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Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-03, Vol.22 (3), p.453-461

2020

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Annals of neurology, 2015-02, Vol.77 (2), p.206-214

2015

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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-08, Vol.23 (8), p.1399-1415

2021

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An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

American journal of human genetics, 2012-10, Vol.91 (4), p.646-659

2012

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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

American journal of human genetics, 2016-11, Vol.99 (5), p.1140-1149

2016

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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Human mutation, 2016-06, Vol.37 (6), p.559-563

2016

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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Genetics in medicine, 2020-02, Vol.22 (2), p.336-344

2020

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Regulating whole exome sequencing as a diagnostic test

Human Genetics, 2016-06, Vol.135 (6), p.655-673

2016

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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome medicine, 2017-12, Vol.9 (1), p.111-111, Article 111

2017

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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-06, Vol.23 (6), p.979-988

2021

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Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data

Archives of pathology & laboratory medicine (1976), 2022-04, Vol.146 (4), p.451-461

2022

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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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Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

Human mutation, 2013-09, Vol.34 (9), p.1183-1188

2013

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Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21

Human genetics, 2012-07, Vol.131 (7), p.1039-1046

2012

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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Human mutation, 2017-01, Vol.38 (1), p.122-122

2017

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An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction

PloS one, 2014-06, Vol.9 (6), p.e99560

2014

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Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

Ophthalmology (Rochester, Minn.), 2011-03, Vol.118 (3), p.558-563

2011

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Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2024-08, Vol.26 (8), p.101145, Article 101145

2024

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The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project

Genetics in medicine, 2013-09, Vol.15 (9), p.698-705

2013

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Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.78-85

2013

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Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects

Genetics in medicine, 2015-07, Vol.17 (7), p.554-560

2015

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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

Human molecular genetics, 2009-05, Vol.18 (9), p.1624-1632

2009

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Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Human mutation, 2022-08, Vol.43 (8), p.1097-1113

2022

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Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1641-1647

2018

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Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder

European journal of medical genetics, 2017-06, Vol.60 (6), p.312-316

2017

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Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Regulating whole exome sequencing as a diagnostic test

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data

ACMG position statement on prenatal/preconception expanded carrier screening

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction

Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder

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