Literature DB >> 26963279

Response to Biesecker.

Mi-Ae Jang1,2, Won Park3,4, Namshin Kim3,4, Chang-Seok Ki1.   

Abstract

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Year:  2016        PMID： 26963279     DOI： 10.1038/gim.2016.20

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  5 in total

Review 1.  Mutations in RYR1 in malignant hyperthermia and central core disease.

Authors:  Rachel Robinson; Danielle Carpenter; Marie-Anne Shaw; Jane Halsall; Philip Hopkins
Journal:  Hum Mutat       Date:  2006-10       Impact factor: 4.878

2.  Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

Authors:  Duck-Woo Kim; Il-Jin Kim; Hio-Chung Kang; Sang-Geun Jang; Kun Kim; Hyun-Ju Yoon; Sun-A Ahn; Song Yee Han; Seung-Hyun Hong; Jung-A Hwang; Dae Kyung Sohn; Seung-Yong Jeong; Hyo Seong Choi; Chang Won Hong; Seok-Byung Lim; Jae-Gahb Park
Journal:  Int J Colorectal Dis       Date:  2007-02-15       Impact factor: 2.571

3.  Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.

Authors:  Mi-Ae Jang; Sang-Heon Lee; Namshin Kim; Chang-Seok Ki
Journal:  Genet Med       Date:  2015-04-09       Impact factor: 8.822

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

5.  Overcalling secondary findings.

Authors:  Leslie G Biesecker
Journal:  Genet Med       Date:  2016-03-17       Impact factor: 8.822
  5 in total

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