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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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ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Genetics in medicine, 2013-07, Vol.15 (7), p.575-586

2013

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Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

The Journal of pediatrics, 2016-03, Vol.170, p.234-239

2016

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Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-12, Vol.20 (12), p.1489-1498

2018

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Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

Human molecular genetics, 2017-02, Vol.26 (4), p.702-716

2017

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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Annals of neurology, 2015-10, Vol.78 (4), p.606-618

2015

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An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.600-605

2022

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Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1097-1101

2017

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Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines

Genetics in medicine, 2008-11, Vol.10 (11), p.845-847

2008

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P687: Variant classification discrepancies in the ACADVL gene

Genetics in Medicine Open, 2024, Vol.2, p.101591, Article 101591

2024

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P007: PP4 criteria specifications for proximal urea cycle disorders

Genetics in Medicine Open, 2024, Vol.2, p.100884, Article 100884

2024

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Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.424-437

2019

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Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

Pediatric neurology, 2018-02, Vol.79, p.e1-e1

2018

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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series

Cerebellum (London, England), 2016-10, Vol.15 (5), p.623-631

2016

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Technical Standards and Guidelines for Huntington Disease Testing

Genetics in medicine, 2004-01, Vol.6 (1), p.61-65

2004

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Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

American journal of human genetics, 2000-12, Vol.67 (6), p.1411-1421

2000

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Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population

Genetics in medicine, 2008-01, Vol.10 (1), p.57-72

2008

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Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

Journal of child neurology, 2010-08, Vol.25 (8), p.954-960

2010

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Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1463-1467

2009

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Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-05, Vol.23 (5), p.799-812

2021

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Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.237-240

2014

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Abstract 12946: Identification of a LMNA Synonymous Variant Associated With Severe Dilated Cardiomyopathy

Circulation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1)

2021

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Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

Genetics in medicine, 2005-07, Vol.7 (6), p.444-453

2005

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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

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation

Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines

P687: Variant classification discrepancies in the ACADVL gene

P007: PP4 criteria specifications for proximal urea cycle disorders

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Technical Standards and Guidelines for Huntington Disease Testing

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population

Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

Abstract 12946: Identification of a LMNA Synonymous Variant Associated With Severe Dilated Cardiomyopathy

Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

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