Isabelle Maystadt
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, Chromatin Remodeling and Cancer
Most-Cited Works
- → Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome(2011)376 cited
- → Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome(2009)218 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan(2012)209 cited
- → Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848(2017)205 cited
- → Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease(2012)170 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3(2018)162 cited
- → Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder(2012)159 cited
- → Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)(2014)137 cited