Search filters

List of works by Erwin Brosens

A combined literature and in silico analysis enlightens the role of the NDRG family in the gut

scientific article published on 07 July 2018

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

scientific article published in February 2016

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

scientific article

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

scientific article published on 25 May 2012

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts ⬇️

scientific article published on November 9, 2011

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

scientific article

Do RET somatic mutations play a role in Hirschsprung disease?

scientific article published on 01 November 2018

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

scientific article

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs

scientific article published on 04 August 2020

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing

scientific article published on 30 December 2020

Genetics of enteric neuropathies.

scientific article published on 14 July 2016

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

scientific article published on 17 November 2020

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

scientific article published on 27 March 2018

Increased incidence of hypertrophic pyloric stenosis in esophageal atresia patients.

scientific article

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

scientific article published on 16 April 2020

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

scientific article published on 9 July 2018

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.

scientific article

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

scientific article published on 7 June 2017

Maternal risk associated with the VACTERL association: A case-control study

scientific article published on 22 July 2020

More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.

scientific article published on 16 March 2016

Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System

scientific article published on 02 January 2019

Nimbus: a design-driven analyses suite for amplicon-based NGS data

scholarly article by R W W Brouwer published in August 2018

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

SNPitty: An intuitive web-application for interactive B-allele frequency and copy-number visualization of next-generation sequencing data

scientific article published on 2 January 2018

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

scientific article

Spliceosome Mutations in Uveal Melanoma

scientific article published on 15 December 2020

Structural and numerical changes of chromosome X in patients with esophageal atresia

scientific article

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations ⬇️

scientific article published on February 1, 2013

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

scientific article published on 23 October 2013

Paulina is supported by:

About Paulina

Help