Literature DB >> 25854183

Genetic testing. ACMG guides on the interpretation of sequence variants.

Orli G Bahcall.   

Abstract

Mesh：

Year:  2015        PMID： 25854183     DOI： 10.1038/nrg3940

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  1 in total

1.  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
  1 in total
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1.  The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray.

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Journal:  Mol Genet Genomics       Date:  2019-05-18       Impact factor: 3.291

2.  Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.

Authors:  Yoko Inoue; Osamu Machida; Yosuke Kita; Toshiyuki Yamamoto
Journal:  Intractable Rare Dis Res       Date:  2022-08

3.  Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Authors:  Shafaq Khairi; Jenae Osborne; Michelle F Jacobs; Gregory T Clines; Barbra S Miller; David T Hughes; Tobias Else
Journal:  Horm Cancer       Date:  2020-08-05       Impact factor: 3.869

4.  Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Authors:  Xiaosen Ma; Ming Li; Anli Tong; Fen Wang; Yunying Cui; Xuebin Zhang; Yushi Zhang; Shi Chen; Yuxiu Li
Journal:  Front Endocrinol (Lausanne)       Date:  2020-12-11       Impact factor: 5.555

5.  Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.

Authors:  Mi Tian; Hui Peng; Xin Bi; Yan-Qiu Wang; Yong-Zhe Zhang; Yan Wu; Bei-Ru Zhang
Journal:  Front Med (Lausanne)       Date:  2022-04-07

6.  Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.

Authors:  Yang Liu; Jin-Jin Zhang; Shun-Yu Piao; Ren-Juan Shen; Ya Ma; Zhong-Qi Xue; Wen Zhang; Juan Liu; Zi-Bing Jin; Wen-Juan Zhuang
Journal:  Front Cell Dev Biol       Date:  2021-06-18

7.  Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel.

Authors:  Rotem Tal-Ben Ishay; Apurba Shil; Shirley Solomon; Noa Sadigurschi; Hadeel Abu-Kaf; Gal Meiri; Hagit Flusser; Analya Michaelovski; Ilan Dinstein; Hava Golan; Nadav Davidovitch; Idan Menashe
Journal:  Genes (Basel)       Date:  2021-12-23       Impact factor: 4.096
  7 in total

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