Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Cancer Genomics and Diagnostics.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity
<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
Recommendations for whole genome sequencing in diagnostics for rare diseases
A de novo paradigm for male infertility
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Population sequencing data reveal a compendium of mutational processes in the human germ line
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Lack of evidence for a role of PIWIL1 variants in human male infertility
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Integrated gene analyses of <i>de novo</i> mutations from 46,612 trios with autism and developmental disorders
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
<i>BAZ2B</i> haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder