Current Environment: Production

Medical Services

Programs & Services

Languages

  • English
  • German

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

  1. Trio exome sequencing in individuals with CAKUT identifies de novo variants in potential novel candidate genes in 19.62. Genet Med. 2025 Apr 10; 101432. View Abstract

  2. The contribution of de novo coding mutations to meningomyelocele. Nature. 2025 May; 641(8062):419-426. View Abstract

  3. Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy. bioRxiv. 2025 Jan 02. View Abstract

  4. Epigenomic and phenotypic characterization of DEGCAGS syndrome. Eur J Hum Genet. 2024 Dec; 32(12):1574-1582. View Abstract

  5. Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics. Kidney Med. 2024 Dec; 6(12):100910. View Abstract

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

  7. 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

  8. Genetic Contributions to Lower Urinary Tract Dysfunction. Am J Med Genet A. 2025 Jan; 197(1):e63859. View Abstract

  9. The evolving landscape of monogenic nephrolithiasis and therapeutic innovations. Nat Rev Urol. 2024 09; 21(9):513-514. View Abstract

  10. 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

  11. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. Front Endocrinol (Lausanne). 2024; 15:1424819. View Abstract

  12. Phenotypic quantification of Nphs1-deficient mice. J Nephrol. 2025 Jan; 38(1):143-152. View Abstract

  13. 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

  14. Correction to: Phenotypic quantification of Nphs1-deficient mice. J Nephrol. 2024 Jul; 37(6):1723. View Abstract

  15. Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. Pediatr Nephrol. 2024 Oct; 39(10):2939-2945. View Abstract

  16. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract

  17. Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders. bioRxiv. 2024 May 29. View Abstract

  18. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract

  19. Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. Res Sq. 2024 Apr 11. View Abstract

  20. 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

  21. 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

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

  23. 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

  24. 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

  25. 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

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

  27. Nephronophthisis: a pathological and genetic perspective. Pediatr Nephrol. 2024 Jul; 39(7):1977-2000. View Abstract

  28. 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

  29. 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

  30. 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

  31. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract

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

  33. The genetics and pathogenesis of CAKUT. Nat Rev Nephrol. 2023 11; 19(11):709-720. View Abstract

  34. 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

  35. LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus. Cell Commun Signal. 2023 06 16; 21(1):142. View Abstract

  36. Recessive CHRM5 variant as a potential cause of neurogenic bladder. Am J Med Genet A. 2023 08; 191(8):2083-2091. View Abstract

  37. 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

  38. 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

  39. Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). medRxiv. 2023 Mar 22. View Abstract

  40. 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

  41. 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

  42. 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

  43. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genet Med. 2023 03; 25(3):100351. View Abstract

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 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

  54. 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

  55. 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

  56. 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

  57. 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

  58. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Abstract

  59. 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

  60. 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

  61. 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

  62. Deep learning is widely applicable to phenotyping embryonic development and disease. Development. 2021 11 01; 148(21). View Abstract

  63. 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

  64. 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

  65. Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Sci Rep. 2021 09 14; 11(1):18274. View Abstract

  66. 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

  67. 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

  68. 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

  69. Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. Front Immunol. 2021; 12:624821. View Abstract

  70. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 08; 148(2):381-393. View Abstract

  71. 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

  72. 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

  73. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. View Abstract

  74. 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

  75. 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

  76. 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

  77. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1). View Abstract

  78. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View Abstract

  79. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View Abstract

  80. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View Abstract

  81. Loss of Anks6 leads to YAP deficiency and liver abnormalities. Hum Mol Genet. 2020 11 04; 29(18):3064-3080. View Abstract

  82. 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

  83. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Abstract

  84. Podocytopathies. Nat Rev Dis Primers. 2020 08 13; 6(1):68. View Abstract

  85. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 07; 58(7):453-464. View Abstract

  86. Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. Kidney Int. 2020 10; 98(4):958-969. View Abstract

  87. 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

  88. 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

  89. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. J Inherit Metab Dis. 2020 09; 43(5):1131-1142. View Abstract

  90. PLCE1 regulates the migration, proliferation, and differentiation of podocytes. Exp Mol Med. 2020 04; 52(4):594-603. View Abstract

  91. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. 2020 03 01; 35(3):390-397. View Abstract

  92. PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 2020 01; 6(2):eaax9852. View Abstract

  93. 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

  94. Utility of Genomic Testing after Renal Biopsy. Am J Nephrol. 2020; 51(1):43-53. View Abstract

  95. 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

  96. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020 01; 182(1):229-249. View Abstract

  97. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293. View Abstract

  98. 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

  99. 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

  100. 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

  101. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Pediatr Rheumatol Online J. 2019 Jul 30; 17(1):52. View Abstract

  102. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889. View Abstract

  103. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. View Abstract

  104. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View Abstract

  105. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney Int. 2019 08; 96(2):320-326. View Abstract

  106. 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

  107. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatr Nephrol. 2019 09; 34(9):1607-1613. View Abstract

  108. 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

  109. 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

  110. 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

  111. 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

  112. 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

  113. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney Int. 2019 05; 95(5):1079-1090. View Abstract

  114. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2019 03 01; 34(3):474-485. View Abstract

  115. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View Abstract

  116. 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

  117. 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

  118. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928. View Abstract

  119. 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

  120. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Abstract

  121. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am J Hum Genet. 2019 01 03; 104(1):45-54. View Abstract

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

  123. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Orphanet J Rare Dis. 2018 12 17; 13(1):226. View Abstract

  124. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. View Abstract

  125. 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

  126. 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

  127. Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. Zebrafish. 2018 10; 15(5):445-453. View Abstract

  128. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018 11; 176(11):2460-2465. View Abstract

  129. 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

  130. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. View Abstract

  131. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiol Rep. 2018 06; 6(12):e13715. View Abstract

  132. 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

  133. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 05 17; 9(1):1960. View Abstract

  134. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genet. 2018 03; 14(3):e1007316. View Abstract

  135. 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

  136. 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

  137. 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

  138. 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

  139. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 12 07; 101(6):1034. View Abstract

  140. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol. 2017 Dec 07; 12(12):1974-1983. View Abstract

  141. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View Abstract

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

  143. 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

  144. Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 12 01; 127(12):4257-4269. View Abstract

  145. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View Abstract

  146. Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. Mamm Genome. 2017 12; 28(11-12):498-514. View Abstract

  147. 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

  148. 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

  149. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. View Abstract

  150. 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

  151. 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

  152. 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

  153. 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

  154. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet. 2017 Apr 06; 100(4):666-675. View Abstract

  155. Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Mar 01; 9(3). View Abstract

  156. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2017 Jul; 32(7):1181-1192. View Abstract

  157. 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

  158. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):372. View Abstract

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

  160. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 02 02; 100(2):323-333. View Abstract

  161. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. J Am Soc Nephrol. 2017 May; 28(5):1521-1533. View Abstract

  162. Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. Semin Nephrol. 2016 11; 36(6):448. View Abstract

  163. Genetics of Kidney Diseases. Semin Nephrol. 2016 11; 36(6):472-474. View Abstract

  164. 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

  165. 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

  166. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 07 27; 48(8):970. View Abstract

  167. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. PLoS One. 2016; 11(5):e0156081. View Abstract

  168. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 06 02; 98(6):1228-1234. View Abstract

  169. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 06; 48(6):648-56. View Abstract

  170. 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

  171. A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. J Am Soc Nephrol. 2016 Dec; 27(12):3552-3559. View Abstract

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