Publications by authors named "Isabel Ottlewski"

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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Amar J Majmundar, Eugen Widmeier, John F Heneghan, Ankana Daga, Chen-Han Wilfred Wu, Isabel Ottlewski

Genet Med· March 2023

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Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Isabel Ottlewski

Eur Urol Open Sci· October 2022

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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Steve Seltzsam, Chunyan Wang, Bixia Zheng, Nina Mann, Dervla M Connaughton, Isabel Ottlewski

Genet Med· February 2022

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Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz

BMC Med Genomics· November 2021

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Recessive variants impair actin remodeling and cause glomerulopathy in humans and mice.
Amar J Majmundar, Florian Buerger, Thomas A Forbes, Verena Klämbt, Ronen Schneider, Isabel Ottlewski

Sci Adv· January 2021

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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M Connaughton, Rufeng Dai, Isabel Ottlewski

Genet Med· October 2020

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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Dervla M Connaughton, Rufeng Dai, Danielle J Owen, Jonathan Marquez, Nina Mann, Isabel Ottlewski

Am J Hum Genet· October 2020

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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
Tilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, John F Heneghan, Amar J Majmundar, Isabel Ottlewski

Kidney Int· March 2020

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Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Isabel Ottlewski, Johannes Münch, Timo Wagner, Ria Schönauer, Anette Bachmann

Kidney Int· July 2019

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