ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2021) David T. Miller et al.   GENETICS IN MEDICINE

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2021) Marc Tischkowitz et al.   GENETICS IN MEDICINE

A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies

(2020) Job A.J. Verdonschot et al.   HUMAN MUTATION

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

(2019) Flavie Ader et al.   CLINICAL GENETICS

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

(2019) Hana Zouk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy

(2019) Kristin L. Gardiner et al.   MOLECULAR THERAPY

A Call for Clear and Consistent Communications Regarding the Role of Pharmacogenetics in Antidepressant Pharmacotherapy

(2019) J. Kevin Hicks et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

(2019) Xin Yang et al.   JOURNAL OF CLINICAL ONCOLOGY

Results at 5 Years after Gene Therapy for RPE65-deficient Retinal Dystrophy

(2018) Mark E Pennesi et al.   HUMAN GENE THERAPY

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2018) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

(2018) Pascal Pujol et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes

(2018) Stephen G. Gonsalves et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Foundation of the Newborn Screening Translational Research Network and its tools for research

(2018) Michele Lloyd-Puryear et al.   GENETICS IN MEDICINE

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

(2018) Veronique Vorselaars et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

(2017) Scott D Grosse et al.   GENETICS IN MEDICINE

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

(2017) Birke Bausch et al.   JAMA Oncology

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

(2015) Dominique P Germain et al.   JOURNAL OF MEDICAL GENETICS

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

(2013) Whitney L. Wooderchak-Donahue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying anACVRL1(ALK1) Mutation

(2010) Barbara Girerd et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM