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Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

PloS one, 2015-09, Vol.10 (9), p.e0133813-e0133813

2015

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P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing

Genetics in Medicine Open, 2024, Vol.2, p.100949, Article 100949

2024

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Aggregation of multiple sclerosis genetic risk variants in multiple and single case families

Annals of neurology, 2011-01, Vol.69 (1), p.65-74

2011

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Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

Frontiers in immunology, 2022-06, Vol.13, p.906540-906540

2022

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Cluster randomised trial of a school-community child health promotion and obesity prevention intervention: findings from the evaluation of fun 'n healthy in Moreland

BMC public health, 2017-08, Vol.18 (1), p.92-92, Article 92

2017

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P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories

Genetics in Medicine Open, 2024, Vol.2, p.101589, Article 101589

2024

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Frontiers in neurology, 2021-05, Vol.12, p.663911-663911

2021

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P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories

Genetics in Medicine Open, 2024, Vol.2, p.100953, Article 100953

2024

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P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

Genetics in Medicine Open, 2024, Vol.2, p.100955, Article 100955

2024

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O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Genetics in Medicine Open, 2024, Vol.2, p.101472, Article 101472

2024

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Expanding Children’s Food Experiences: The Impact of a School-Based Kitchen Garden Program

Journal of nutrition education and behavior, 2013-03, Vol.45 (2), p.137-146

2013

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STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection

Respiratory medicine case reports, 2020-01, Vol.30, p.101125, Article 101125

2020

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Operation-related Musculoskeletal Injuries among United States Surgeons: A Gender-stratified National Survey

Plastic and reconstructive surgery. Global open, 2022-02, Vol.10 (2), p.e4142-e4142

2022

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P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100305, Article 100305

2023

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P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

Genetics in Medicine Open, 2024, Vol.2, p.101061, Article 101061

2024

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P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100272, Article 100272

2023

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P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

Genetics in Medicine Open, 2023, Vol.1 (1), p.100537, Article 100537

2023

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Chronic placental ischemia alters amniotic fluid milieu and results in impaired glucose tolerance, insulin resistance and hyperleptinemia in young rats

Experimental biology and medicine (Maywood, N.J.), 2010-07, Vol.235 (7), p.892-899

2010

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A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Investigative ophthalmology & visual science, 2015-06, Vol.56 (6), p.3776-3787

2015

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Tyrosinase is the modifier of retinoschisis in mice

Genetics (Austin), 2010-12, Vol.186 (4), p.1337-1344

2010

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Scalable detection of technically challenging variants through modified next‐generation sequencing

Molecular genetics & genomic medicine, 2022-12, Vol.10 (12), p.e2072-n/a

2022

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THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107433, Article 107433

2023

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Diagnosis of Lysosomal Storage Disorders: Gaucher Disease

Current Protocols in Human Genetics, 2014-07, Vol.82 (1), p.17.15.1-17.15.6

2014

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Sequencing of the IL6 gene in a case-control study of cerebral palsy in children

BMC medical genetics, 2013-12, Vol.14 (1), p.126-126, Article 126

2013

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Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing

Aggregation of multiple sclerosis genetic risk variants in multiple and single case families

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

Cluster randomised trial of a school-community child health promotion and obesity prevention intervention: findings from the evaluation of fun 'n healthy in Moreland

P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories

P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Expanding Children’s Food Experiences: The Impact of a School-Based Kitchen Garden Program

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection

Operation-related Musculoskeletal Injuries among United States Surgeons: A Gender-stratified National Survey

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

Chronic placental ischemia alters amniotic fluid milieu and results in impaired glucose tolerance, insulin resistance and hyperleptinemia in young rats

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Tyrosinase is the modifier of retinoschisis in mice

Scalable detection of technically challenging variants through modified next‐generation sequencing

THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

Diagnosis of Lysosomal Storage Disorders: Gaucher Disease

Sequencing of the IL6 gene in a case-control study of cerebral palsy in children

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