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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

Genetics in medicine, 2015-05, Vol.17 (5), p.405-424

2015

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Where to Draw the Boundaries for Prenatal Carrier Screening

JAMA : the journal of the American Medical Association, 2016-08, Vol.316 (7), p.717

Grody, Wayne W

2016

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The transformation of medical genetics by clinical genomics: hubris meets humility

Genetics in medicine, 2019-09, Vol.21 (9), p.1916-1926

Grody, Wayne W.

2019

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Clinical exome sequencing for genetic identification of rare Mendelian disorders

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1880

2014

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

Genetics in medicine, 2013-07, Vol.15 (7), p.565-574

2013

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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

JAMA neurology, 2014-10, Vol.71 (10), p.1237

2014

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The Gregor Mendel Bicentennial Tribute-Enduring Mementos of the Founder of Genetics

JAMA : the journal of the American Medical Association, 2023-07, Vol.330 (4), p.297

2023

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DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

Genetics in medicine, 2011-11, Vol.13 (11), p.913-920

2011

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Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophy

PloS one, 2010-05, Vol.5 (5), p.e10763

2010

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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

Genetics in medicine, 2012-03, Vol.14 (3), p.296-305

2012

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College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

Archives of pathology & laboratory medicine (1976), 2015-04, Vol.139 (4), p.481-493

2015

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Synonymous Variants of Uncertain Silence

International journal of molecular sciences, 2023-06, Vol.24 (13), p.10556

2023

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Genetics in medicine, 2008-04, Vol.10 (4), p.294-300

2008

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ACMG position statement on prenatal/preconception expanded carrier screening

Genetics in medicine, 2013-06, Vol.15 (6), p.482-483

2013

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High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects

International journal of molecular sciences, 2024-05, Vol.25 (10), p.5469

2024

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Prenatal Carrier Screening-Reply

JAMA : the journal of the American Medical Association, 2016-12, Vol.316 (24), p.2676

Grody, Wayne W

2016

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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.498-506

2015

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S2464 Misnomer Leading to Delayed Diagnosis of an Autoinflammatory Syndrome in a Latino Male

The American journal of gastroenterology, 2022-10, Vol.117 (10S), p.e1643-e1644

2022

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CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-08, Vol.22 (8), p.1288-1295

2020

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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

Genetics in medicine, 2014-07, Vol.16 (7), p.510-515

2014

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Memories of Gene Herbek, MD

Archives of pathology & laboratory medicine (1976), 2021-03, Vol.145 (3), p.262-263

2021

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International perspectives on the implementation of reproductive carrier screening

Prenatal diagnosis, 2020-02, Vol.40 (3), p.301-310

2020

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Keeping Up With the Next Generation: Massively Parallel Sequencing in Clinical Diagnostics

The Journal of molecular diagnostics : JMD, 2008-11, Vol.10 (6), p.484-492

2008

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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

Where to Draw the Boundaries for Prenatal Carrier Screening

The transformation of medical genetics by clinical genomics: hubris meets humility

Clinical exome sequencing for genetic identification of rare Mendelian disorders

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

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

The Gregor Mendel Bicentennial Tribute-Enduring Mementos of the Founder of Genetics

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophy

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

Synonymous Variants of Uncertain Silence

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

ACMG position statement on prenatal/preconception expanded carrier screening

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects

Prenatal Carrier Screening-Reply

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

S2464 Misnomer Leading to Delayed Diagnosis of an Autoinflammatory Syndrome in a Latino Male

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Memories of Gene Herbek, MD

International perspectives on the implementation of reproductive carrier screening

Keeping Up With the Next Generation: Massively Parallel Sequencing in Clinical Diagnostics

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