Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion-Reference-Cited by-同舟云学术

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Published:2013-11-14 Issue:2 Volume:2 Page:115-123
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cheng Yu‐Wei¹,Tan Christopher A.¹,Minor Agata²,Arndt Kelly¹,Wysinger Latrice¹,Grange Dorothy K.³,Kozel Beth A.³,Robin Nathaniel H.⁴,Waggoner Darrel¹,Fitzpatrick Carrie²,Das Soma¹,Gaudio Daniela del¹

Affiliation:

1. Department of Human Genetics University of Chicago Chicago Illinois

2. Department of Pathology University of Chicago Chicago Illinois

3. Department of Pediatrics Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri

4. Department of Genetics University of Alabama at Birmingham Birmingham Alabama

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.48

Reference25 articles.

1. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

2. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome

3. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

4. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

5. Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Cited by 12 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. Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome;Frontiers in Genetics;2024-03-13

2. Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance;Journal of Cellular Physiology;2021-06-25

3. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses;Human Mutation;2020-11-11

4. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome;Journal of Human Genetics;2019-07-23

5. Insights into genetics, human biology and disease gleaned from family based genomic studies;Genetics in Medicine;2019-04