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Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma

Leukemia, 2015-10, Vol.29 (10), p.2113-2116

2015

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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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Duplication 5q and Deletion 9p due to a t(5;9)(q34;p23) in 2 Cousins with Features of Hunter-McAlpine Syndrome and Hypothyroidism

Cytogenetic and genome research, 2011-02, Vol.132 (4), p.233-238

2011

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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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Copy number variations and loss of heterozygosity identified in myelodysplastic syndrome

Cancer genetics, 2011-08, Vol.204 (8), p.471-471

2011

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Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

Genetics in medicine, 2008-08, Vol.10 (8), p.599-611

2008

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Trinucleotide repeats affect DNA replication in vivo

Nature genetics, 1997-11, Vol.17 (3), p.298-304

1997

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Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

Genetics in medicine, 2011-05, Vol.13 (5), p.437-442

2011

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ID: 26: EXPLORING THE LONGITUDINAL TRANSCRIPTOMIC LANDSCAPE OF TYROSINE KINASE INHIBITOR TREATMENT RESPONSE IN CHRONIC MYELOID LEUKEMIA PATIENTS

Journal of investigative medicine, 2016-04, Vol.64 (4), p.935

2016

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Exploring the Longitudinal Transcriptomic Landscape of Tyrosine Kinase Inhibitor Treatment Response in Chronic Myeloid Leukemia Patients

Journal of investigative medicine, 2016-03, Vol.64 (4), p.935-936

2016

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The Virtual Molecular Tumor Board of the Variant Interpretation for Cancer Consortium: A systematic gateway connecting cancer genome interpretation and progress in genomic knowledgebases in cancer

CANCER RESEARCH, 2020, Vol.80 (16)

2020

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NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory

Genetics in medicine, 2005-10, Vol.7 (8), p.524-533

2005

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Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation

Nucleic acids research, 2000-10, Vol.28 (20), p.3943

2000

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138. Studies of molecular mechanisms regulating reelin gene expression

Biological psychiatry (1969), 2000-04, Vol.47 (8), p.S41-S42

2000

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Progressive dystonia in a 12-year-old boy

European journal of paediatric neurology, 2003-01, Vol.7 (2), p.85-88

2003

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Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR

Genetic testing, 2004-12, Vol.8 (4), p.387-394

2004

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OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies

The Journal of molecular diagnostics : JMD, 2018-11, Vol.20 (6), p.765-776

2018

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The genomic landscape of hypodiploid acute lymphoblastic leukemia

Nature genetics, 2013-03, Vol.45 (3), p.242-252

2013

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Myeloid lineage switch following chimeric antigen receptor T‐cell therapy in a patient with TCF3‐ZNF384 fusion‐positive B‐lymphoblastic leukemia

Pediatric blood & cancer, 2018-09, Vol.65 (9), p.e27265-n/a

2018

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Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis

The Journal of molecular diagnostics : JMD, 2024-05, Vol.26 (5), p.337-348

2024

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1357-1372

2023

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92. The ClinGen Somatic CDWG supports somatic variant curation and interpretation through structured guidance and procedures

Cancer genetics, 2023-11, Vol.278-279, p.28-29

2023

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Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma

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)

Duplication 5q and Deletion 9p due to a t(5;9)(q34;p23) in 2 Cousins with Features of Hunter-McAlpine Syndrome and Hypothyroidism

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

Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study

Copy number variations and loss of heterozygosity identified in myelodysplastic syndrome

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

Trinucleotide repeats affect DNA replication in vivo

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

ID: 26: EXPLORING THE LONGITUDINAL TRANSCRIPTOMIC LANDSCAPE OF TYROSINE KINASE INHIBITOR TREATMENT RESPONSE IN CHRONIC MYELOID LEUKEMIA PATIENTS

Exploring the Longitudinal Transcriptomic Landscape of Tyrosine Kinase Inhibitor Treatment Response in Chronic Myeloid Leukemia Patients

The Virtual Molecular Tumor Board of the Variant Interpretation for Cancer Consortium: A systematic gateway connecting cancer genome interpretation and progress in genomic knowledgebases in cancer

NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory

Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation

138. Studies of molecular mechanisms regulating reelin gene expression

Progressive dystonia in a 12-year-old boy

Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies

The genomic landscape of hypodiploid acute lymphoblastic leukemia

Myeloid lineage switch following chimeric antigen receptor T‐cell therapy in a patient with TCF3‐ZNF384 fusion‐positive B‐lymphoblastic leukemia

Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

92. The ClinGen Somatic CDWG supports somatic variant curation and interpretation through structured guidance and procedures

16. ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels

52. ClinGen Pediatric Cancer Taskforce initiatives to advance pediatric clinical interpretations through expert curation

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