Search Results

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

• Authors : Seifert BA; Reddi HV ...

Subjects: Myotonic Dystrophy*/Myotonic Dystrophy*/Myotonic Dystrophy*/genetics ; Myotonic Dystrophy*/Myotonic Dystrophy*/Myotonic Dystrophy*/diagnosis ; Myotonin-Protein Kinase*/Myotonin-Protein Kinase*/Myotonin-Protein Kinase*/genetics

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

• Authors : Guha S; Reddi HV ...

Subjects: Genetic Carrier Screening*/Genetic Carrier Screening*/Genetic Carrier Screening*/methods ; Genetic Carrier Screening*/Genetic Carrier Screening*/Genetic Carrier Screening*/standards ; Genomics*/Genomics*/Genomics*/methods

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

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

• Authors : Spector E; ACMG Laboratory Quality Assurance Committee

Subjects: Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/diagnosis ; Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/genetics ; Genetics, Medical*

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

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

• Authors : Deignan JL; Astbury C ...

Subjects: Cystic Fibrosis Transmembrane Conductance Regulator*/Cystic Fibrosis Transmembrane Conductance Regulator*/Cystic Fibrosis Transmembrane Conductance Regulator*/genetics ; Genetics, Medical*; Genetic Testing/Genetic Testing/Genetic Testing/*standards

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

• Authors : Deignan JL; Chao E ...

Subjects: Genetic Testing* ; Genetics, Medical*; Genome, Human

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

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

• Authors : Bean LJH; ACMG Laboratory Quality Assurance Committee

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*standards ; Genetics, Medical/Genetics, Medical/Genetics, Medical/*standards ; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*standards

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

• Authors : Morales A; Kinnamon DD ...

Subjects: Genetic Variation* ; Genetics, Medical* ; Precision Medicine*

• Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2020 Apr; Vol. 13 (2), pp. e002480. Date of Electronic Publication: 2020 Mar 11.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium:

Record details

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

• Authors : ACMG Board of Directors

Subjects: Organizational Policy*; Genetic Testing/Genetic Testing/Genetic Testing/*standards ; Genetics, Medical/Genetics, Medical/Genetics, Medical/*standards

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

• Authors : David KL; Best RG ...

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*standards ; Genetics, Medical/Genetics, Medical/Genetics, Medical/*standards ; Genome, Human/Genome, Human/Genome, Human/*genetics

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Education Full Text (H.W. Wilson)

Record details