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Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

JAMA oncology, 2019-04, Vol.5 (4), p.523

2019

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Organization of the human intestine at single-cell resolution

Nature (London), 2023-07, Vol.619 (7970), p.572-584

2023

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Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-07, Vol.22 (7), p.1142-1148

2020

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Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease

Pharmacogenomics, 2014-11, Vol.15 (14), p.1771-1790

2014

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The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

Frontiers in genetics, 2022-06, Vol.13, p.867226

2022

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

Epilepsia open, 2019-09, Vol.4 (3), p.397-408

2019

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Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2814-2821

2014

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Trans-ethnic variation in germline variants of patients with renal cell carcinoma

Cell reports (Cambridge), 2021-03, Vol.34 (13), p.108926, Article 108926

2021

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Segmentation of human functional tissue units in support of a Human Reference Atlas

Communications biology, 2023-07, Vol.6 (1), p.717-717, Article 717

2023

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Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Genetics in medicine, 2020-12, Vol.22 (12), p.2128-2128

Esplin, Edward D.

2020

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Early Genetic Testing in Pediatric Epilepsy: Diagnostic and Cost Implications

Epilepsia open, 2024-02, Vol.9 (1), p.439-444

2024

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Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer

Nature genetics, 2022-07, Vol.54 (7), p.985-995

2022

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

JAMA cardiology, 2021-08, Vol.6 (8), p.902

2021

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Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study

JCO global oncology, 2024-06, Vol.10 (10), p.e2400068-e2400068

2024

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Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

JCO global oncology, 2022-07, Vol.8 (8), p.e2200104

2022

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Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study

Molecular genetics & genomic medicine, 2023-04, Vol.11 (4), p.e2125-n/a

2023

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Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk

Annals of surgical oncology, 2017-10, Vol.24 (10), p.3060-3066

2017

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Germline Genetic Testing After Cancer Diagnosis

JAMA : the journal of the American Medical Association, 2023-07, Vol.330 (1), p.43

2023

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Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark

Annals of surgical oncology, 2018-10, Vol.25 (10), p.2925-2931

2018

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Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1386-1389

2013

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What Is a Variant of Uncertain Significance in Genetic Testing?

European urology focus, 2022-05, Vol.8 (3), p.654-656

2022

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Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis

Breast cancer research and treatment, 2022-11, Vol.196 (2), p.355-361

2022

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Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer

Gynecologic oncology, 2022-08, Vol.166 (2), p.344-350

2022

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Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-04, Vol.22 (4), p.681-685

2020

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Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making

Annals of surgical oncology, 2024-01, Vol.31 (1), p.325-334

2024

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Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

Organization of the human intestine at single-cell resolution

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

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

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

Trans-ethnic variation in germline variants of patients with renal cell carcinoma

Segmentation of human functional tissue units in support of a Human Reference Atlas

Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Early Genetic Testing in Pediatric Epilepsy: Diagnostic and Cost Implications

Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study

Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk

Germline Genetic Testing After Cancer Diagnosis

Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

What Is a Variant of Uncertain Significance in Genetic Testing?

Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis

Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer

Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making

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