Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Blood disorders and treatments.
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
The different clinical facets of SYN1-related neurodevelopmental disorders
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Monogenic variants in dystonia: an exome-wide sequencing study
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
POGZ truncating alleles cause syndromic intellectual disability
Molecular diagnostic experience of whole-exome sequencing in adult patients
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a