Ronen Schneider

发表

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

S. Mane, S. Bauer, V. Tasic, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

S. Mane, R. Lifton, V. Tasic, 2018, Clinical journal of the American Society of Nephrology : CJASN.

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Thomas M. Kitzler, S. Mane, R. Lifton, 2019, Journal of the American Society of Nephrology : JASN.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, American journal of human genetics.

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kristen M. Laricchia, D. MacArthur, S. Mane, 2019, Journal of the American Society of Nephrology : JASN.

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.

F. Hildebrandt, S. Ashraf, Caroline M. Kolvenbach, 2019, Kidney international.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Kristen M. Laricchia, D. MacArthur, H. Rehm, 2018, Journal of the American Society of Nephrology : JASN.

Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila.

F. Hildebrandt, G. Walz, Tobias Hermle, 2022, Kidney international.

Monogenic causes of chronic kidney disease in adults.

Thomas M. Kitzler, S. Mane, R. Lifton, 2019, Kidney international.

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

I. V. van Rooij, G. Kristiansen, W. Newman, 2019, American journal of human genetics.

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

S. Mane, R. Lifton, F. Hildebrandt, 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Thomas M. Kitzler, S. Mane, F. Alkuraya, 2018, The Journal of clinical investigation.

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome

Kristen M. Laricchia, M. Lek, A. Sinha, 2018, American journal of medical genetics. Part A.

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

S. Mane, S. Howden, R. Lifton, 2021, Science Advances.

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Thomas M. Kitzler, H. Rehm, Shrikant Mane, 2021, American journal of medical genetics. Part A.

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, Kidney international reports.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Thomas M. Kitzler, S. Mane, H. Rehm, 2020, Kidney international reports.

Advillin acts upstream of phospholipase C ε1 in steroid-resistant nephrotic syndrome

S. Mane, R. Lifton, A. Nayır, 2017, The Journal of clinical investigation.

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

F. Hildebrandt, S. Ashraf, Tobias Hermle, 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

Thomas M. Kitzler, S. Mane, M. Lek, 2019, Human Genetics.

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

Jeremy F. P. Ullmann, J. Ullmann, F. Hildebrandt, 2018, PloS one.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Kristen M. Laricchia, Thomas M. Kitzler, Richard S. Lee, 2018, Journal of the American Society of Nephrology : JASN.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.

F. Hildebrandt, M. Schueler, C. Clarke, 2019, Journal of the American Society of Nephrology : JASN.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation

Jianghua Chen, Hong Jiang, Jianyong Wu, 2020, Annals of translational medicine.