Author details

Full Name

Matthew G Sampson

Affiliation

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37120605	Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.	Nat Commun	2023
38036523	Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.	Nat Commun	2023
37901694	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.		2023
34732507	Discovery of Autoantibodies Targeting Nephrin in Minimal Change Disease Supports a Novel Autoimmune Etiology.	J Am Soc Nephrol	2022
35523146	Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility.	American Journal of Human Genetics	2022
36282916	ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit.	Proc Natl Acad Sci U S A	2022
36006643	Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental Glomerulosclerosis.	JAMA Netw Open	2022
36508674	Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model.	Proc Natl Acad Sci U S A	2022
34929253	A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis.	Kidney Int	2022
33646395	APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis.	Pediatr Nephrol	2021
33585978	APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses.	Pediatric Nephrology	2021
33958779	Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.	Nat Genet	2021
33794228	APOL1 at 10 years: progress and next steps.	Kidney Int	2021
33597122	Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.	J Am Soc Nephrol	2021
33863784	A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (<i>RCAN1</i>) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.	J Am Soc Nephrol	2021
32554042	Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.	Kidney Int	2020
32265521	Diagnoses of uncertain significance: kidney genetics in the 21st century.	Nat Rev Nephrol	2020
32231244	The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.	Nat Commun	2020
31992576	Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation.	Clin J Am Soc Nephrol	2020
32154457	Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI).	Kidney International Reports	2020
33046893	Quantify and control reproducibility in high-throughput experiments.	Nature Methods	2020
31152064	The human nephrin YRSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development.	Journal of Biological Chemistry	2019
32280839	Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome.	Kidney Int Rep	2019
30514972	Glomerular and tubulointerstitial eQTLs for genomic discovery.	Nature Reviews Nephrology	2019
30578417	The copy number variation landscape of congenital anomalies of the kidney and urinary tract.	Nat Genet	2019
31091373	Genomic Mismatch at <i>LIMS1</i> Locus and Kidney Allograft Rejection.	N Engl J Med	2019
31182850	Using and producing publicly available genomic data to accelerate discovery in nephrology.	Nature Reviews Nephrology	2019
30760496	Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.	J Am Soc Nephrol	2019
30816350	Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.	Nat Genet	2019
31471357	Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a <i>RET</i> mutation.	BMJ Case Rep	2019
31453292	Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.	Data Brief	2019
31073028	Disruption of the exocyst induces podocyte loss and dysfunction.	Journal of Biological Chemistry	2019
31015462	Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.	Nat Commun	2019
30955946	Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.	American Journal of Kidney Diseases	2019
31363178	Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology.	Nature Reviews Nephrology	2019
29382385	Meeting report of the 2017 KidGen Renal Genetics Symposium.	Hum Genomics	2018
28339911	A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.	Nephrol Dial Transplant	2018
30057032	An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome.	Am J Hum Genet	2018
29903748	Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.	J Am Soc Nephrol	2018
29531077	<i>UBD</i> modifies <i>APOL1</i>-induced kidney disease risk.	Proc Natl Acad Sci U S A	2018
28121514	Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.	N Engl J Med	2017
28349212	Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.	Pediatr Nephrol	2017
28526779	The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase <i>Îµ</i>.	J Am Soc Nephrol	2017
28737604	The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome.	Transplantation	2017
29100090	Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.	Am J Hum Genet	2017
29270533	A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.	Kidney International Reports	2017
29142950	A Familial Infantile Renal Failure.	Kidney International Reports	2017
29220675	Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.	Am J Hum Genet	2017
27190333	APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts.	Nephrol Dial Transplant	2017
27766458	Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.	Pediatr Nephrol	2017