Publications by authors named "Gabriel Dworschak"

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is implicated in central nervous system, orofacial and maxillofacial anomalies.
Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Gabriel C Dworschak

J Med Genet· January 2025

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EZH2 specifically regulates ISL1 during embryonic urinary tract formation.
Enrico Mingardo, Jeshurun C Kalanithy, Gabriel Dworschak, Nina Ishorst, Öznur Yilmaz

Sci Rep· October 2024

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo

NPJ Genom Med· March 2024

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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates in Disease Formation.
Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Gabriel C Dworschak

Biomolecules· July 2023

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X-linked variations in are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Gabriel C Dworschak

J Med Genet· June 2023

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Modelling human lower urinary tract malformations in zebrafish.
Caroline M Kolvenbach, Gabriel C Dworschak, Johanna M Rieke, Adrian S Woolf, Heiko Reutter

Mol Cell Pediatr· March 2023

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Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Julia Fabian, Gabriel C Dworschak, Lea Waffenschmidt, Luca Schierbaum, Charlotte Bendixen

Eur J Hum Genet· January 2023

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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Gabriel C Dworschak

Commun Biol· November 2022

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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Caroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, Shirlee Shril, Marcello Scala, Gabriel C Dworschak

Am J Med Genet A· December 2021

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Genetic Counseling and Diagnostics in Anorectal Malformation.
Carlo Marcelis, Gabriel Dworschak, Ivo de Blaauw, Iris A L M van Rooij

Eur J Pediatr Surg· December 2021

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, Enrico Mingardo, Haktan B Erdem

Genet Med· September 2021

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The Role of De Novo Variants in Formation of Human Anorectal Malformations.
Gabriel C Dworschak, Iris A L M van Rooij, Heiko M Reutter

Genes (Basel)· August 2021

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Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Gabriel C Dworschak, Heiko M Reutter, Michael Ludwig

Orphanet J Rare Dis· April 2021

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Lessons Learned from CNV Analysis of Major Birth Defects.
Alina Christine Hilger, Gabriel Clemens Dworschak, Heiko Martin Reutter

Int J Mol Sci· November 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, Gabriel C Dworschak

Am J Hum Genet· October 2020

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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Romy van de Putte, Gabriel C Dworschak, Erwin Brosens, Heiko M Reutter, Carlo L M Marcelis

Front Pediatr· June 2020

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Expanding the knowledge on development of CAKUT: molecular genetics and beyond.
Gabriel C Dworschak, Heiko Reutter, Alina C Hilger

Ann Transl Med· October 2019

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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Caroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, Anna S Japp, Peggy Schuster

Am J Hum Genet· May 2019

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Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.
Gabriel C Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann

Front Pediatr· April 2018

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Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.
Gabriel C Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser

Orphanet J Rare Dis· December 2017

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Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.
Stefan Kohl, Jing Chen, Asaf Vivante, Daw-Yang Hwang, Shirlee Shril, Gabriel C Dworschak

Nephrol Dial Transplant· August 2016

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Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease.
Roslyn J Simms, Kah Mean Thong, Gabriel C Dworschak, Albert C M Ong

Nephrol Dial Transplant· July 2016

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Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Alina C Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Gabriel C Dworschak

Hum Mutat· December 2015

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Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Daw-Yang Hwang, Stefan Kohl, Xueping Fan, Asaf Vivante, Stefanie Chan, Gabriel C Dworschak

Hum Genet· August 2015

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Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.
Gabriel C Dworschak, Markus Draaken, Alina C Hilger, Charlotte Schramm, Enrika Bartels

Birth Defects Res A Clin Mol Teratol· April 2015

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