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Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

Clinical case reports, 2023-06, Vol.11 (6), p.e7502-n/a

2023

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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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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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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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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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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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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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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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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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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

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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Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States

Kidney international reports, 2024-06

2024

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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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Activation of the Aryl Hydrocarbon Receptor by 10-Cl-BBQ Prevents Insulitis and Effector T Cell Development Independently of Foxp3+ Regulatory T Cells in Nonobese Diabetic Mice

The Journal of immunology (1950), 2016-01, Vol.196 (1), p.264-273

2016

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Suppression of acute graft-versus-host response by TCDD is independent of the CTLA-4-IFN-γ-IDO pathway

Toxicological sciences, 2013-09, Vol.135 (1), p.81-90

2013

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Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

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

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

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

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

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

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

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

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

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

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

Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States

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

Activation of the Aryl Hydrocarbon Receptor by 10-Cl-BBQ Prevents Insulitis and Effector T Cell Development Independently of Foxp3+ Regulatory T Cells in Nonobese Diabetic Mice

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Suppression of acute graft-versus-host response by TCDD is independent of the CTLA-4-IFN-γ-IDO pathway

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