Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Isabelle Maystadt | Researchclopedia

Back to researchers

Isabelle Maystadt

112

Works

4,154

Citations

32

h-index

57

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Affiliations

University of Parma2012–2012

Hôpital Necker-Enfants Malades2004–2007

Centre National de la Recherche Scientifique2006–2006

University of Namur2016–2025

Inserm2004–2007

Top Works

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer,Bernard Grisart,et al.

2011376 citations

Neurogenetic and Muscular Disorders Research

Chromatin Remodeling and Cancer

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa,Liesbeth Rooms,et al.

2009218 citations

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen,Emmelien Aten,et al.

2013218 citations

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli,Erik‐Jan Kamsteeg,et al.

2012210 citations

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska,Yunjia Chen,et al.

2017205 citations

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

Alessia Indrieri,Vanessa Alexandra van Rahden,et al.

2012170 citations

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański,Tomasz Gambin,et al.

2016168 citations

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers,Giada Tortora,et al.

2018162 citations

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

Przemysław Szafrański,Avinash V. Dharmadhikari,et al.

2012159 citations