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R01 DK088767

Funded outputs count: 57
Funder award ID: R01 DK088767
OpenAlex ID: G576853028
Recessive CHRM5 variant as a potential cause of neurogenic bladder
2023 · Sophia Schneider, Luca Schierbaum, et al. · American Journal of Medical Genetics Part A · 4
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X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
2022 · Caroline M Kolvenbach, Tim Felger, et al. · Journal of Medical Genetics · 7
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Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract
2022 · Dervla M. Connaughton, Friedhelm Hildebrandt · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 18
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models
2022 · Chunyan Wang, Steve Seltzsam, et al. · American Journal of Medical Genetics Part A · 8
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
2021 · Steve Seltzsam, Chunyan Wang, et al. · Genetics in Medicine · 41
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract
2021 · Bixia Zheng, Chunyan Wang, et al. · American Journal of Medical Genetics Part A · 7
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Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract
2021 · Bixia Zheng, Steve Seltzsam, et al. · Nephrology Dialysis Transplantation · 10
Exome survey of individuals affected by VATER / VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
2021 · Caroline M. Kolvenbach, Amelie T. van der Ven, et al. · American Journal of Medical Genetics Part A · 14
A hemodialysis patient with difficulty ambulating: Answers
2021 · Nina Mann, Annemarie Fayemi, et al. · Pediatric Nephrology
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A hemodialysis patient with difficulty ambulating: Questions
2021 · Nina Mann, Annemarie Fayemi, et al. · Pediatric Nephrology
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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
2020 · Dervla M. Connaughton, Rufeng Dai, et al. · The American Journal of Human Genetics · 51
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DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
2020 · Jonathan Marquez, Nina Mann, et al. · Journal of Medical Genetics · 12
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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)
2020 · Chen-Han Wilfred Wu, Nina Mann, et al. · Genetics in Medicine · 24
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Utility of Genomic Testing after Renal Biopsy
2019 · Susan L. Murray, Anthony Dorman, et al. · American Journal of Nephrology · 28
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
2019 · Ingrid Paine, Jennifer E. Posey, et al. · The American Journal of Human Genetics · 104
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COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
2019 · Thomas M. Kitzler, Ronen Schneider, et al. · Human Genetics · 24
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
2019 · Caroline M. Kolvenbach, Gabriel C. Dworschak, et al. · The American Journal of Human Genetics · 47
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Monogenic causes of chronic kidney disease in adults
2019 · Dervla M. Connaughton, Claire Kennedy, et al. · Kidney International · 277
Personalized medicine in chronic kidney disease by detection of monogenic mutations
2019 · Dervla M Connaughton, Friedhelm Hildebrandt · Nephrology Dialysis Transplantation · 93
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
2019 · Nina Mann, Daniela A. Braun, et al. · Journal of the American Society of Nephrology · 157
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
2018 · Miguel Verbitsky, Rik Westland, et al. · Nature Genetics · 223
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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
2018 · Amelie T. van der Ven, Dervla M. Connaughton, et al. · Journal of the American Society of Nephrology · 204
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Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome
2018 · Jillian K. Warejko, Markus Schueler, et al. · Hypertension · 33
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
2018 · Amelie T. van der Ven, Birgit Kobbe, et al. · PLoS ONE · 8
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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
2017 · Simone Sanna-Cherchi, Kamal Khan, et al. · The American Journal of Human Genetics · 106
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