Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, and Congenital heart defects research.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
DLG4-related synaptopathy: a new rare brain disorder
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome