E.,Morton Cynthia C.

Funder

Fundação para a Ciência e a Tecnologia

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-020-02121-x.pdf

Reference41 articles.

1. Carbonell AU, Cho CH, Tindi JO et al (2019) Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. Nat Commun 10:3529

2. Chang CP, Neilson JR, Bayle JH et al (2004) A field of myocardial-endocardial NFAT signaling underlies heart valve morphogenesis. Cell 118:649–663

3. Chen W, Kalscheuer V, Tzschach A et al (2008) Mapping translocation breakpoints by next-generation sequencing. Genome Res 18:1143–1149

4. Collins RL, Stone MR, Brand H et al (2016) CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing. bioRxiv. https://doi.org/10.1101/049536

5. Collins RL, Brand H, Redin CE et al (2017) Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol 18:36

Cited by 10 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. Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage;Gene;2023-12

3. Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization;Journal of Assisted Reproduction and Genetics;2023-11-23

4. Balanced Chromosomal Rearrangements Implicate <i>SPATC1L</i> and <i>YIPF5</i> in Non-Obstructive Oligozoospermia and Oligoasthenozoospermia, and of a Derivative Chromosome 22 in Recurrent Miscarriage;2023

5. A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1);Biomedicines;2022-12-21