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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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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-07, Vol.22 (7), p.1133-1141

2020

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Response to Mounts and Besser

Genetics in medicine, 2021, Vol.23 (1), p.240-242

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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Increased Incidence of IKZF1 deletions and IGH-CRLF2 translocations in B-ALL of Hispanic/Latino children—a novel health disparity

Leukemia, 2021-08, Vol.35 (8), p.2399-2402

2021

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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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Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review

International journal of surgical pathology, 2022-04, Vol.30 (2), p.172-176

2022

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Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells

International journal of surgical pathology, 2022-05, Vol.30 (3), p.307-312

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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Response to Maya et al

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

2020

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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies

Blood advances, 2018-01, Vol.2 (2), p.146-150

2018

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Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards

Human mutation, 2018-11, Vol.39 (11), p.1721-1732

2018

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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Cold Spring Harbor molecular case studies, 2019-04, Vol.5 (2), p.a003756

2019

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Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

Genetics in medicine, 2012-11, Vol.14 (11), p.928-936

2012

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Standard operating procedure for curation and clinical interpretation of variants in cancer

Genome medicine, 2019-11, Vol.11 (1), p.76-76, Article 76

2019

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Analytic Validation of Optical Genome Mapping in Hematological Malignancies

Biomedicines, 2023-12, Vol.11 (12), p.3263

2023

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P079: ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer

Genetics in Medicine Open, 2023, Vol.1 (1), p.100098, Article 100098

2023

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RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia

Case reports in hematology, 2015-01, Vol.2015 (2015), p.1-6

2015

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MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site

Case reports in pathology, 2015-01, Vol.2015 (2015), p.1-4

2015

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Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder

European journal of medical genetics, 2021-01, Vol.64 (1), p.104121-104121, Article 104121

2021

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DNA methylation assay for X-chromosome inactivation in female human iPS cells

Stem cell reviews, 2011-11, Vol.7 (4), p.969-975

2011

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Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories

Cancers, 2023-11, Vol.15 (22), p.5470

2023

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eP109 - SETD1B mutation identified in 15-year-old male with neurodevelopmental issues including: intractable seizure disorder, intellectual impairment, and autistic features

Molecular genetics and metabolism, 2021-04, Vol.132, p.S75-S75

2021

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SETD1B mutation identified in 15-year-old male with neurodevelopmental issues including: intractable seizure disorder, intellectual impairment, and autistic features

Molecular genetics and metabolism, 2021-04, Vol.132, p.S75

2021

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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)

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Response to Mounts and Besser

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

Recommendations for future extensions to the HGNC gene fusion nomenclature

Increased Incidence of IKZF1 deletions and IGH-CRLF2 translocations in B-ALL of Hispanic/Latino children—a novel health disparity

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)

Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review

Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells

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)

Response to Maya et al

Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

Standard operating procedure for curation and clinical interpretation of variants in cancer

Analytic Validation of Optical Genome Mapping in Hematological Malignancies

P079: ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer

RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia

MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site

Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder

DNA methylation assay for X-chromosome inactivation in female human iPS cells

Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories

eP109 - SETD1B mutation identified in 15-year-old male with neurodevelopmental issues including: intractable seizure disorder, intellectual impairment, and autistic features

SETD1B mutation identified in 15-year-old male with neurodevelopmental issues including: intractable seizure disorder, intellectual impairment, and autistic features

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