Area of research
Genetics · Neurology
Research interest
Research focused on Exome sequencing and Microcephaly, with related work in Chromatin remodeling, Genetics, Microvillus. Notable publications include 'Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability', 'Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease', and 'De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms'.
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing
Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup
Partner-independent fusion gene detection by multiplexed CRISPR/Cas9 enrichment and long-read Nanopore sequencing
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
Joubert syndrome: genotyping a Northern European patient cohort
Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in <i>COL5A1</i>
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
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