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Resolving Incomplete Penetrance in Primary Immunodeficiencies

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109357, Article 109357

2023

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Current Estimates of Cochlear Implant Utilization in the United States

Otology & neurotology, 2022-06, Vol.43 (5), p.e558-e562

2022

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Understanding breast cancer risk ‐ where do we stand in 2005?

Journal of cellular and molecular medicine, 2005-01, Vol.9 (1), p.208-221

2005

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Variant haploinsufficiency and phenotypic non‐penetrance in PRPF31‐associated retinitis pigmentosa

Clinical genetics, 2016-08, Vol.90 (2), p.118-126

2016

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Genetics in medicine, 2014-11, Vol.16 (11), p.830-837

2014

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Human mutation, 2016-11, Vol.37 (11), p.1215-1222

2016

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

Progress in retinal and eye research, 2020-11, Vol.79, p.100861-100861, Article 100861

2020

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Linking Penetrance and Transcription in DYT‐THAP1: Insights From a Human iPSC‐Derived Cortical Model

Movement disorders, 2021-06, Vol.36 (6), p.1381-1391

2021

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Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

Genetics in medicine, 2020-12, Vol.22 (12), p.2108-2113

2020

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Variable Clinical Presentation in Individuals with Truncating Variants in DDX41

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109581, Article 109581

2023

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Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

Neuron (Cambridge, Mass.), 2022-10, Vol.110 (20), p.3243-3262

2022

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Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

The Journal of experimental medicine, 2016-11, Vol.213 (12), p.2527-2538

2016

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Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

Frontiers in genetics, 2022-07, Vol.13, p.920390

2022

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10 Disease penetrance in asymptomatic carriers of familial cardiomyopathy variants

Heart (British Cardiac Society), 2022-06, Vol.108 (Suppl 1), p.A9-A9

2022

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Genetics in medicine, 2013-07, Vol.15 (7), p.565-574

2013

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Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation

European heart journal, 2018-03, Vol.39 (10), p.853-860

2018

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Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Journal of the American Society of Nephrology, 2021-09, Vol.32 (9), p.2273-2290

2021

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Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Genetics in medicine, 2019-12, Vol.21 (12), p.2765-2773

2019

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Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

Genetics in medicine, 2023-03, Vol.25 (3), p.100355-100355, Article 100355

2023

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Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Gene, 2024-11, Vol.927, p.148734, Article 148734

2024

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Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution

American journal of human genetics, 2017-12, Vol.101 (6), p.925-938

2017

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Response to Prakash et al

Genetics in medicine, 2019-08, Vol.21 (8), p.1884-1885

2019

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Resolving Incomplete Penetrance in Primary Immunodeficiencies

Current Estimates of Cochlear Implant Utilization in the United States

Understanding breast cancer risk ‐ where do we stand in 2005?

Variant haploinsufficiency and phenotypic non‐penetrance in PRPF31‐associated retinitis pigmentosa

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

Linking Penetrance and Transcription in DYT‐THAP1: Insights From a Human iPSC‐Derived Cortical Model

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

Variable Clinical Presentation in Individuals with Truncating Variants in DDX41

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

10 Disease penetrance in asymptomatic carriers of familial cardiomyopathy variants

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation

Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution

Response to Prakash et al

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants

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