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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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Integrated analysis of multimodal single-cell data

Cell, 2021-06, Vol.184 (13), p.3573-3587.e29

2021

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Genomic Analyses Identify Recurrent Alterations in Immune Evasion Genes in Diffuse Large B-Cell Lymphoma, Leg Type

Journal of investigative dermatology, 2018-11, Vol.138 (11), p.2365-2376

2018

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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Human mutation, 2022-08, Vol.43 (8), p.1031-1040

2022

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Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2022-02, Vol.24 (2), p.255-261

2022

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Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease

American journal of clinical pathology, 2021-10, Vol.156 (4), p.715-716

2021

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Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity

Modern pathology, 2017-09, Vol.30 (9), p.1234-1240

2017

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OMIP‐056: Evaluation of Human Conventional T Cells, Donor‐Unrestricted T Cells, and NK Cells Including Memory Phenotype by Intracellular Cytokine Staining

Cytometry. Part A, 2019-07, Vol.95 (7), p.722-725

2019

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CXCR3 enables recruitment and site-specific bystander activation of memory CD8 + T cells

Nature communications, 2019-11, Vol.10 (1), p.4987-15, Article 4987

2019

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Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology

Modern pathology, 2017-09, Vol.30 (9), p.1321-1334

2017

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Response to Spurdle et al

Genetics in medicine, 2023-08, Vol.25 (8), p.100869-100869, Article 100869

2023

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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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Subunit Contributions to Histone Methyltransferase Activities of Fly and Worm Polycomb Group Complexes

Molecular and Cellular Biology, 2005-08, Vol.25 (16), p.6857-6868

2005

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Corrigendum: OMIP‐056: Evaluation of Human Conventional T Cells, Donor‐Unrestricted T Cells, and NK Cells Including Memory Phenotype by Intracellular Cytokine Staining

Cytometry. Part A, 2020-02, Vol.97 (2), p.199-201

2020

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Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

Genes chromosomes & cancer, 2019-08, Vol.58 (8), p.551-557

2019

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Centrosome movements in vivo correlate with specific neurite formation downstream of LIM homeodomain transcription factor activity

Development (Cambridge), 2012-10, Vol.139 (19), p.3590-3599

2012

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Elements of the Polycomb Repressor SU(Z)12 Needed for Histone H3-K27 Methylation, the Interface with E(Z), and In Vivo Function

Molecular and Cellular Biology, 2013-12, Vol.33 (24), p.4844-4856

2013

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P602: Impact of NIPS outside of scope reporting on fetal and maternal cytogenetic testing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100658, Article 100658

2023

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P548: Partial duplications of haploinsufficient genes: Always a VUS?

Genetics in Medicine Open, 2023, Vol.1 (1), p.100595, Article 100595

2023

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P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101485, Article 101485

2024

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A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Cytogenetic and genome research, 2019, Vol.159 (1), p.19-25

2019

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Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Human mutation, 2020-07, Vol.41 (7), p.1238-1249

2020

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Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors

European journal of medical genetics, 2019-01, Vol.62 (1), p.9-14

2019

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Response to Maya et al

Genetics in medicine, 2020-07, Vol.22 (7), p.1278-1279

2020

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Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1795-1801

2014

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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)

Integrated analysis of multimodal single-cell data

Genomic Analyses Identify Recurrent Alterations in Immune Evasion Genes in Diffuse Large B-Cell Lymphoma, Leg Type

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease

Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity

OMIP‐056: Evaluation of Human Conventional T Cells, Donor‐Unrestricted T Cells, and NK Cells Including Memory Phenotype by Intracellular Cytokine Staining

CXCR3 enables recruitment and site-specific bystander activation of memory CD8 + T cells

Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology

Response to Spurdle et al

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)

Subunit Contributions to Histone Methyltransferase Activities of Fly and Worm Polycomb Group Complexes

Corrigendum: OMIP‐056: Evaluation of Human Conventional T Cells, Donor‐Unrestricted T Cells, and NK Cells Including Memory Phenotype by Intracellular Cytokine Staining

Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

Centrosome movements in vivo correlate with specific neurite formation downstream of LIM homeodomain transcription factor activity

Elements of the Polycomb Repressor SU(Z)12 Needed for Histone H3-K27 Methylation, the Interface with E(Z), and In Vivo Function

P602: Impact of NIPS outside of scope reporting on fetal and maternal cytogenetic testing

P548: Partial duplications of haploinsufficient genes: Always a VUS?

P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors

Response to Maya et al

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

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