ABOUT THE RESEARCHER

OVERVIEW

Friedhelm Hildebrandt’s research focuses on the identification and functional characterization of recessive single-gene causes of kidney diseases in children. His group has identified more than 30 novel kidney disease genes.

His lab studies the function of newly identified disease genes in disease models of mice and zebrafish. He has developed efficient methods for gene identification using whole exome resequencing and other highly-parallel sequencing techniques.

Since 2000, Friedhelm Hildebrandt has performed ‘experimental’ mutation analysis in single-gene renal diseases worldwide for more than 5,000 pediatric patients.

BACKGROUND

Friedhelm Hildebrandt received his MD from Marburg University Medical School and completed internships and residency at Marburg University Medical School and Heidelberg University, both in Germany, and Middlesex Hospital Medical School in London. 

He also completed postdoctoral research at Yale University. He is an investigator of the Howard Hughes Medical Institute (HHMI), a member of the American Association of Physicians (AAP), a member of the German Academy of Sciences (Leopoldina) and received the E. Mead Johnson Award in Pediatric Research (APS/SPR).

Selected Publications

  1. *Zhou W, *Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, and 20 other authors, Smogorzewska A and Hildebrandt F. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. (*both authors contributed equally). Nat Genet 44:910-915, 2012 (editorial p. 836-38)
  2. Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, and 40 authors and Hildebrandt F. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533-48, 2012
  3. Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 123:3243-53, 2012.

PUBLICATIONS

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  1. Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease. Proc Natl Acad Sci U S A. 2021 09 28; 118(39). View abstract
  2. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. Am J Med Genet A. 2021 Sep 15. View abstract
  3. Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Sci Rep. 2021 Sep 14; 11(1):18274. View abstract
  4. Whole exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Nephrol Dial Transplant. 2021 Sep 02. View abstract
  5. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A. 2021 Aug 02. View abstract
  6. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Hum Mutat. 2021 Oct; 42(10):1221-1228. View abstract
  7. Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. Am J Med Genet A. 2021 10; 185(10):3005-3011. View abstract
  8. Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. Front Immunol. 2021; 12:624821. View abstract
  9. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 08; 148(2):381-393. View abstract
  10. 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
  11. 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
  12. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. View abstract
  13. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. View abstract
  14. 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
  15. 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
  16. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 Jan; 7(1). View abstract
  17. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View abstract
  18. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View abstract
  19. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View abstract
  20. Loss of Anks6 leads to YAP deficiency and liver abnormalities. Hum Mol Genet. 2020 11 04; 29(18):3064-3080. View abstract
  21. 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
  22. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View abstract
  23. Podocytopathies. Nat Rev Dis Primers. 2020 08 13; 6(1):68. View abstract
  24. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 07; 58(7):453-464. View abstract
  25. Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. Kidney Int. 2020 10; 98(4):958-969. View abstract
  26. 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
  27. 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
  28. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. J Inherit Metab Dis. 2020 09; 43(5):1131-1142. View abstract
  29. PLCE1 regulates the migration, proliferation, and differentiation of podocytes. Exp Mol Med. 2020 04; 52(4):594-603. View abstract
  30. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. 2020 03 01; 35(3):390-397. View abstract
  31. PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 2020 01; 6(2):eaax9852. View abstract
  32. 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
  33. Utility of Genomic Testing after Renal Biopsy. Am J Nephrol. 2020; 51(1):43-53. View abstract
  34. 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
  35. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020 01; 182(1):229-249. View abstract
  36. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293. View abstract
  37. 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
  38. 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
  39. 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
  40. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Pediatr Rheumatol Online J. 2019 Jul 30; 17(1):52. View abstract
  41. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889. View abstract
  42. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. View abstract
  43. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View abstract
  44. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney Int. 2019 08; 96(2):320-326. View abstract
  45. 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
  46. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatr Nephrol. 2019 09; 34(9):1607-1613. View abstract
  47. 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
  48. 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
  49. 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
  50. 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
  51. 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
  52. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney Int. 2019 05; 95(5):1079-1090. View abstract
  53. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View abstract
  54. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2019 03 01; 34(3):474-485. View abstract
  55. 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
  56. 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
  57. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928. View abstract
  58. 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
  59. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View abstract
  60. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 01 03; 104(1):45-54. View abstract
  61. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 01; 51(1):117-127. View abstract
  62. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Orphanet J Rare Dis. 2018 12 17; 13(1):226. View abstract
  63. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. View abstract
  64. 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
  65. 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
  66. Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. Zebrafish. 2018 10; 15(5):445-453. View abstract
  67. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. . 2018 11; 176(11):2460-2465. View abstract
  68. 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
  69. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. View abstract
  70. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiol Rep. 2018 06; 6(12):e13715. View abstract
  71. 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
  72. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 05 17; 9(1):1960. View abstract
  73. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genet. 2018 03; 14(3):e1007316. View abstract
  74. 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
  75. 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
  76. 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
  77. 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
  78. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 12 07; 101(6):1034. View abstract
  79. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol. 2017 Dec 07; 12(12):1974-1983. View abstract
  80. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View abstract
  81. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. View abstract
  82. 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
  83. Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 12 01; 127(12):4257-4269. View abstract
  84. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View abstract
  85. Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. Mamm Genome. 2017 12; 28(11-12):498-514. View abstract
  86. 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
  87. 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
  88. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. View abstract
  89. 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
  90. 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
  91. 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
  92. 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
  93. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet. 2017 Apr 06; 100(4):666-675. View abstract
  94. Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Mar 01; 9(3). View abstract
  95. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2017 Jul; 32(7):1181-1192. View abstract
  96. 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
  97. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):372. View abstract
  98. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. View abstract
  99. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):323-333. View abstract
  100. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. J Am Soc Nephrol. 2017 May; 28(5):1521-1533. View abstract
  101. Genetics of Kidney Diseases. Semin Nephrol. 2016 11; 36(6):472-474. View abstract
  102. Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. Semin Nephrol. 2016 11; 36(6):448. View abstract
  103. 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
  104. 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
  105. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. View abstract
  106. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. PLoS One. 2016; 11(5):e0156081. View abstract
  107. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 06 02; 98(6):1228-1234. View abstract
  108. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. View abstract
  109. 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
  110. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. J Am Soc Nephrol. 2016 Dec; 27(12):3552-3559. View abstract
  111. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun. 2016 Feb 24; 7:10822. View abstract
  112. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr; 48(4):457-65. View abstract
  113. 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
  114. 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
  115. 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
  116. 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
  117. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol. 2016 Mar; 12(3):133-46. View abstract
  118. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. J Med Genet. 2016 Mar; 53(3):208-14. View abstract
  119. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell. 2015 Dec 03; 163(6):1484-99. View abstract
  120. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant. 2016 11; 31(11):1802-1813. View abstract
  121. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 2015 Oct 21; 6:8666. View abstract
  122. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 2016 Jan; 53(1):62-72. View abstract
  123. 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
  124. Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders. Nat Rev Nephrol. 2015 Nov; 11(11):635-6. View abstract
  125. 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
  126. 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
  127. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat. 2015 Nov; 36(11):1021-8. View abstract
  128. 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
  129. 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
  130. 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
  131. 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
  132. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602. View abstract
  133. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun; 125(6):2375-84. View abstract
  134. 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
  135. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 2015 Apr 13; 209(1):129-42. View abstract
  136. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis. 2015 Mar; 9(2):119-25. View abstract
  137. 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
  138. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015 Mar; 52(3):147-56. View abstract
  139. Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 08; 96(1):153-61. View abstract
  140. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 08; 96(1):81-92. View abstract
  141. 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
  142. Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. PLoS Genet. 2014 Oct; 10(10):e1004594. View abstract
  143. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 2015 Mar; 26(3):543-51. View abstract
  144. SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. Neuron. 2014 Aug 20; 83(4):805-22. View abstract
  145. Diverse phenotypic expression of NPHP4 mutations in four siblings. Turk J Pediatr. 2014 Jul-Aug; 56(4):423-6. View abstract
  146. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 05; 94(6):905-14. View abstract
  147. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 05; 94(6):884-90. View abstract
  148. 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
  149. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. J Am Soc Nephrol. 2014 Nov; 25(11):2573-83. View abstract
  150. 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
  151. Pediatric kidney disease: tracking onset and improving clinical outcomes. Clin J Am Soc Nephrol. 2014 Jun 06; 9(6):1141-3. View abstract
  152. 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
  153. 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
  154. 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
  155. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec; 123(12):5179-89. View abstract
  156. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int. 2014 Apr; 85(4):880-7. View abstract
  157. 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
  158. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest. 2013 Aug; 123(8):3243-53. View abstract
  159. Karyomegalic interstitial nephritis. Lancet. 2013 Dec 21; 382(9910):2093. View abstract
  160. 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
  161. 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
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