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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

American journal of human genetics, 2018-06, Vol.102 (6), p.1078-1089

2018

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P110: The influence of monogenic kidney disorders on the risk of kidney transplant rejection

Genetics in Medicine Open, 2023, Vol.1 (1), p.100139, Article 100139

2023

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Benzimidazoisoquinolines: a new class of rapidly metabolized aryl hydrocarbon receptor (AhR) ligands that induce AhR-dependent Tregs and prevent murine graft-versus-host disease

PloS one, 2014-02, Vol.9 (2), p.e88726

2014

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COL4A4 variant recently identified: lessons learned in variant interpretation—a case report

BMC nephrology, 2022-07, Vol.23 (1), p.1-253, Article 253

2022

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P108: Kidney features in patients with a molecular diagnosis of Birt-Hogg-Dubé syndrome: A case series

Genetics in Medicine Open, 2023, Vol.1 (1), p.100137, Article 100137

2023

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P109: Heterozygous loss-of-function variants in IFT140 are associated with polycystic kidney disease

Genetics in Medicine Open, 2023, Vol.1 (1), p.100138, Article 100138

2023

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P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes

Genetics in Medicine Open, 2024, Vol.2, p.101297, Article 101297

2024

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Purely Coinci-Dent-al CLCN5 Variants Identified in Two Patients With IgA Nephropathy: SA-PO581

Journal of the American Society of Nephrology, 2022-11, Vol.33 (11S), p.764-764

2022

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Confirmatory Genetic Testing Uncovers the Unexpected: A Rare Dual PKD1/PRKCSH Diagnosis in Familial Autosomal Dominant Polycystic Kidney Disease: TH-PO356

Journal of the American Society of Nephrology, 2022-11, Vol.33 (11S), p.146-146

2022

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“Genotype-First” Approach to Analyzing the Diversity and Prevalence of Genes in a Cohort of Cystic Disease Patients: SA-PO754

Journal of the American Society of Nephrology, 2023-11, Vol.34 (11S), p.937-938

2023

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eP418: Enabling reclassification of missense variants in PKD1/2 – the power of a commercial laboratory database

Genetics in medicine, 2022-03, Vol.24 (3), p.S262-S262

2022

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Refractory Focal Segmental Glomerulosclerosis: A Presentation of Alport Syndrome: SA-PO553

Journal of the American Society of Nephrology, 2022-11, Vol.33 (11S), p.756-757

2022

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Potentially Clinically Relevant Variant of Uncertain Significance in the COL4A5 Gene: SA-PO558

Journal of the American Society of Nephrology, 2022-11, Vol.33 (11S), p.758-758

2022

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Getting the Full Picture: Identifying Cases with Multiple Genetic Diagnoses Using Comprehensive Renal Gene Testing: TH-PO457

Journal of the American Society of Nephrology, 2023-11, Vol.34 (11S), p.217-217

2023

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Reduced Penetrance of ALG9-Associated Cystic Kidney Disease in a Real-World Cohort: TH-PO372

Journal of the American Society of Nephrology, 2022-11, Vol.33 (11S), p.150-151

2022

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Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease

American journal of medical genetics. Part A, 2024-08, p.e63841

2024

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The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease

Journal of the American Society of Nephrology, 2023-12, Vol.34 (12), p.2039-2050

2023

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eP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification

Genetics in medicine, 2022-03, Vol.24 (3), p.S202-S202

2022

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Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

American journal of nephrology, 2022-05, Vol.53 (4), p.297-306

2022

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Human mutation, 2021-04, Vol.42 (4), p.445-459

2021

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Mosaicism in ASXL3-related syndrome: Description of five patients from three families

European journal of medical genetics, 2020-06, Vol.63 (6), p.103925-103925, Article 103925

2020

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AhR activation increases IL‐2 production by alloreactive CD4+ T cells initiating the differentiation of mucosal‐homing Tim3+Lag3+ Tr1 cells

European journal of immunology, 2017-11, Vol.47 (11), p.1989-2001

2017

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

American journal of human genetics, 2020-11, Vol.107 (5), p.963-976

2020

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

P110: The influence of monogenic kidney disorders on the risk of kidney transplant rejection

Benzimidazoisoquinolines: a new class of rapidly metabolized aryl hydrocarbon receptor (AhR) ligands that induce AhR-dependent Tregs and prevent murine graft-versus-host disease

COL4A4 variant recently identified: lessons learned in variant interpretation—a case report

P108: Kidney features in patients with a molecular diagnosis of Birt-Hogg-Dubé syndrome: A case series

P109: Heterozygous loss-of-function variants in IFT140 are associated with polycystic kidney disease

P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes

Purely Coinci-Dent-al CLCN5 Variants Identified in Two Patients With IgA Nephropathy: SA-PO581

Confirmatory Genetic Testing Uncovers the Unexpected: A Rare Dual PKD1/PRKCSH Diagnosis in Familial Autosomal Dominant Polycystic Kidney Disease: TH-PO356

“Genotype-First” Approach to Analyzing the Diversity and Prevalence of Genes in a Cohort of Cystic Disease Patients: SA-PO754

eP418: Enabling reclassification of missense variants in PKD1/2 – the power of a commercial laboratory database

Refractory Focal Segmental Glomerulosclerosis: A Presentation of Alport Syndrome: SA-PO553

Potentially Clinically Relevant Variant of Uncertain Significance in the COL4A5 Gene: SA-PO558

Getting the Full Picture: Identifying Cases with Multiple Genetic Diagnoses Using Comprehensive Renal Gene Testing: TH-PO457

Reduced Penetrance of ALG9-Associated Cystic Kidney Disease in a Real-World Cohort: TH-PO372

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease

eP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Mosaicism in ASXL3-related syndrome: Description of five patients from three families

AhR activation increases IL‐2 production by alloreactive CD4+ T cells initiating the differentiation of mucosal‐homing Tim3+Lag3+ Tr1 cells

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

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