Publications by authors named "Sumit Punj"

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Prevalence of the M1 Modifier p.N264K in APOL1 Among Individuals With Kidney Disease Undergoing Commercial Genetic Testing in the United States.
Ronaldo da Silva Francisco, Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla

Am J Kidney Dis· November 2025

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Role of Comprehensive Renal Genetic Testing in Diagnosing a Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes.
Quinn Stein, Ryan Mascarenhas, Sumit Punj, Maggie Westemeyer, Emily Hendricks

Clin Case Rep· April 2025

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Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Dinah Clark, Robert Burns, Michelle S Bloom, Karen Phaik Har Lim, Lili Li, Sumit Punj

Am J Med Genet A· December 2024

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Prevalence of Mendelian Kidney Disease Among Patients With High-Risk Genotypes Undergoing Commercial Genetic Testing in the United States.
Ronaldo da Silva Francisco, Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla

Kidney Int Rep· September 2024

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Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
Quinn Stein, Anna Vostrizansky, Yelena Magay, Sara Jandeska, Maggie Westemeyer, Sumit Punj

Kidney Int Rep· June 2024

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The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Neera K Dahl, Michelle S Bloom, Fouad T Chebib, Dinah Clark, Maggie Westemeyer, Sumit Punj

J Am Soc Nephrol· December 2023

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Isolated benign persistent proteinuria with novel association of (cubilin) variants.
Vivian Shi, Quinn Stein, Dinah Clark, Sumit Punj, Robin Kremsdorf

Clin Case Rep· June 2023

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COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.
Jenelle Cocorpus, Megan M Hager, Corinne Benchimol, Vanesa Bijol, Fadi Salem, Sumit Punj

BMC Nephrol· July 2022

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Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Anthony J Bleyer, Maggie Westemeyer, Jing Xie, Michelle S Bloom, Katya Brossart, Sumit Punj

Am J Nephrol· May 2022

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Sumit Punj

Hum Mutat· April 2021

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Sumit Punj

Genet Med· February 2021

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Sumit Punj

Am J Hum Genet· November 2020

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Genotype-phenotype correlation at codon 1740 of SETD2.
Rachel Rabin, Alireza Radmanesh, Ian A Glass, William B Dobyns, Kimberly A Aldinger, Sumit Punj

Am J Med Genet A· September 2020

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Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
Schaida Schirwani, Natalie Hauser, Anna Platt, Sumit Punj, Katrina Prescott

Eur J Med Genet· June 2020

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A case for expanding carrier testing to include actionable X-linked disorders.
Alan F Rope, Tia L Kauffman, Pat Himes, Laura M Amendola, Sumit Punj

Clin Case Rep· November 2018

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason

Am J Hum Genet· June 2018

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Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.
Benjamin S Wilfond, Tia L Kauffman, Gail P Jarvik, Jacob A Reiss, C Sue Richards, Sumit Punj

Health Aff (Millwood)· May 2018

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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.
Allison K Ehrlich, Jamie M Pennington, Susan Tilton, Xisheng Wang, Nikki B Marshall, Sumit Punj

Eur J Immunol· November 2017

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, Sherri J Bale, Jonathan S Berg, Sumit Punj

Genet Med· May 2017

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Sumit Punj

Am J Hum Genet· July 2016

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Sumit Punj

Am J Hum Genet· June 2016

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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.
Allison K Ehrlich, Jamie M Pennington, Xisheng Wang, Diana Rohlman, Sumit Punj

J Immunol· January 2016

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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.
Sumit Punj, Prasad Kopparapu, Hyo Sang Jang, Jessica L Phillips, Jamie Pennington

PLoS One· December 2014

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Suppression of acute graft-versus-host response by TCDD is independent of the CTLA-4-IFN-γ-IDO pathway.
Diana Rohlman, Sumit Punj, Jamie Pennington, Sam Bradford, Nancy I Kerkvliet

Toxicol Sci· September 2013

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Identification and isolation of an azoreductase from Enterococcus faecium.
Susan R Macwana, Sumit Punj, John Cooper, Evan Schwenk, Gilbert H John

Curr Issues Mol Biol· September 2010

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