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Genotype–phenotype associations among panel-based TP53+ subjects

Genetics in medicine, 2019-11, Vol.21 (11), p.2478-2484

2019

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P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel

Genetics in Medicine Open, 2024, Vol.2, p.100984, Article 100984

2024

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O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine Open, 2023, Vol.1 (1), p.100457, Article 100457

2023

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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

American journal of human genetics, 2021-12, Vol.108 (12), p.2248-2258

2021

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Human mutation, 2021-03, Vol.42 (3), p.223-236

2021

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An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy

Human mutation, 2021-10, Vol.42 (10), p.1351-1361

2021

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Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53

Human mutation, 2020-03, Vol.41 (3), p.537-542

2020

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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in medicine, 2024-03, Vol.26 (3), p.101036, Article 101036

2024

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Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity

Genetics in medicine, 2022-03, Vol.24 (3), p.673-680

2022

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Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Human mutation, 2020-09, Vol.41 (9), p.1555-1562

2020

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Genotype–phenotype associations among panel-based TP53+ subjects

Genetics in medicine, 2019-11, Vol.21 (11), p.2478-2484

2019

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Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing

Cancer genetics, 2020-10, Vol.248-249, p.11-17

2020

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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

JAMA network open, 2019-10, Vol.2 (10), p.e1913900-e1913900

2019

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p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients

Cancer genetics, 2019-06, Vol.235-236, p.21-27

2019

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0294 Sleep Quality Ratings Predict Disagreement Between Daily Objective and Subjective Evaluations of Total Sleep Time in Firefighters

Sleep (New York, N.Y.), 2023-05, Vol.46 (Supplement_1), p.A130-A130

2023

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0281 An Assessment of the Agreement Between Sleep Diary and Actigraphy in Firefighters

Sleep (New York, N.Y.), 2023-05, Vol.46 (Supplement_1), p.A125-A125

2023

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Comparing actigraphy and diary to measure daily and average sleep in firefighters: a Bland–Altman analysis

Journal of clinical sleep medicine, 2024-04, Vol.20 (4), p.497-503

2024

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Widespread iron-rich conditions in the mid-Proterozoic ocean

Nature (London), 2011-09, Vol.477 (7365), p.448-451

2011

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Crisis Standard of Care: Management of Infantile Spasms during COVID‐19

Annals of neurology, 2020-08, Vol.88 (2), p.215-217

2020

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Management of Infantile Spasms During the COVID-19 Pandemic

Journal of child neurology, 2020-10, Vol.35 (12), p.828-834

2020

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Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia

Cancer cell, 2015-09, Vol.28 (3), p.343-356

2015

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Medicine in the Sport of Horse Racing

Current sports medicine reports, 2020-09, Vol.19 (9), p.373-379

2020

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The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

Pilot and feasibility studies, 2023-03, Vol.9 (1), p.47-47, Article 47

2023

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Genotype–phenotype associations among panel-based TP53+ subjects

P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel

O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy

Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Genotype–phenotype associations among panel-based TP53+ subjects

Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients

0294 Sleep Quality Ratings Predict Disagreement Between Daily Objective and Subjective Evaluations of Total Sleep Time in Firefighters

0281 An Assessment of the Agreement Between Sleep Diary and Actigraphy in Firefighters

Comparing actigraphy and diary to measure daily and average sleep in firefighters: a Bland–Altman analysis

Widespread iron-rich conditions in the mid-Proterozoic ocean

Crisis Standard of Care: Management of Infantile Spasms during COVID‐19

Management of Infantile Spasms During the COVID-19 Pandemic

Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia

Medicine in the Sport of Horse Racing

The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing

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