Information

Related Research Units

Nephrology Research

Research 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.

Research 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.

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

Publications

  1. Epigenomic and phenotypic characterization of DEGCAGS syndrome. Eur J Hum Genet. 2024 Dec; 32(12):1574-1582. View Abstract
  2. Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics. Kidney Med. 2024 Dec; 6(12):100910. View Abstract
  3. Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy. J Am Soc Nephrol. 2024 Oct 01. View Abstract
  4. 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
  5. Genetic Contributions to Lower Urinary Tract Dysfunction. Am J Med Genet A. 2025 Jan; 197(1):e63859. View Abstract
  6. The evolving landscape of monogenic nephrolithiasis and therapeutic innovations. Nat Rev Urol. 2024 09; 21(9):513-514. View Abstract
  7. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 06; 15(8). View Abstract
  8. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. Front Endocrinol (Lausanne). 2024; 15:1424819. View Abstract
  9. Phenotypic quantification of Nphs1-deficient mice. J Nephrol. 2024 Jul 14. View Abstract
  10. Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type. Sci Rep. 2024 07 10; 14(1):15916. View Abstract
  11. Correction to: Phenotypic quantification of Nphs1-deficient mice. J Nephrol. 2024 Jul; 37(6):1723. View Abstract
  12. Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. Pediatr Nephrol. 2024 Oct; 39(10):2939-2945. View Abstract
  13. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. View Abstract
  14. Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders. bioRxiv. 2024 May 29. View Abstract
  15. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract
  16. Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. Res Sq. 2024 Apr 11. View Abstract
  17. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
  18. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Genes Dis. 2025 Mar; 12(2):101280. View Abstract
  19. Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. medRxiv. 2024 Mar 21. View Abstract
  20. Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies. Am J Physiol Renal Physiol. 2024 May 01; 326(5):F780-F791. View Abstract
  21. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 01; 9(1):18. View Abstract
  22. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). Kidney Int. 2024 Apr; 105(4):844-864. View Abstract
  23. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nat Commun. 2023 Nov 30; 14(1):7836. View Abstract
  24. Nephronophthisis: a pathological and genetic perspective. Pediatr Nephrol. 2024 Jul; 39(7):1977-2000. View Abstract
  25. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract
  26. Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. Genes Dis. 2024 Sep; 11(5):101111. View Abstract
  27. Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatr Nephrol. 2024 Feb; 39(2):455-461. View Abstract
  28. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
  29. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. medRxiv. 2023 Aug 04. View Abstract
  30. The genetics and pathogenesis of CAKUT. Nat Rev Nephrol. 2023 11; 19(11):709-720. View Abstract
  31. Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney. Nephron. 2023; 147(11):685-692. View Abstract
  32. LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus. Cell Commun Signal. 2023 06 16; 21(1):142. View Abstract
  33. Recessive CHRM5 variant as a potential cause of neurogenic bladder. Am J Med Genet A. 2023 08; 191(8):2083-2091. View Abstract
  34. 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
  35. Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes. Front Med (Lausanne). 2023; 10:1089159. View Abstract
  36. Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). medRxiv. 2023 Mar 22. View Abstract
  37. Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2?years of life. Acta Paediatr. 2023 06; 112(6):1324-1332. View Abstract
  38. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2023 02 01; 34(2):273-290. View Abstract
  39. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. Am J Med Genet A. 2023 05; 191(5):1355-1359. View Abstract
  40. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genet Med. 2023 03; 25(3):100351. View Abstract
  41. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J Med Genet. 2023 06; 60(6):587-596. View Abstract
  42. Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. Am J Med Genet C Semin Med Genet. 2022 09; 190(3):325-343. View Abstract
  43. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Nephrol Dial Transplant. 2022 09 22; 37(10):1833-1843. View Abstract
  44. Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity. J Am Soc Nephrol. 2022 11; 33(11):1989-2007. View Abstract
  45. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Eur Urol Open Sci. 2022 Oct; 44:106-112. View Abstract
  46. Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation. Cell Rep. 2022 08 09; 40(6):111166. View Abstract
  47. PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. NPJ Genom Med. 2022 Jul 01; 7(1):40. View Abstract
  48. Activation of 2-oxoglutarate receptor 1 (OXGR1) by a-ketoglutarate (aKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes. Physiol Rep. 2022 07; 10(14):e15362. View Abstract
  49. A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. J Clin Endocrinol Metab. 2022 05 17; 107(6):e2513-e2522. View Abstract
  50. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Int J Mol Sci. 2022 Feb 03; 23(3). View Abstract
  51. Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila. Kidney Int. 2022 06; 101(6):1216-1231. View Abstract
  52. The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. J Nephrol. 2022 07; 35(6):1655-1665. View Abstract
  53. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. Am J Med Genet A. 2022 05; 188(5):1355-1367. View Abstract
  54. Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. Biochem J. 2022 01 14; 479(1):91-109. View Abstract
  55. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Abstract
  56. Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC Med Genomics. 2021 11 12; 14(1):266. View Abstract
  57. Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. Pediatr Nephrol. 2022 07; 37(7):1567-1574. View Abstract
  58. Corrigendum: Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. Front Immunol. 2021; 12:798560. View Abstract
  59. Deep learning is widely applicable to phenotyping embryonic development and disease. Development. 2021 11 01; 148(21). View Abstract
  60. 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
  61. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. Am J Med Genet A. 2022 01; 188(1):310-313. View Abstract
  62. Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Sci Rep. 2021 09 14; 11(1):18274. View Abstract
  63. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A. 2021 12; 185(12):3784-3792. View Abstract
  64. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Hum Mutat. 2021 10; 42(10):1221-1228. View Abstract
  65. 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
  66. Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. Front Immunol. 2021; 12:624821. View Abstract
  67. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 08; 148(2):381-393. View Abstract
  68. 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
  69. 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
  70. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. View Abstract
  71. 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
  72. 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
  73. 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
  74. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1). View Abstract
  75. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View Abstract
  76. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View Abstract
  77. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View Abstract
  78. Loss of Anks6 leads to YAP deficiency and liver abnormalities. Hum Mol Genet. 2020 11 04; 29(18):3064-3080. View Abstract
  79. 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
  80. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Abstract
  81. Podocytopathies. Nat Rev Dis Primers. 2020 08 13; 6(1):68. View Abstract
  82. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 07; 58(7):453-464. View Abstract
  83. Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. Kidney Int. 2020 10; 98(4):958-969. View Abstract
  84. 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
  85. 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
  86. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. J Inherit Metab Dis. 2020 09; 43(5):1131-1142. View Abstract
  87. PLCE1 regulates the migration, proliferation, and differentiation of podocytes. Exp Mol Med. 2020 04; 52(4):594-603. View Abstract
  88. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. 2020 03 01; 35(3):390-397. View Abstract
  89. PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 2020 01; 6(2):eaax9852. View Abstract
  90. 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
  91. Utility of Genomic Testing after Renal Biopsy. Am J Nephrol. 2020; 51(1):43-53. View Abstract
  92. 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
  93. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020 01; 182(1):229-249. View Abstract
  94. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293. View Abstract
  95. 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
  96. 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
  97. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A. 2019 10; 179(10):2112-2118. View Abstract
  98. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Pediatr Rheumatol Online J. 2019 Jul 30; 17(1):52. View Abstract
  99. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889. View Abstract
  100. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. View Abstract
  101. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View Abstract
  102. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney Int. 2019 08; 96(2):320-326. View Abstract
  103. 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
  104. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatr Nephrol. 2019 09; 34(9):1607-1613. View Abstract
  105. 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
  106. 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
  107. 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
  108. 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
  109. 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
  110. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney Int. 2019 05; 95(5):1079-1090. View Abstract
  111. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2019 03 01; 34(3):474-485. View Abstract
  112. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View Abstract
  113. 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
  114. 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
  115. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928. View Abstract
  116. Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice. J Am Soc Nephrol. 2019 Mar; 30(3):393-405. View Abstract
  117. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Abstract
  118. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 01 03; 104(1):45-54. View Abstract
  119. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 01; 51(1):117-127. View Abstract
  120. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Orphanet J Rare Dis. 2018 12 17; 13(1):226. View Abstract
  121. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. View Abstract
  122. 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
  123. 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
  124. Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. Zebrafish. 2018 10; 15(5):445-453. View Abstract
  125. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018 11; 176(11):2460-2465. View Abstract
  126. 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
  127. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. View Abstract
  128. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiol Rep. 2018 06; 6(12):e13715. View Abstract
  129. 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
  130. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 05 17; 9(1):1960. View Abstract
  131. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genet. 2018 03; 14(3):e1007316. View Abstract
  132. 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
  133. 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
  134. 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
  135. 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
  136. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 12 07; 101(6):1034. View Abstract
  137. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol. 2017 Dec 07; 12(12):1974-1983. View Abstract
  138. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View Abstract
  139. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. View Abstract
  140. 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
  141. Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 12 01; 127(12):4257-4269. View Abstract
  142. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View Abstract
  143. Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. Mamm Genome. 2017 12; 28(11-12):498-514. View Abstract
  144. 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
  145. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet A. 2017 Oct; 173(10):2697-2702. View Abstract
  146. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. View Abstract
  147. 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
  148. 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
  149. 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
  150. 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
  151. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet. 2017 Apr 06; 100(4):666-675. View Abstract
  152. Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Mar 01; 9(3). View Abstract
  153. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2017 Jul; 32(7):1181-1192. View Abstract
  154. 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
  155. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):372. View Abstract
  156. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. View Abstract
  157. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):323-333. View Abstract
  158. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. J Am Soc Nephrol. 2017 May; 28(5):1521-1533. View Abstract
  159. Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. Semin Nephrol. 2016 11; 36(6):448. View Abstract
  160. Genetics of Kidney Diseases. Semin Nephrol. 2016 11; 36(6):472-474. View Abstract
  161. 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
  162. 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
  163. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. View Abstract
  164. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. PLoS One. 2016; 11(5):e0156081. View Abstract
  165. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 06 02; 98(6):1228-1234. View Abstract
  166. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. View Abstract
  167. 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
  168. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. J Am Soc Nephrol. 2016 Dec; 27(12):3552-3559. View Abstract
  169. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun. 2016 Feb 24; 7:10822. View Abstract
  170. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr; 48(4):457-65. View Abstract
  171. 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
  172. 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
  173. 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
  174. 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
  175. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol. 2016 Mar; 12(3):133-46. View Abstract
  176. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. J Med Genet. 2016 Mar; 53(3):208-14. View Abstract
  177. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell. 2015 Dec 03; 163(6):1484-99. View Abstract
  178. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant. 2016 11; 31(11):1802-1813. View Abstract
  179. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 2016 Jan; 53(1):62-72. View Abstract
  180. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 2015 Oct 21; 6:8666. View Abstract
  181. 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
  182. Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders. Nat Rev Nephrol. 2015 Nov; 11(11):635-6. View Abstract
  183. 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
  184. 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
  185. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat. 2015 Nov; 36(11):1021-8. View Abstract
  186. 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
  187. 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
  188. 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
  189. 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
  190. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602. View Abstract
  191. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun; 125(6):2375-84. View Abstract
  192. 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
  193. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 2015 Apr 13; 209(1):129-42. View Abstract
  194. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis. 2015 Mar; 9(2):119-25. View Abstract
  195. 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
  196. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015 Mar; 52(3):147-56. View Abstract
  197. Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 08; 96(1):153-61. View Abstract
  198. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 08; 96(1):81-92. View Abstract
  199. 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
  200. Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. PLoS Genet. 2014 Oct; 10(10):e1004594. View Abstract
  201. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 2015 Mar; 26(3):543-51. View Abstract
  202. SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. Neuron. 2014 Aug 20; 83(4):805-22. View Abstract
  203. Diverse phenotypic expression of NPHP4 mutations in four siblings. Turk J Pediatr. 2014 Jul-Aug; 56(4):423-6. View Abstract
  204. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 05; 94(6):905-14. View Abstract
  205. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 05; 94(6):884-90. View Abstract
  206. 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
  207. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. J Am Soc Nephrol. 2014 Nov; 25(11):2573-83. View Abstract
  208. 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
  209. Pediatric kidney disease: tracking onset and improving clinical outcomes. Clin J Am Soc Nephrol. 2014 Jun 06; 9(6):1141-3. View Abstract
  210. 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
  211. 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
  212. 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
  213. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec; 123(12):5179-89. View Abstract
  214. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int. 2014 Apr; 85(4):880-7. View Abstract
  215. 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
  216. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest. 2013 Aug; 123(8):3243-53. View Abstract
  217. Karyomegalic interstitial nephritis. Lancet. 2013 Dec 21; 382(9910):2093. View Abstract
  218. 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
  219. 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
  220. 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
  221. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol. 2013 Feb; 24(3):377-84. View Abstract
  222. The Case. Unusual cause of chronic renal failure with elevated liver enzymes. Kidney Int. 2012 Dec; 82(11):1239-40. View Abstract
  223. 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
  224. 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
  225. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract. 2012; 120(3):c139-46. View Abstract
  226. Integrin a3 mutations with kidney, lung, and skin disease. N Engl J Med. 2012 Apr 19; 366(16):1508-14. View Abstract
  227. Inducible podocyte injury and proteinuria in transgenic zebrafish. J Am Soc Nephrol. 2012 Jun; 23(6):1039-47. View Abstract
  228. 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
  229. 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
  230. Spectrum of clinical diseases caused by disorders of primary cilia. Proc Am Thorac Soc. 2011 Sep; 8(5):444-50. View Abstract
  231. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Jul 03; 43(8):776-84. View Abstract
  232. Centrosomes and cilia in human disease. Trends Genet. 2011 Aug; 27(8):307-15. View Abstract
  233. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13; 145(4):513-28. View Abstract
  234. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May; 121(5):2013-24. View Abstract
  235. Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. Pediatr Nephrol. 2011 Jul; 26(7):1157-61. View Abstract
  236. 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
  237. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96. View Abstract
  238. 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
  239. Characterization of mesonephric development and regeneration using transgenic zebrafish. Am J Physiol Renal Physiol. 2010 Nov; 299(5):F1040-7. View Abstract
  240. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat. 2010 Sep; 31(9):992-1002. View Abstract
  241. 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
  242. Nephronophthisis. Pediatr Nephrol. 2011 Feb; 26(2):181-94. View Abstract
  243. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis. 2010 Jul 17; 16:1373-81. View Abstract
  244. Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol. 2010 Sep; 5(9):1655-62. View Abstract
  245. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010 Jul; 42(7):619-25. View Abstract
  246. Nephrocystin-3 is required for ciliary function in zebrafish embryos. Am J Physiol Renal Physiol. 2010 Jul; 299(1):F55-62. View Abstract
  247. Genetic kidney diseases. Lancet. 2010 Apr 10; 375(9722):1287-95. View Abstract
  248. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010 Mar; 120(3):791-802. View Abstract
  249. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet. 2010 May 15; 19(10):1985-97. View Abstract
  250. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet. 2010 Feb; 42(2):175-80. View Abstract
  251. A novel TRPC6 mutation that causes childhood FSGS. PLoS One. 2009 Nov 10; 4(11):e7771. View Abstract
  252. Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome. Pediatr Nephrol. 2010 Feb; 25(2):261-6. View Abstract
  253. HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res. 2009 Jul; 37(Web Server issue):W593-9. View Abstract
  254. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 Jun; 41(6):739-45. View Abstract
  255. Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. Kidney Int. 2009 Apr; 75(7):669-71. View Abstract
  256. Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish. Gene Expr Patterns. 2009 Jun; 9(5):282-8. View Abstract
  257. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008 Nov; 74(9):1139-49. View Abstract
  258. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2008 Sep; 23(9):1455-60. View Abstract
  259. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant. 2008 Nov; 23(11):3527-33. View Abstract
  260. Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol. 2008 Sep; 23(9):1483-93. View Abstract
  261. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochem Biophys Res Commun. 2008 Jul 11; 371(4):877-82. View Abstract
  262. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008 Feb; 19(2):365-71. View Abstract
  263. Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant. 2008 Feb; 23(2):777-9. View Abstract
  264. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant. 2008 Apr; 23(4):1291-7. View Abstract
  265. Eye involvement in children with primary focal segmental glomerulosclerosis. Pediatr Nephrol. 2008 Mar; 23(3):421-7. View Abstract
  266. Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. Am J Physiol Renal Physiol. 2008 Jan; 294(1):F93-9. View Abstract
  267. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 2007 Aug; 39(8):1018-24. View Abstract
  268. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul; 39(7):875-81. View Abstract
  269. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007 Jun; 18(6):1855-71. View Abstract
  270. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007 Apr; 119(4):e907-19. View Abstract
  271. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol. 2007 Apr; 22(4):509-13. View Abstract
  272. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006 Dec; 38(12):1397-405. View Abstract
  273. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2007 Jan; 2(1):31-7. View Abstract
  274. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006 Jun; 38(6):674-81. View Abstract
  275. Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res. 2006 Feb; 59(2):325-31. View Abstract
  276. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005 Mar; 37(3):282-8. View Abstract
  277. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis. 2005 Jan; 45(1):77-87. View Abstract
  278. Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. Nephrol Dial Transplant. 2004 Dec; 19(12):3172-5. View Abstract
  279. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol. 2004 Dec; 19(12):1340-8. View Abstract
  280. Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis. 2004 Oct; 44(4):611-7. View Abstract
  281. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int. 2004 Aug; 66(2):564-70. View Abstract
  282. NPHS2 mutation associated with recurrence of proteinuria after transplantation. Pediatr Nephrol. 2004 May; 19(5):561-4. View Abstract
  283. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol. 2004 Mar; 15(3):722-32. View Abstract
  284. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet. 2003 Aug; 34(4):455-9. View Abstract
  285. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003 Aug; 34(4):413-20. View Abstract
  286. A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. J Am Soc Nephrol. 2003 Jun; 14(6):1519-22. View Abstract
  287. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int. 2002 Oct; 62(4):1385-94. View Abstract
  288. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2002 Feb; 13(2):388-393. View Abstract
  289. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet. 2002 Feb; 30(2):143-4. View Abstract
  290. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001 Nov 29; 414(6863):558-61. View Abstract
  291. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov; 29(3):310-4. View Abstract
  292. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? J Am Soc Nephrol. 2001 Nov; 12(11):2348-2357. View Abstract
  293. Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J Am Soc Nephrol. 2001 Feb; 12(2):374-378. View Abstract
  294. Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol. 2001 Jan; 12(1):107-113. View Abstract
  295. Molecular genetics of nephronophthisis and medullary cystic kidney disease. J Am Soc Nephrol. 2000 Sep; 11(9):1753-1761. View Abstract
  296. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol. 2000 Aug; 11(8):1449-1459. View Abstract
  297. Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. J Am Soc Nephrol. 2000 Feb; 11(2):270-282. View Abstract
  298. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet. 1997 Oct; 17(2):149-53. View Abstract
  299. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet. 1993 Apr; 3(4):342-5. View Abstract

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