Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic and Kidney Cyst Diseases, and RNA modifications and cancer.
<i>ADAT3</i> variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Influence of autozygosity on common disease risk across the phenotypic spectrum
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
Loss-of-function variants in<i>MYCBP2</i>cause neurobehavioural phenotypes and corpus callosum defects
<scp><i>ANKLE2</i></scp>‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathy
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Mutations in <scp><i>HID1</i></scp> Cause Syndromic Infantile Encephalopathy and Hypopituitarism
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes