4.5 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cell Biology

Loss of E-Cadherin-Dependent Cell-Cell Adhesion and the Development and Progression of Cancer

Heather C. Bruner et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2018)

Article Genetics & Heredity

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Bruce D. Gelb et al.

GENETICS IN MEDICINE (2018)

Letter Genetics & Heredity

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Leslie G. Biesecker et al.

GENETICS IN MEDICINE (2018)

Review Genetics & Heredity

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

Giovanni Corso et al.

JOURNAL OF MEDICAL GENETICS (2018)

Article Oncology

A central role for cadherin signaling in cancer

Antonis Kourtidis et al.

EXPERIMENTAL CELL RESEARCH (2017)

Article Oncology

Evolution and diversity of cadherins and catenins

Ismail Sahin Gul et al.

EXPERIMENTAL CELL RESEARCH (2017)

Article Genetics & Heredity

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison et al.

GENETICS IN MEDICINE (2017)

Article Genetics & Heredity

Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin et al.

GENETICS IN MEDICINE (2017)

Review Gastroenterology & Hepatology

Historical Perspective on Familial Gastric Cancer

C. Richard Boland et al.

CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY (2017)

Article Genetics & Heredity

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Kathryn B. Garber et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Review Genetics & Heredity

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

Rachel S. van der Post et al.

JOURNAL OF MEDICAL GENETICS (2015)

Letter Medicine, General & Internal

ClinGen and Genetic Testing

Rachid Karam et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Medicine, General & Internal

ClinGen - The Clinical Genome Resource

Heidi L. Rehm et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Multidisciplinary Sciences

Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas et al.

SCIENCE (2015)

Article Oncology

Hereditary Diffuse Gastric Cancer Syndrome CDH1 Mutations and Beyond

Samantha Hansford et al.

JAMA ONCOLOGY (2015)

Article Gastroenterology & Hepatology

Hereditary diffuse gastric cancer - Pathophysiology and clinical management

Hugo Pinheiro et al.

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY (2014)

Article Biochemistry & Molecular Biology

The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC

Joana Figueiredo et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Editorial Material Biochemistry & Molecular Biology

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)

Carla Oliveira et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Review Oncology

Gastric cancer epidemiology and risk factors

Douglas E. Guggenheim et al.

JOURNAL OF SURGICAL ONCOLOGY (2013)

Article Genetics & Heredity

De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer

M. A. Shah et al.

CLINICAL GENETICS (2012)

Article Gastroenterology & Hepatology

Hereditary gastric cancer

Carla Oliveira et al.

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY (2009)

Article Biochemistry & Molecular Biology

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer

Joana Simoes-Correia et al.

HUMAN MOLECULAR GENETICS (2008)

Article Medicine, General & Internal

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

Pardeep Kaurah et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2007)

Article Genetics & Heredity

A model to infer the pathogenic significance of CDH1 germline missense variants

Gianpaolo Suriano et al.

JOURNAL OF MOLECULAR MEDICINE-JMM (2006)

Article Genetics & Heredity

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

T Frebourg et al.

JOURNAL OF MEDICAL GENETICS (2006)

Review Medicine, General & Internal

Epidemiology of gastric cancer in Japan

M Inoue et al.

POSTGRADUATE MEDICAL JOURNAL (2005)

Review Genetics & Heredity

Nonsense-mediated decay approaches the clinic

JA Holbrook et al.

NATURE GENETICS (2004)

Article Gastroenterology & Hepatology

Clinical implications of E-cadherin associated hereditary diffuse gastric cancer

RC Fitzgerald et al.

Article Medicine, General & Internal

Trends in incidence rates of invasive lobular and ductal breast carcinoma

CI Li et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2003)