MEDICAL SERVICES

Departments

Programs

Languages

  • English

EDUCATION

Undergraduate Degree

  • 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 Degree

  • University of Pennsylvania , 2011 , Philadelphia , PA

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics
  • American Board of Pediatrics, Pediatric Nephrology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. Nat Genet. 2021 05; 53(5):630-637. View abstract
  2. 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 Apr 16. View abstract
  3. APOL1 at 10 years: progress and next steps. Kidney Int. 2021 06; 99(6):1296-1302. View abstract
  4. APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. Pediatr Nephrol. 2021 Sep; 36(9):2747-2757. View abstract
  5. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Feb 17. View abstract
  6. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol. 2020 11; 16(11):616-618. View abstract
  7. Quantify and control reproducibility in high-throughput experiments. Nat Methods. 2020 12; 17(12):1207-1213. View abstract
  8. 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
  9. Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation. Clin J Am Soc Nephrol. 2020 02 07; 15(2):267. View abstract
  10. 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
  11. Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 Sep; 15(9):590. View abstract
  12. Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 09; 15(9):523-524. View abstract
  13. 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
  14. 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
  15. Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects. J Pediatr. 2019 10; 213:103-109. View abstract
  16. 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
  17. Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection. N Engl J Med. 2019 05 16; 380(20):1918-1928. View abstract
  18. Disruption of the exocyst induces podocyte loss and dysfunction. J Biol Chem. 2019 06 28; 294(26):10104-10119. View abstract
  19. Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. Nat Commun. 2019 04 23; 10(1):1847. View abstract
  20. Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019. Am J Kidney Dis. 2019 10; 74(4):549-557. View abstract
  21. 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
  22. Glomerular and tubulointerstitial eQTLs for genomic discovery. Nat Rev Nephrol. 2019 01; 15(1):3-4. View abstract
  23. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 01; 51(1):117-127. View abstract
  24. An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome. Am J Hum Genet. 2018 08 02; 103(2):232-244. View abstract
  25. 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
  26. UBD modifies APOL1-induced kidney disease risk. Proc Natl Acad Sci U S A. 2018 03 27; 115(13):3446-3451. View abstract
  27. 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
  28. The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome. Transplantation. 2017 12; 101(12):2814-2815. View abstract
  29. 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
  30. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. View abstract
  31. 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
  32. 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
  33. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase e. J Am Soc Nephrol. 2017 10; 28(10):3066-3075. View abstract
  34. 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
  35. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. View abstract
  36. 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
  37. 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
  38. A Familial Infantile Renal Failure. Kidney Int Rep. 2017 Mar; 2(2):130-133. View abstract
  39. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016 10; 48(10):1279-83. View abstract
  40. 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
  41. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. J Clin Invest. 2016 Mar 01; 126(3):1067-78. View abstract
  42. Complete Remission in the Nephrotic Syndrome Study Network. Clin J Am Soc Nephrol. 2016 Jan 07; 11(1):81-9. View abstract
  43. 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
  44. 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
  45. Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology. J Pediatr Genet. 2016 Mar; 5(1):69-75. View abstract
  46. GeneVetter: a web tool for quantitative monogenic assessment of rare diseases. Bioinformatics. 2015 Nov 15; 31(22):3682-4. View abstract
  47. 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
  48. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. PLoS One. 2015; 10(6):e0130729. View abstract
  49. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol. 2015 May; 35(3):212-21. View abstract
  50. Defining nephrotic syndrome from an integrative genomics perspective. Pediatr Nephrol. 2015 Jan; 30(1):51-63; quiz 59. View abstract
  51. Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome. PLoS One. 2013; 8(11):e81062. View abstract
  52. 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
  53. Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease. Curr Pediatr Rep. 2013 Mar; 1(1):52-59. View abstract
  54. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. View abstract
  55. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. . 2010 Oct; 152A(10):2618-22. View abstract