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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-02, Vol.25 (2), p.100336-100336, Article 100336

2023

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Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing

Clinical chemistry (Baltimore, Md.), 2024-06, Vol.70 (6), p.783-785

2024

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Guiding the global evolution of cytogenetic testing for hematologic malignancies

Blood, 2022-04, Vol.139 (15), p.2273-2284

2022

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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-08, Vol.25 (8), p.100874-100874, Article 100874

2023

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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

American journal of human genetics, 2019-01, Vol.104 (1), p.35-44

2019

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Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine: A Report of the Association for Molecular Pathology Training and Education Committee

The Journal of molecular diagnostics : JMD, 2022-05, Vol.24 (5), p.430-441

2022

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Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Genes chromosomes & cancer, 2022-12, Vol.61 (12), p.710-719

2022

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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Genetics in medicine, 2022-05, Vol.24 (5), p.986-998

2022

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Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-10, Vol.23 (10), p.1818-1829

2021

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Recommendations for future extensions to the HGNC gene fusion nomenclature

Leukemia, 2021-12, Vol.35 (12), p.3611-3612

2021

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Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL

Leukemia & lymphoma, 2022-07, Vol.63 (9), p.2243-2246

2022

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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Genetics in medicine, 2022-09, Vol.24 (9), p.1991-1991

2022

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Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia

Cancer genetics, 2020-05, Vol.243, p.52-72

2020

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In vitro expansion of cirrhosis derived liver epithelial cells with defined small molecules

Stem cell research, 2021-10, Vol.56, p.102523-102523, Article 102523

2021

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A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition

Neuro-oncology advances, 2024-01, Vol.6 (1), p.vdad163-vdad163

2024

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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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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

American journal of human genetics, 2018-06, Vol.102 (6), p.1078-1089

2018

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Exploring current challenges in the technologist workforce of clinical genomics laboratories

Genetics in Medicine Open, 2023, Vol.1 (1), p.100806, Article 100806

2023

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Implementation of cancer next-generation sequencing testing in a community hospital

Cold Spring Harbor molecular case studies, 2019-06, Vol.5 (3), p.a003707

2019

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NGS for cancer testing: A clinical laboratory’s perspective

Journal of clinical oncology, 2018-05, Vol.36 (15_suppl), p.e24158-e24158

Akkari, Yassmine

2018

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Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Archives of pathology & laboratory medicine (1976), 2021-02, Vol.145 (2), p.176-190

2021

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Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Molecular genetics & genomic medicine, 2024-03, Vol.12 (3), p.e2349-n/a

2024

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P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

Genetics in Medicine Open, 2023, Vol.1 (1), p.100719, Article 100719

2023

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O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes

Genetics in Medicine Open, 2023, Vol.1 (1), p.100057, Article 100057

2023

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P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

Genetics in Medicine Open, 2023, Vol.1 (1), p.100089, Article 100089

2023

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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing

Guiding the global evolution of cytogenetic testing for hematologic malignancies

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine: A Report of the Association for Molecular Pathology Training and Education Committee

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Recommendations for future extensions to the HGNC gene fusion nomenclature

Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia

In vitro expansion of cirrhosis derived liver epithelial cells with defined small molecules

A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition

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

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Exploring current challenges in the technologist workforce of clinical genomics laboratories

Implementation of cancer next-generation sequencing testing in a community hospital

NGS for cancer testing: A clinical laboratory’s perspective

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes

P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

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