A curated gene list for reporting results of newborn genomic sequencing

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

(2015) Jeffrey R. Botkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

(2014) Heather M McLaughlin et al.   BMC Medical Genetics

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

(2012) Rajesh V. Thakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary

(2011) et al.   CIRCULATION

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Factor V Leiden mutation and pregnancy-related complications

(2010) Ulla Kjellberg et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

(2010) M. J. Oliva-Sandoval et al.   HEART

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

(2009) V. Oji et al.   BRITISH JOURNAL OF DERMATOLOGY

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

(2009) Iacopo Olivotto et al.   MAYO CLINIC PROCEEDINGS

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

(2008) Toshifumi Nomura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

(2008) Hiroyuki Morita et al.   NEW ENGLAND JOURNAL OF MEDICINE