Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genetics and Dystonia, with related work in Exome sequencing, Genotyping, Heteroplasmy. Notable publications include 'Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease', 'ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions', and 'Germline selection shapes human mitochondrial DNA diversity'.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Personal journeys to and in human genetics and dysmorphology
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Germline selection shapes human mitochondrial DNA diversity
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Psychiatric disorders in children with 16p11.2 deletion and duplication
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
SYT1-associated neurodevelopmental disorder: a case series
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Detailed Clinical Phenotype and Molecular Genetic Findings in <i>CLN3</i>-Associated Isolated Retinal Degeneration
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Specific Alleles of <i>CLN7</i> / <i>MFSD8</i> , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>