Matthew Sampson, MD, MS
Nephrologist, Division of Nephrology
Associate Professor of Pediatrics, Harvard Medical School
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Matthew Sampson, MD, MS
Nephrologist, Division of Nephrology
Associate Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Duke University
2000
Durham
NC
Medical School
University of Virginia
2005
Charlottesville
VA
Internship
Children's Hospital of Philadelphia
2006
Philadelphia
PA
Residency
Children's Hospital of Philadelphia
2008
Philadelphia
PA
Fellowship
Children's Hospital of Philadelphia
2011
Philadelphia
PA
Graduate School
University of Pennsylvania
2011
Philadelphia
PA
Publications
Loss of genome maintenance is linked to mTORC1 signaling and accelerates podocyte damage. View Abstract
Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective. View Abstract
Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology. View Abstract
The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
A guide to gene-disease relationships in nephrology. View Abstract
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy. View Abstract
Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population. View Abstract
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. View Abstract
A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity. View Abstract
APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant. View Abstract
Pediatric contributions and lessons learned from the NEPTUNE cohort study. View Abstract
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population. View Abstract
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. View Abstract
The Significance of Hematuria in Podocytopathies. View Abstract
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. View Abstract
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. View Abstract
The association of low birthweight and prematurity on outcomes in children and adults with nephrotic syndrome-a NEPTUNE cohort study. View Abstract
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. View Abstract
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs. View Abstract
Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model. View Abstract
ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit. View Abstract
Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental Glomerulosclerosis. View Abstract
Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility. View Abstract
A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis. View Abstract
Discovery of Autoantibodies Targeting Nephrin in Minimal Change Disease Supports a Novel Autoimmune Etiology. View Abstract
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. View Abstract
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. View Abstract
APOL1 at 10 years: progress and next steps. View Abstract
APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. View Abstract
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. View Abstract
APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. View Abstract
Diagnoses of uncertain significance: kidney genetics in the 21st century. View Abstract
Quantify and control reproducibility in high-throughput experiments. View Abstract
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. View Abstract
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. View Abstract
Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation. View Abstract
Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome. View Abstract
Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI). View Abstract
Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology. View Abstract
Using and producing publicly available genomic data to accelerate discovery in nephrology. View Abstract
Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation. View Abstract
Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses. View Abstract
Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects. View Abstract
The human nephrin Y1139RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development. View Abstract
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection. View Abstract
Disruption of the exocyst induces podocyte loss and dysfunction. View Abstract
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. View Abstract
Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019. View Abstract
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. View Abstract
Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci. View Abstract
Glomerular and tubulointerstitial eQTLs for genomic discovery. View Abstract
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. View Abstract
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome. View Abstract
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome. View Abstract
UBD modifies APOL1-induced kidney disease risk. View Abstract
A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. View Abstract
The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome. View Abstract
An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts. View Abstract
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. View Abstract
Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. View Abstract
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. View Abstract
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase e. View Abstract
A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway. View Abstract
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. View Abstract
Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis. View Abstract
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. View Abstract
A Familial Infantile Renal Failure. View Abstract
A reference panel of 64,976 haplotypes for genotype imputation. View Abstract
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine. View Abstract
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. View Abstract
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. View Abstract
Complete Remission in the Nephrotic Syndrome Study Network. View Abstract
Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker. View Abstract
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. View Abstract
Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology. View Abstract
GeneVetter: a web tool for quantitative monogenic assessment of rare diseases. View Abstract
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects. View Abstract
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. View Abstract
Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. View Abstract
Defining nephrotic syndrome from an integrative genomics perspective. View Abstract
A chiral HPLC-MS/MS method for simultaneous quantification of warfarin enantiomers and its major hydroxylation metabolites of CYP2C9 and CYP3A4 in human plasma. View Abstract
Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome. View Abstract
Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. View Abstract
Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease. View Abstract
Copy-number disorders are a common cause of congenital kidney malformations. View Abstract
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. View Abstract
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. View Abstract
Appropriate insulin regimes for type 2 diabetes: a multicenter randomized crossover study. View Abstract
Assessment of monoethylglycinexylidide as measure of liver function for patients with chronic viral hepatitis. View Abstract
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