Current Environment: Production

Medical Services

Programs & 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

  1. Loss of genome maintenance is linked to mTORC1 signaling and accelerates podocyte damage. JCI Insight. 2025 May 20. View Abstract

  2. Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective. Pediatr Nephrol. 2025 Feb 28. View Abstract

  3. Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology. Pediatr Nephrol. 2025 Feb 13. View Abstract

  4. The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event. G3 (Bethesda). 2025 Feb 05; 15(2). View Abstract

  5. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract

  6. A guide to gene-disease relationships in nephrology. Nat Rev Nephrol. 2025 Feb; 21(2):115-126. View Abstract

  7. Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy. J Am Soc Nephrol. 2025 Feb 01; 36(2):274-289. View Abstract

  8. Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population. Kidney Int Rep. 2024 Dec; 9(12):3501-3516. View Abstract

  9. Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. medRxiv. 2024 Mar 21. View Abstract

  10. A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity. bioRxiv. 2024 Mar 11. View Abstract

  11. APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant. Glomerular Dis. 2024 Jan-Dec; 4(1):43-48. View Abstract

  12. Pediatric contributions and lessons learned from the NEPTUNE cohort study. Pediatr Nephrol. 2024 Sep; 39(9):2555-2568. View Abstract

  13. Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population. Kidney Int. 2024 Mar; 105(3):593-607. View Abstract

  14. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nat Commun. 2023 11 30; 14(1):7836. View Abstract

  15. The Significance of Hematuria in Podocytopathies. Clin J Am Soc Nephrol. 2024 Jan 01; 19(1):56-66. View Abstract

  16. 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. Glomerular Dis. 2023 Jan-Dec; 3(1):178-188. View Abstract

  17. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. medRxiv. 2023 Aug 04. View Abstract

  18. The association of low birthweight and prematurity on outcomes in children and adults with nephrotic syndrome-a NEPTUNE cohort study. Pediatr Nephrol. 2023 10; 38(10):3297-3308. View Abstract

  19. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nat Commun. 2023 04 29; 14(1):2481. View Abstract

  20. Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs. Nat Commun. 2023 04 19; 14(1):2229. View Abstract

  21. Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model. Proc Natl Acad Sci U S A. 2022 12 20; 119(51):e2212810119. View Abstract

  22. 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 11; 119(44):e2210150119. View Abstract

  23. Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental Glomerulosclerosis. JAMA Netw Open. 2022 08 01; 5(8):e2228701. View Abstract

  24. Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility. Am J Hum Genet. 2022 05 05; 109(5):825-837. View Abstract

  25. A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis. Kidney Int. 2022 07; 102(1):136-148. View Abstract

  26. Discovery of Autoantibodies Targeting Nephrin in Minimal Change Disease Supports a Novel Autoimmune Etiology. J Am Soc Nephrol. 2022 01; 33(1):238-252. View Abstract

  27. Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. Nat Genet. 2021 05; 53(5):630-637. View Abstract

  28. A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. J Am Soc Nephrol. 2021 Jul; 32(7):1682-1695. View Abstract

  29. APOL1 at 10 years: progress and next steps. Kidney Int. 2021 06; 99(6):1296-1302. View Abstract

  30. APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. Pediatr Nephrol. 2021 09; 36(9):2747-2757. View Abstract

  31. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Apr; 32(4):805-820. View Abstract

  32. APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatr Nephrol. 2021 08; 36(8):2327-2336. View Abstract

  33. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol. 2020 11; 16(11):616-618. View Abstract

  34. Quantify and control reproducibility in high-throughput experiments. Nat Methods. 2020 12; 17(12):1207-1213. View Abstract

  35. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Int. 2020 11; 98(5):1308-1322. View Abstract

  36. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nat Commun. 2020 03 30; 11(1):1600. View Abstract

  37. Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation. Clin J Am Soc Nephrol. 2020 02 07; 15(2):267. View Abstract

  38. Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome. Kidney Int Rep. 2020 Apr; 5(4):414-425. View Abstract

  39. Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI). Kidney Int Rep. 2020 Mar; 5(3):358-362. View Abstract

  40. Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 Sep; 15(9):590. View Abstract

  41. Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 09; 15(9):523-524. View Abstract

  42. Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation. BMJ Case Rep. 2019 Aug 30; 12(8). View Abstract

  43. 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 Aug; 25:104311. View Abstract

  44. Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects. J Pediatr. 2019 10; 213:103-109. View Abstract

  45. The human nephrin Y1139RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development. J Biol Chem. 2019 07 12; 294(28):10773-10788. View Abstract

  46. Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection. N Engl J Med. 2019 05 16; 380(20):1918-1928. View Abstract

  47. Disruption of the exocyst induces podocyte loss and dysfunction. J Biol Chem. 2019 06 28; 294(26):10104-10119. View Abstract

  48. Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. Nat Commun. 2019 04 23; 10(1):1847. View Abstract

  49. Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019. Am J Kidney Dis. 2019 10; 74(4):549-557. View Abstract

  50. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 04; 51(4):764. View Abstract

  51. Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci. J Am Soc Nephrol. 2019 Mar; 30(3):421-441. View Abstract

  52. Glomerular and tubulointerstitial eQTLs for genomic discovery. Nat Rev Nephrol. 2019 01; 15(1):3-4. View Abstract

  53. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 01; 51(1):117-127. View Abstract

  54. An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome. Am J Hum Genet. 2018 08 02; 103(2):232-244. View Abstract

  55. Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2018 07; 29(7):2000-2013. View Abstract

  56. UBD modifies APOL1-induced kidney disease risk. Proc Natl Acad Sci U S A. 2018 03 27; 115(13):3446-3451. View Abstract

  57. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. Nephrol Dial Transplant. 2018 02 01; 33(2):323-330. View Abstract

  58. The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome. Transplantation. 2017 12; 101(12):2814-2815. View Abstract

  59. An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts. Nephrol Dial Transplant. 2017 Dec 01; 32(12):2051-2058. View Abstract

  60. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. View Abstract

  61. Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 07; 32(7):1285. View Abstract

  62. 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 Jun 01; 32(6):983-990. View Abstract

  63. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase e. J Am Soc Nephrol. 2017 10; 28(10):3066-3075. View Abstract

  64. A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway. Kidney Int Rep. 2017 Nov; 2(6):1238-1242. View Abstract

  65. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. View Abstract

  66. Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis. Front Pediatr. 2016; 4:122. View Abstract

  67. Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 03; 32(3):467-476. View Abstract

  68. A Familial Infantile Renal Failure. Kidney Int Rep. 2017 Mar; 2(2):130-133. View Abstract

  69. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016 10; 48(10):1279-83. View Abstract

  70. tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine. BMC Bioinformatics. 2016 Jun 10; 17(1):233. View Abstract

  71. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. J Clin Invest. 2016 Apr 01; 126(4):1603. View Abstract

  72. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. J Clin Invest. 2016 Mar 01; 126(3):1067-78. View Abstract

  73. Complete Remission in the Nephrotic Syndrome Study Network. Clin J Am Soc Nephrol. 2016 Jan 07; 11(1):81-9. View Abstract

  74. Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker. Sci Transl Med. 2015 Dec 02; 7(316):316ra193. View Abstract

  75. Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. J Am Soc Nephrol. 2016 07; 27(7):1970-83. View Abstract

  76. Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology. J Pediatr Genet. 2016 Mar; 5(1):69-75. View Abstract

  77. GeneVetter: a web tool for quantitative monogenic assessment of rare diseases. Bioinformatics. 2015 Nov 15; 31(22):3682-4. View Abstract

  78. Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects. J Am Soc Nephrol. 2016 Mar; 27(3):814-23. View Abstract

  79. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. PLoS One. 2015; 10(6):e0130729. View Abstract

  80. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol. 2015 May; 35(3):212-21. View Abstract

  81. Defining nephrotic syndrome from an integrative genomics perspective. Pediatr Nephrol. 2015 Jan; 30(1):51-63; quiz 59. View Abstract

  82. A chiral HPLC-MS/MS method for simultaneous quantification of warfarin enantiomers and its major hydroxylation metabolites of CYP2C9 and CYP3A4 in human plasma. Austin J Anal Pharm Chem. 2014; 1(2). View Abstract

  83. Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome. PLoS One. 2013; 8(11):e81062. View Abstract

  84. Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int. 2013 Apr; 83(4):749-56. View Abstract

  85. Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease. Curr Pediatr Rep. 2013 Mar; 1(1):52-59. View Abstract

  86. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. View Abstract

  87. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A. 2010 Oct; 152A(10):2618-22. View Abstract

  88. 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. Am J Hum Genet. 2001 Sep; 69(3):553-69. View Abstract

  89. Appropriate insulin regimes for type 2 diabetes: a multicenter randomized crossover study. Diabetes Care. 2000 Nov; 23(11):1612-8. View Abstract

  90. Assessment of monoethylglycinexylidide as measure of liver function for patients with chronic viral hepatitis. Clin Chem. 1997 Oct; 43(10):1952-7. View Abstract
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