Literature DB >> 24363373

When a "disease-causing mutation" is not a pathogenic variant.

Jian Wang1, Yiping Shen.   

Abstract

Mesh：

Year:  2013        PMID： 24363373     DOI： 10.1373/clinchem.2013.215947

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  10 in total

1.  Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

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Journal:  Eur J Hum Genet       Date:  2016-09-28       Impact factor: 4.246

2.  DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.

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Journal:  Hum Genet       Date:  2022-02-19       Impact factor: 4.132

3.  Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

Authors:  Marco Carraro; Giovanni Minervini; Manuel Giollo; Yana Bromberg; Emidio Capriotti; Rita Casadio; Roland Dunbrack; Lisa Elefanti; Pietro Fariselli; Carlo Ferrari; Julian Gough; Panagiotis Katsonis; Emanuela Leonardi; Olivier Lichtarge; Chiara Menin; Pier Luigi Martelli; Abhishek Niroula; Lipika R Pal; Susanna Repo; Maria Chiara Scaini; Mauno Vihinen; Qiong Wei; Qifang Xu; Yuedong Yang; Yizhou Yin; Jan Zaucha; Huiying Zhao; Yaoqi Zhou; Steven E Brenner; John Moult; Silvio C E Tosatto
Journal:  Hum Mutat       Date:  2017-05-16       Impact factor: 4.878

4.  The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Authors:  Shin-Ya Nishio; Shin-Ichi Usami
Journal:  Hum Mutat       Date:  2017-01-11       Impact factor: 4.878

5.  The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.

Authors:  Dan Li; Qinghe Jing; Yongxiang Jiang
Journal:  BMC Med Genet       Date:  2019-09-05       Impact factor: 2.103

6.  Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.

Authors:  Niaz Muhammad Khan; Muhammad Shareef Masoud; Shahid Mahmood Baig; Muhammad Qasim; Junlei Chang
Journal:  Biomed Res Int       Date:  2022-03-03       Impact factor: 3.411

7.  Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Authors:  M Pilar Bayona-Bafaluy; Ester López-Gallardo; Sonia Emperador; David Pacheu-Grau; Julio Montoya; Eduardo Ruiz-Pesini
Journal:  Orphanet J Rare Dis       Date:  2022-08-19       Impact factor: 4.303

8.  ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Authors:  Jinlian Wang; Jun Liao; Jinglan Zhang; Wei-Yi Cheng; Jörg Hakenberg; Meng Ma; Bryn D Webb; Rajasekar Ramasamudram-Chakravarthi; Lisa Karger; Lakshmi Mehta; Ruth Kornreich; George A Diaz; Shuyu Li; Lisa Edelmann; Rong Chen
Journal:  Genome Med       Date:  2015-07-29       Impact factor: 11.117

9.  Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.

Authors:  Aliz R Rao; Stanley F Nelson
Journal:  BMC Med Genomics       Date:  2018-06-13       Impact factor: 3.622

10.  Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.

Authors:  Sara Saez-Atienzar; Clifton L Dalgard; Jinhui Ding; Adriano Chiò; Camile Alba; Dan N Hupalo; Matthew D Wilkerson; Robert Bowser; Erik P Pioro; Richard Bedlack; Bryan J Traynor
Journal:  Neurology       Date:  2020-10-19       Impact factor: 9.910
  10 in total

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