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Related Research Units

Nephrology Research

Publications

  1. Phenotypic quantification of Nphs1-deficient mice. J Nephrol. 2024 Jul 14. View Abstract
  2. 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
  3. Correction to: Phenotypic quantification of Nphs1-deficient mice. J Nephrol. 2024 Jul; 37(6):1723. View Abstract
  4. Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. Pediatr Nephrol. 2024 Oct; 39(10):2939-2945. View Abstract
  5. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. View Abstract
  6. Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease. Res Sq. 2024 Apr 11. View Abstract
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
  14. 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
  15. 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
  16. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Abstract
  17. 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
  18. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. View Abstract
  19. 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
  20. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1). View Abstract
  21. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View Abstract
  22. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View Abstract
  23. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View Abstract
  24. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Abstract
  25. Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation. Ann Transl Med. 2020 Mar; 8(6):330. View Abstract
  26. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. J Am Soc Nephrol. 2019 12; 30(12):2338-2353. View Abstract
  27. Procalcitonin in hemodialysis patients presenting with fever or chills to the emergency department. Intern Emerg Med. 2020 03; 15(2):257-262. View Abstract
  28. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View Abstract
  29. 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
  30. 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
  31. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney Int. 2019 05; 95(5):1079-1090. View Abstract
  32. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2019 03 01; 34(3):474-485. View Abstract
  33. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View Abstract
  34. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928. View Abstract
  35. 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
  36. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Abstract
  37. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. View Abstract
  38. 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
  39. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018 11; 176(11):2460-2465. View Abstract
  40. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. View Abstract
  41. 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
  42. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View Abstract
  43. Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 12 01; 127(12):4257-4269. View Abstract
  44. The effect of medical students' gender, ethnicity and attitude towards poetry-reading on the evaluation of a required, clinically-integrated poetry-based educational intervention. BMC Med Educ. 2014 Sep 15; 14:188. View Abstract

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