Sharon E Plon

发表

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Robert Huether, Rachid Karam, Charis Eng, 2018, Human mutation.

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Rohini Rau-Murthy, Jinghui Zhang, Kenneth Offit, 2013, Nature Genetics.

ClinGen--the Clinical Genome Resource.

Heidi L Rehm, Jonathan S Berg, Stephen T Sherry, 2015, The New England journal of medicine.

Returning genetic research results: study type matters.

Amy L McGuire, A. McGuire, S. Plon, 2013, Personalized medicine.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Birgit Funke, William Craigen, Heidi L Rehm, 2018, Human mutation.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

Chad A Shaw, Eric Boerwinkle, Fan Xia, 2015, Genetics in Medicine.

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

Marek Kimmel, David A Wheeler, D. Wheeler, 2011, Human mutation.

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Yanming Feng, Victor Wei Zhang, Lee-Jun C Wong, 2015, The Journal of molecular diagnostics : JMD.

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Heidi L Rehm, Leslie G Biesecker, H. Rehm, 2018, Human mutation.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Tao Wang, Katie Bergstrom, Amy L McGuire, 2016, JAMA oncology.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Carla Oliveira, Rachid Karam, Chimene Kesserwan, 2018, Human mutation.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Gunnar Rätsch, Brian Craft, David Haussler, 2018, PLoS genetics.

ClinGen Allele Registry links information about genetic variants

Aleksandar Milosavljevic, Piotr Pawliczek, Chris Bizon, 2018, Human mutation.

The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics

Vence L Bonham, Stephanie M Fullerton, Lucia A Hindorff, 2018, bioRxiv.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives

Tao Wang, P Adam Kelly, P. A. Kelly, 2011, Genetics in Medicine.

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

S. Plon, F. Scaglia, Brendan H. Lee, 2011, American journal of human genetics.