Clan genomics: From OMIM phenotypic traits to genes and biology-Reference-Cited by-同舟云学术

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Clan genomics: From OMIM phenotypic traits to genes and biology

Published:2021-08-18 Issue:11 Volume:185 Page:3294-3313
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lupski James R.¹²³⁴^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Department of Pediatrics Baylor College of Medicine Houston Texas USA

3. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

4. Texas Children's Hospital Houston Texas USA

Funder

National Institute of Neurological Disorders & Stroke

The National Human Genome Research Institute

NIGMS

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62434

Reference144 articles.

1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

2. OMIM.org: leveraging knowledge across phenotype–gene relationships

3. Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

4. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

5. The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats

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