Area of research
Molecular Biology · Cell Biology
Research interest
Research interests include Microtubule and mitosis dynamics, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, and Mitochondrial Function and Pathology.
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Genomic and phenotypic delineation of congenital microcephaly
<i>PSMD12</i> haploinsufficiency in a neurodevelopmental disorder with autistic features
Expanding the clinical spectrum of biallelic <i>ZNF335</i> variants
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
Loss of PCLO function underlies pontocerebellar hypoplasia type III
Somatic Mutations in Cerebral Cortical Malformations
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
METTL23, a transcriptional partner of GABPA, is essential for human cognition
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy
Deletions in <i>GRID2</i> lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development