Actionable Genes, Core Databases, and Locus-Specific Databases-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Actionable Genes, Core Databases, and Locus-Specific Databases

Published:2016-09-26 Issue:12 Volume:37 Page:1299-1307
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pinard Amélie¹,Miltgen Morgane¹,Blanchard Arnaud¹,Mathieu Hélène¹,Desvignes Jean-Pierre¹,Salgado David¹,Fabre Aurélie¹²,Arnaud Pauline³⁴⁵,Barré Laura¹,Krahn Martin¹²,Grandval Philippe¹⁶,Olschwang Sylviane¹²⁷⁸,Zaffran Stéphane¹,Boileau Catherine³⁴⁵,Béroud Christophe¹²,Collod-Béroud Gwenaëlle¹

Affiliation:

1. Aix Marseille Univ; INSERM; GMGF; Marseille France

2. APHM, Hôpital Timone Enfants; Laboratoire de Génétique Moléculaire; Marseille 13385 France

3. AP-HP; Hôpital Bichat; Centre National de Référence pour le syndrome de Marfan et apparentés; Paris France

4. UFR de Médecine; Diderot Paris Université Paris 7; Paris France

5. Inserm; U1148 Paris France

6. AP-HM; Hôpital de la Timone; Gastroentérologie; Marseille France

7. Hôpital Clairval; Ramsay Générale de Santé; Marseille France

8. Hôpital Européen; Fondation Ambroise Paré; Marseille France

Funder

Aix-Marseille Université

Institut National de la Santé et de la Recherche Médicale

European Union Seventh Framework Program

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. A global reference for human genetic variation;Auton;Nature,2015

2. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing;ACMG Board of Directors;Genet Med,2015

3. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013

4. Actionable exomic incidental findings in 6503 participants: challenges of variant classification;Amendola;Genome Res,2015

5. Incidental findings in clinical genomics: a clarification;American College of Medical Genetics and Genomics;Genet Med,2013

Cited by 5 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. Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases;Frontiers in Oncology;2022-02-16

2. Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network;Journal of Medical Genetics;2020-03-13

3. Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project;The American Journal of Human Genetics;2019-07

4. Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics;Human Mutation;2017-08-31

5. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies;Human Genetics;2017-03-27

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3