EDUCATION

Medical School

  • Heidelberg University Medical School , 1982 , Heidelberg , Germany

Residency

  • Marburg University Children's Hospital , 1985 , Marburg , Germany

Fellowship

Pediatric Nephrology
  • Marburg University Children's Hospital , 1987 , Marburg , Germany

Fellowship

Research
  • Yale University School of Medicine , 1990 , New Haven , CT

PROFESSIONAL HISTORY

Dr. Hildebrandt serves as an expert for the Department of Nephrology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

PUBLICATIONS

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  1. Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. J Allergy Clin Immunol. 2021 Apr 16. 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. 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
  4. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 Mar; 32(3):580-596. View abstract
  5. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 Feb 02. View abstract
  6. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. View abstract
  7. Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant. 2021 01 25; 36(2):237-246. View abstract
  8. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 Jan; 7(1). View abstract
  9. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View abstract
  10. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View abstract
  11. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View abstract
  12. Loss of Anks6 leads to YAP deficiency and liver abnormalities. Hum Mol Genet. 2020 Nov 04; 29(18):3064-3080. View abstract
  13. Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol. 2020 12 01; 319(6):F988-F999. View abstract
  14. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View abstract
  15. Podocytopathies. Nat Rev Dis Primers. 2020 08 13; 6(1):68. View abstract
  16. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2020 Jul 06. View abstract
  17. Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. Kidney Int. 2020 10; 98(4):958-969. View abstract
  18. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 10; 22(10):1673-1681. View abstract
  19. ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. J Am Soc Nephrol. 2020 06; 31(6):1191-1211. View abstract
  20. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. J Inherit Metab Dis. 2020 09; 43(5):1131-1142. View abstract
  21. PLCE1 regulates the migration, proliferation, and differentiation of podocytes. Exp Mol Med. 2020 04; 52(4):594-603. View abstract
  22. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. 2020 03 01; 35(3):390-397. View abstract
  23. PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 2020 01; 6(2):eaax9852. View abstract
  24. Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. Proc Natl Acad Sci U S A. 2020 01 14; 117(2):1113-1118. View abstract
  25. Utility of Genomic Testing after Renal Biopsy. Am J Nephrol. 2020; 51(1):43-53. View abstract
  26. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. J Am Soc Nephrol. 2019 12; 30(12):2338-2353. View abstract
  27. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020 01; 182(1):229-249. View abstract
  28. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293. View abstract
  29. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int. 2020 03; 97(3):567-579. View abstract
  30. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nat Commun. 2019 09 03; 10(1):3967. View abstract
  31. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. . 2019 10; 179(10):2112-2118. View abstract
  32. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Pediatr Rheumatol Online J. 2019 Jul 30; 17(1):52. View abstract
  33. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889. View abstract
  34. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. View abstract
  35. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View abstract
  36. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney Int. 2019 08; 96(2):320-326. View abstract
  37. Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am J Hum Genet. 2019 05 02; 104(5):994-1006. View abstract
  38. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatr Nephrol. 2019 09; 34(9):1607-1613. View abstract
  39. 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
  40. Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. BMC Med Genet. 2019 03 29; 20(1):53. View abstract
  41. Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. Kidney Int. 2019 09; 96(3):642-655. View abstract
  42. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res. 2019 06 01; 111(10):591-597. View abstract
  43. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat Commun. 2019 03 12; 10(1):1180. View abstract
  44. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney Int. 2019 05; 95(5):1079-1090. View abstract
  45. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View abstract
  46. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2019 03 01; 34(3):474-485. View abstract
  47. Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis. Nat Commun. 2019 02 27; 10(1):953. View abstract
  48. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet. 2019 Mar; 138(3):211-219. View abstract
  49. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928. View abstract
  50. Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice. J Am Soc Nephrol. 2019 Feb 08. View abstract
  51. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View abstract
  52. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 01 03; 104(1):45-54. 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. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Orphanet J Rare Dis. 2018 12 17; 13(1):226. View abstract
  55. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. View abstract
  56. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 09; 29(9):2348-2361. View abstract
  57. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. J Biol Chem. 2018 09 28; 293(39):15243-15255. View abstract
  58. Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. Zebrafish. 2018 10; 15(5):445-453. View abstract
  59. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. . 2018 11; 176(11):2460-2465. View abstract
  60. Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. Eur J Hum Genet. 2018 12; 26(12):1791-1796. View abstract
  61. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. View abstract
  62. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiol Rep. 2018 06; 6(12):e13715. View abstract
  63. A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Rep. 2018 05 22; 23(8):2495-2508. View abstract
  64. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 05 17; 9(1):1960. View abstract
  65. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genet. 2018 03; 14(3):e1007316. View abstract
  66. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ˜43% of 35 Families With Midaortic Syndrome. Hypertension. 2018 04; 71(4):691-699. View abstract
  67. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One. 2018; 13(1):e0191224. View abstract
  68. Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. PLoS One. 2018; 13(1):e0191503. View abstract
  69. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. Hum Mutat. 2018 03; 39(3):406-414. View abstract
  70. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 12 07; 101(6):1034. View abstract
  71. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol. 2017 Dec 07; 12(12):1974-1983. View abstract
  72. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View abstract
  73. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. View abstract
  74. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 01; 29(1):36-50. View abstract
  75. Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 12 01; 127(12):4257-4269. View abstract
  76. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View abstract
  77. Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. Mamm Genome. 2017 12; 28(11-12):498-514. View abstract
  78. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatr Nephrol. 2018 02; 33(2):305-314. View abstract
  79. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. . 2017 Oct; 173(10):2697-2702. View abstract
  80. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. View abstract
  81. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatr Nephrol. 2017 Dec; 32(12):2273-2282. View abstract
  82. Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. Mol Syndromol. 2017 Aug; 8(5):272-277. View abstract
  83. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul; 49(7):1025-1034. View abstract
  84. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol. 2017 Aug; 28(8):2364-2376. View abstract
  85. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet. 2017 Apr 06; 100(4):666-675. View abstract
  86. Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Mar 01; 9(3). View abstract
  87. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2017 Jul; 32(7):1181-1192. View abstract
  88. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest. 2017 Mar 01; 127(3):912-928. View abstract
  89. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):372. View abstract
  90. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. View abstract
  91. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):323-333. View abstract
  92. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. J Am Soc Nephrol. 2017 May; 28(5):1521-1533. View abstract
  93. Genetics of Kidney Diseases. Semin Nephrol. 2016 11; 36(6):472-474. View abstract
  94. Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. Semin Nephrol. 2016 11; 36(6):448. View abstract
  95. A small molecule screening to detect potential therapeutic targets in human podocytes. Am J Physiol Renal Physiol. 2017 01 01; 312(1):F157-F171. View abstract
  96. Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. PLoS Genet. 2016 07; 12(7):e1006220. View abstract
  97. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. View abstract
  98. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. PLoS One. 2016; 11(5):e0156081. View abstract
  99. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 06 02; 98(6):1228-1234. View abstract
  100. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. View abstract
  101. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol. 2017 Jan; 28(1):69-75. View abstract
  102. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. J Am Soc Nephrol. 2016 Dec; 27(12):3552-3559. View abstract
  103. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun. 2016 Feb 24; 7:10822. View abstract
  104. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr; 48(4):457-65. View abstract
  105. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. Pediatr Nephrol. 2016 11; 31(11):2025-33. View abstract
  106. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2016 Feb; 89(2):468-475. View abstract
  107. Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. Nephrol Dial Transplant. 2016 08; 31(8):1280-3. View abstract
  108. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. Clin J Am Soc Nephrol. 2016 Apr 07; 11(4):664-72. View abstract
  109. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol. 2016 Mar; 12(3):133-46. View abstract
  110. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. J Med Genet. 2016 Mar; 53(3):208-14. View abstract
  111. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell. 2015 Dec 03; 163(6):1484-99. View abstract
  112. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant. 2016 11; 31(11):1802-1813. View abstract
  113. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 2015 Oct 21; 6:8666. View abstract
  114. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 2016 Jan; 53(1):62-72. View abstract
  115. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Hum Mutat. 2015 Dec; 36(12):1150-4. View abstract
  116. Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders. Nat Rev Nephrol. 2015 Nov; 11(11):635-6. View abstract
  117. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet. 2015 Oct; 52(10):657-65. View abstract
  118. Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1. J Am Soc Nephrol. 2016 Apr; 27(4):1066-75. View abstract
  119. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat. 2015 Nov; 36(11):1021-8. View abstract
  120. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet. 2015 Aug 06; 97(2):291-301. View abstract
  121. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015 Aug; 138(Pt 8):2173-90. View abstract
  122. Phospholipase C epsilon (PLCe) induced TRPC6 activation: a common but redundant mechanism in primary podocytes. J Cell Physiol. 2015 Jun; 230(6):1389-99. View abstract
  123. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet. 2015 Aug; 134(8):905-16. View abstract
  124. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602. View abstract
  125. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun; 125(6):2375-84. View abstract
  126. The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. J Am Soc Nephrol. 2015 Sep; 26(9):2081-95. View abstract
  127. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 2015 Apr 13; 209(1):129-42. View abstract
  128. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis. 2015 Mar; 9(2):119-25. View abstract
  129. Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial. J Am Soc Nephrol. 2015 Jun; 26(6):1443-8. View abstract
  130. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015 Mar; 52(3):147-56. View abstract
  131. Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 08; 96(1):153-61. View abstract
  132. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 08; 96(1):81-92. View abstract
  133. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015 Jun; 26(6):1279-89. View abstract
  134. Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. PLoS Genet. 2014 Oct; 10(10):e1004594. View abstract
  135. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 2015 Mar; 26(3):543-51. View abstract
  136. SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. Neuron. 2014 Aug 20; 83(4):805-22. View abstract
  137. Diverse phenotypic expression of NPHP4 mutations in four siblings. Turk J Pediatr. 2014 Jul-Aug; 56(4):423-6. View abstract
  138. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 05; 94(6):905-14. View abstract
  139. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 05; 94(6):884-90. View abstract
  140. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2014 Jun 06; 9(6):1109-16. View abstract
  141. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. J Am Soc Nephrol. 2014 Nov; 25(11):2573-83. View abstract
  142. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2014 Sep; 25(9):1917-22. View abstract
  143. Pediatric kidney disease: tracking onset and improving clinical outcomes. Clin J Am Soc Nephrol. 2014 Jun 06; 9(6):1141-3. View abstract
  144. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014 Mar 15; 189(6):707-17. View abstract
  145. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014 Jun; 85(6):1429-33. View abstract
  146. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol. 2014 Apr; 29(4):695-704. View abstract
  147. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec; 123(12):5179-89. View abstract
  148. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int. 2014 Apr; 85(4):880-7. View abstract
  149. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int. 2014 Jun; 85(6):1310-7. View abstract
  150. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest. 2013 Aug; 123(8):3243-53. View abstract
  151. Karyomegalic interstitial nephritis. Lancet. 2013 Dec 21; 382(9910):2093. View abstract
  152. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013 Aug; 45(8):951-6. View abstract
  153. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet. 2013 Aug; 132(8):865-84. View abstract
  154. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet. 2013 Dec; 21(12):1377-82. View abstract
  155. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol. 2013 Feb; 24(3):377-84. View abstract
  156. The Case. Unusual cause of chronic renal failure with elevated liver enzymes. Kidney Int. 2012 Dec; 82(11):1239-40. View abstract
  157. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 Aug 03; 150(3):533-48. View abstract
  158. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet. 2012 Jul 08; 44(8):910-5. View abstract
  159. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract. 2012; 120(3):c139-46. View abstract
  160. Integrin a3 mutations with kidney, lung, and skin disease. N Engl J Med. 2012 Apr 19; 366(16):1508-14. View abstract
  161. Inducible podocyte injury and proteinuria in transgenic zebrafish. J Am Soc Nephrol. 2012 Jun; 23(6):1039-47. View abstract
  162. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012 Jan 15; 44(2):193-9. View abstract
  163. Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Am J Kidney Dis. 2011 Nov; 58(5):821-5. View abstract
  164. Spectrum of clinical diseases caused by disorders of primary cilia. Proc Am Thorac Soc. 2011 Sep; 8(5):444-50. View abstract
  165. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Jul 03; 43(8):776-84. View abstract
  166. Centrosomes and cilia in human disease. Trends Genet. 2011 Aug; 27(8):307-15. View abstract
  167. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13; 145(4):513-28. View abstract
  168. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May; 121(5):2013-24. View abstract
  169. Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. Pediatr Nephrol. 2011 Jul; 26(7):1157-61. View abstract
  170. Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data. Hum Mutat. 2011 Mar; 32(3):345-53. View abstract
  171. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96. View abstract
  172. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct; 42(10):840-50. View abstract
  173. Characterization of mesonephric development and regeneration using transgenic zebrafish. Am J Physiol Renal Physiol. 2010 Nov; 299(5):F1040-7. View abstract
  174. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat. 2010 Sep; 31(9):992-1002. View abstract
  175. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2010 Nov; 5(11):2075-84. View abstract
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