Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, and Cancer Genomics and Diagnostics.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum
GnRH replacement rescues cognition in Down syndrome
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
Human genome meeting 2016
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation
Domains of genome-wide gene expression dysregulation in Down’s syndrome
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency