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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in medicine, 2020-02, Vol.22 (2), p.245-257

2020

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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Genetics in medicine, 2013-11, Vol.15 (11), p.901-909

2013

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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Genetics in medicine, 2011-07, Vol.13 (7), p.680-685

2011

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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037

2021

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Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2019-06, Vol.21 (6), p.1267-1270

2019

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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Genome medicine, 2020-05, Vol.12 (1), p.48-48, Article 48

2020

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P815: Prenatal diagnosis of tetrasomy 21: Case reports

Genetics in Medicine Open, 2024, Vol.2, p.101723

2024

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Best practices for the interpretation and reporting of clinical whole genome sequencing

Npj genomic medicine, 2022-04, Vol.7 (1), p.27-27, Article 27

2022

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Copy number variant analysis using genome‐wide mate‐pair sequencing

Genes chromosomes & cancer, 2018-09, Vol.57 (9), p.459-470

2018

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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in medicine, 2021-11, Vol.23 (11), p.2230-2230

2021

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Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated

Prenatal diagnosis, 2020-06, Vol.40 (7), p.831-837

2020

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P473: Potential clinical significance of microdeletions involving both MYH6 and MYH7

Genetics in Medicine Open, 2023, Vol.1 (1), p.100520, Article 100520

2023

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P707: Additional evidence supporting and expanding the phenotype associated with MED12L loss-of-function variants

Genetics in Medicine Open, 2024, Vol.2, p.101611

2024

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Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism

Molecular syndromology, 2020-01, Vol.10 (6), p.327-331

2020

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Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Npj genomic medicine, 2020-10, Vol.5 (1), p.47-47, Article 47

2020

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2017-08, Vol.19 (8), p.845-850

2017

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Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

Human mutation, 2019-11, Vol.40 (11), p.2108-2120

2019

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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Genetics in medicine, 2013-02, Vol.15 (2), p.150-152

2013

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SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)

Cancer genetics, 2018-02, Vol.221, p.1-18

2018

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American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

Genetics in medicine, 2011-07, Vol.13 (7), p.676-679

2011

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The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms

American journal of clinical pathology, 2018-10, Vol.150 (5), p.375-384

2018

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Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Genetics in medicine, 2020-12, Vol.22 (12), p.2120-2124

2020

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Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

European journal of haematology, 2019-01, Vol.102 (1), p.87-96

2019

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Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders

The Journal of molecular diagnostics : JMD, 2023-07, Vol.25 (7), p.524-531

2023

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Alström syndrome caused by maternal uniparental disomy

American journal of ophthalmology case reports, 2023-03, Vol.29, p.101745, Article 101745

2023

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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

P815: Prenatal diagnosis of tetrasomy 21: Case reports

Best practices for the interpretation and reporting of clinical whole genome sequencing

Copy number variant analysis using genome‐wide mate‐pair sequencing

Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated

P473: Potential clinical significance of microdeletions involving both MYH6 and MYH7

P707: Additional evidence supporting and expanding the phenotype associated with MED12L loss-of-function variants

Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms

Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders

Alström syndrome caused by maternal uniparental disomy

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