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Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

Human mutation, 2019-08, Vol.40 (8), p.1127-1144

2019

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

American journal of human genetics, 2019-04, Vol.104 (4), p.685-700

2019

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Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis

Experimental and molecular pathology, 2024-12, Vol.140, p.104940, Article 104940

2024

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Capture‐based targeted sequencing using a T‐cell control in myeloid malignancies and idiopathic cytopenias

British journal of haematology, 2024-04, Vol.204 (4), p.1325-1334

2024

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Towards more accurate pharmacogenomic variant effect predictions

Pharmacogenomics, 2023-11, Vol.24 (16), p.841-844

2023

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AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Human mutation, 2020-06, Vol.41 (6), p.1145-1156

2020

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An algorithm for optimal testing in co‐segregation analysis

Human mutation, 2022-05, Vol.43 (5), p.547-556

2022

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“Virtual patch clamp analysis” for predicting the functional significance of pathogenic variants in sodium channels

Epilepsy research, 2022-10, Vol.186, p.107002-107002, Article 107002

2022

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Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

Human mutation, 2019-10, Vol.40 (10), p.1684-1689

2019

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Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype

Annals of the rheumatic diseases, 2021-07, Vol.80 (7), p.e117-e117

2021

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Genetics in medicine, 2019-03, Vol.21 (3), p.705-717

2019

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Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish

Human molecular genetics, 2024-01, Vol.33 (2), p.150-169

2024

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Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5

Disease models & mechanisms, 2023-09, Vol.16 (9)

2023

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Resistance to Thyroid Hormone Beta: A Focused Review

Frontiers in endocrinology (Lausanne), 2021-03, Vol.12, p.656551

2021

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Germline variant profiling of CHEK2 sequencing variants in breast cancer patients

Cancer genetics, 2024-11, Vol.288-289, p.10-19

2024

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Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings

Europace (London, England), 2023-11, Vol.25 (11)

2023

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Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism

Pigment cell and melanoma research, 2024-09, Vol.37 (5), p.534-545

2024

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Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States

Pediatric nephrology (Berlin, West), 2023-12, Vol.38 (12), p.4061-4068

2023

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Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data

Critical reviews in oncology/hematology, 2018-12, Vol.132, p.138-144

2018

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Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant

Human mutation, 2021-05, Vol.42 (5), p.592-599

2021

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The N-terminal domain of the Schaaf–Yang syndrome protein MAGEL2 likely has a role in RNA metabolism

The Journal of biological chemistry, 2021-08, Vol.297 (2), p.100959, Article 100959

2021

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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Frontiers in genetics, 2022-03, Vol.13, p.782685-782685

2022

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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Annals of Laboratory Medicine, 2019, 39(3), , pp.299-310

2019

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Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

Clinical genetics, 2015-08, Vol.88 (2), p.161-166

2015

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Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis

Capture‐based targeted sequencing using a T‐cell control in myeloid malignancies and idiopathic cytopenias

Towards more accurate pharmacogenomic variant effect predictions

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

An algorithm for optimal testing in co‐segregation analysis

“Virtual patch clamp analysis” for predicting the functional significance of pathogenic variants in sodium channels

Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish

Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5

Resistance to Thyroid Hormone Beta: A Focused Review

Germline variant profiling of CHEK2 sequencing variants in breast cancer patients

Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism

Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States

Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data

Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant

The N-terminal domain of the Schaaf–Yang syndrome protein MAGEL2 likely has a role in RNA metabolism

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

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