about
Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraFelic (CIP4b), a novel binding partner with the Src kinase Lyn and Cdc42, localizes to the phagocytic cupA reference panel of 64,976 haplotypes for genotype imputation.Defining nephrotic syndrome from an integrative genomics perspective.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome.Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.Complete Remission in the Nephrotic Syndrome Study Network.Copy-number disorders are a common cause of congenital kidney malformationsA role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.Src kinases in G-CSF receptor signaling.Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach.Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarkerActualizing the Benefits of Genomic Discovery in Pediatric Nephrology.Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis.A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts.The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.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.A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.A Familial Infantile Renal Failure.Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic SyndromeChildhood Onset Nephrotic SyndromeTransethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic SyndromeSex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysisGlomerular and tubulointerstitial eQTLs for genomic discoveryThe copy number variation landscape of congenital anomalies of the kidney and urinary tractDiagnoses of uncertain significance: kidney genetics in the 21st centuryDisruption of the exocyst induces podocyte loss and dysfunctionAuthor Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tractAuthor Correction: Using and producing publicly available genomic data to accelerate discovery in nephrologyThe human nephrin Y1139RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular developmentUsing and producing publicly available genomic data to accelerate discovery in nephrology
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Matthew G Sampson
@ast
Matthew G Sampson
@en
Matthew G Sampson
@es
Matthew G Sampson
@nl
type
label
Matthew G Sampson
@ast
Matthew G Sampson
@en
Matthew G Sampson
@es
Matthew G Sampson
@nl
prefLabel
Matthew G Sampson
@ast
Matthew G Sampson
@en
Matthew G Sampson
@es
Matthew G Sampson
@nl
P106
P1153
57195268564
P31
P496
0000-0001-9560-076X