Mendelian Puzzles-Reference-Cited by-同舟云学术

Mendelian Puzzles

Published:2012-02-24 Issue:6071 Volume:335 Page:930-931
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Chakravarti Aravinda¹,Kapoor Ashish¹

Affiliation:

1. Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Abstract

Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference13 articles.

1. McKusick V. A., Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders (Johns Hopkins Univ. Press, Baltimore, ed. 12, 1998).

2. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

3. Exome sequencing identifies the cause of a mendelian disorder

4. Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

5. Strachan T., Read A. P., Human Molecular Genetics (Garland Science, New York, ed. 4, 2011).

Cited by 16 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. Behavioral genetics and animal science;Genetics and the Behavior of Domestic Animals;2022

2. RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction;Human Genetics;2021-01-12

3. Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis;Neurology Genetics;2020-02-27

4. A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance;Documenta Ophthalmologica;2018-08-11

5. Variant haploinsufficiency and phenotypic non-penetrance inPRPF31-associated retinitis pigmentosa;Clinical Genetics;2016-03-04