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

European journal of immunology, 2017-09, Vol.47 (11), p.1989-2001

2017

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Genotype–phenotype correlation at codon 1740 of SETD2

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2037-2048

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 NOD mice

The Journal of immunology (1950), 2015-11, Vol.196 (1), p.264-273

2015

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Benzimidazoisoquinolines: A New Class of Rapidly Metabolized Aryl Hydrocarbon Receptor

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

2014

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Physiological characterization of Enterococcus faecalis during azoreductase activity

Microbial ecology in health and disease, 2008-06, Vol.20 (2)

2008

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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: e88726

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

2014

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Characterization of azo dye reduction in Enterococcus faecalis

Punj, Sumit

2008

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Physiological characterization of Enterococcus faecalis during azoreductase activity

Microbial ecology in health and disease, 2008, Vol.20 (2), p.65-73

2008

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

Clinical case reports, 2023, Vol.11 (6), p.e7502-e7502

2023

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A case for expanding carrier testing to include actionable X-linked disorders

Clinical case reports, 2018, Vol.6 (11), p.2092-2095

2018

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

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

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

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

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

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

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

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

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

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

Genotype–phenotype correlation at codon 1740 of SETD2

Activation of the aryl hydrocarbon receptor by 10-Cl-BBQ prevents insulitis and effector T cell development independently of Foxp3+ regulatory T cells in NOD mice

Benzimidazoisoquinolines: A New Class of Rapidly Metabolized Aryl Hydrocarbon Receptor

Physiological characterization of Enterococcus faecalis during azoreductase activity

Benzimidazoisoquinolines: A New Class of Rapidly Metabolized Aryl Hydrocarbon Receptor (AhR) Ligands that Induce AhR-Dependent Tregs and Prevent Murine Graft-Versus-Host Disease: e88726

Characterization of azo dye reduction in Enterococcus faecalis

Physiological characterization of Enterococcus faecalis during azoreductase activity

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

A case for expanding carrier testing to include actionable X-linked disorders

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