Publications by authors named "Matthew Sampson"

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Gaining a Genomic Foothold on Unexplained Kidney Failure.
Janewit Wongboonsin, Michelle T McNulty, Matthew G Sampson

Am J Kidney Dis· December 2025

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The landscape of allele-specific expression in human kidneys.
Ana C Onuchic-Whitford, Junmo Sung, Eric D Sakkas, Michelle T McNulty, Christopher L O'Connor, Matthew G Sampson

bioRxiv· December 2025

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Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Janewit Wongboonsin, Kristen M Gibson, Juntao Ke, Zachary Sentell, Juliana E Arcila Galvis, Matthew G Sampson

Kidney Int· December 2025

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Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria Gauntner, Kavita Krueger, Matthew G Sampson

Nat Commun· November 2025

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Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.
Asheeta Gupta, Kushani Jayasinghe, Amar Majmundar, Nina Mann, Rajiv Sinha, Matthew G Sampson

Pediatr Nephrol· September 2025

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Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.
Asheeta Gupta, Kushani Jayasinghe, Amar Majmundar, Nina Mann, Rajiv Sinha, Matthew G Sampson

Pediatr Nephrol· September 2025

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Evaluating the relationship between the landing error scoring system and single leg squat in ROTC cadets.
Julie P Burland, Ryan Nguyen, Michael Sarnelli, Matthew Sampson, Jacob Carlson

Phys Ther Sport· July 2025

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Loss of genome maintenance is linked to mTOR complex 1 signaling and accelerates podocyte damage.
Fabian Braun, Amrei M Mandel, Linda Blomberg, Milagros N Wong, Georgia Chatzinikolaou, Matthew G Sampson

JCI Insight· June 2025

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Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.
Benjamin Wooden, Andrew Beenken, Elena Martinelli, Ken Saida, Andrea L Knob, Matthew G Sampson

J Am Soc Nephrol· February 2025

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A guide to gene-disease relationships in nephrology.
Zornitza Stark, Alicia B Byrne, Matthew G Sampson, Rachel Lennon, Andrew J Mallett

Nat Rev Nephrol· February 2025

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The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.
Christopher A Simeone, Michelle T McNulty, Yask Gupta, Giulio Genovese, Matthew G Sampson

G3 (Bethesda)· February 2025

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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein, Matthew G Sampson

NPJ Genom Med· December 2024

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Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
Andreia Watanabe, Precil Diego Miranda de Menezes Neves, Kelly Nunes, Antonio Marcondes Lerario, Elieser Hitoshi Watanabe, Matthew Gordon Sampson

Kidney Int Rep· December 2024

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Pediatric contributions and lessons learned from the NEPTUNE cohort study.
Zubin J Modi, Yan Zhai, Jennifer Yee, Hailey Desmond, Wei Hao, Matthew G Sampson

Pediatr Nephrol· September 2024

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Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Precil D Neves, Andreia Watanabe, Elieser H Watanabe, Amanda M Narcizo, Kelly Nunes, Matthew G Sampson

Kidney Int· March 2024

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A model to screen Alport syndrome variants for their functional pathogenicity.
Jianli Duan, Pei Wen, Yunpo Zhao, Joyce van de Leemput, Jennifer Lai Yee, Matthew G Sampson

bioRxiv· March 2024

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Recessive variants in the intergenic locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria Gauntner, Kavita Krueger, Matthew G Sampson

medRxiv· March 2024

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Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant.
Rasheed Gbadegesin, Elena Martinelli, Yask Gupta, David J Friedman, Matthew G Sampson

Glomerular Dis· February 2024

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The Significance of Hematuria in Podocytopathies.
Dorota Marchel, Howard Trachtman, Maria Larkina, Margaret Helmuth, Jennifer Y Lai Yee, Matthew G Sampson

Clin J Am Soc Nephrol· January 2024

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Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon Lane, Matthew G Sampson

Nat Commun· November 2023

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The association of low birthweight and prematurity on outcomes in children and adults with nephrotic syndrome-a NEPTUNE cohort study.
Sangeeta Hingorani, Keisha L Gibson, Yuping Xie, Yujie Wang, Sean Eddy, Matthew Sampson

Pediatr Nephrol· October 2023

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Strong protective effect of the p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Yask Gupta, David J Friedman, Michelle McNulty, Atlas Khan, Brandon Lane, Matthew G Sampson

medRxiv· August 2023

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Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators.
Jennifer E Fishbein, Loryn Wilson Dass, Chrysta Lienczewski, Matthias Kretzler, Rasheed A Gbadegesin, Matthew G Sampson

Glomerular Dis· August 2023

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Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.
Seong Kyu Han, Michelle T McNulty, Christopher J Benway, Pei Wen, Anya Greenberg, Matthew G Sampson

Nat Commun· April 2023

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Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Matthew G Sampson

Nat Commun· April 2023

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