Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer, and Genomic variations and chromosomal abnormalities.
Functional <i>EPAS1</i> / <i>HIF2A</i> missense variant is associated with hematocrit in Andean highlanders
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy
ALKBH5 Inhibits Pancreatic Cancer Motility by Decreasing Long Non-Coding RNA KCNK15-AS1 Methylation
Genetics of intellectual disability in consanguineous families
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Effect of inbreeding on intellectual disability revisited by trio sequencing
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes
Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders
XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Redefining the MED13L syndrome
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Relationship Estimation from Whole-Genome Sequence Data
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Combined Proteomic and Transcriptomic Interrogation of the Venom Gland of Conus geographus Uncovers Novel Components and Functional Compartmentalization
Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers
<i>NDST1</i> missense mutations in autosomal recessive intellectual disability
TBX3 Regulates Splicing In Vivo: A Novel Molecular Mechanism for Ulnar-Mammary Syndrome
<i>In Vivo</i>Determination of Direct Targets of the Nonsense-Mediated Decay Pathway in<i>Drosophila</i>
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
VAAST 2.0: Improved Variant Classification and Disease‐Gene Identification Using a Conservation‐Controlled Amino Acid Substitution Matrix
Modeling Clear Cell Sarcomagenesis in the Mouse: Cell of Origin Differentiation State Impacts Tumor Characteristics
Clinical and neurocognitive characterization of a family with a novel <i>MED12</i> gene frameshift mutation
Early Frameshift Mutation in<i>PIGA</i>Identified in a Large XLID Family Without Neonatal Lethality
Characterization of the peptidylglycine α-amidating monooxygenase (PAM) from the venom ducts of neogastropods, Conus bullatus and Conus geographus
Mutation of plasma membrane Ca <sup>2+</sup> ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca <sup>2+</sup> homeostasis
Elucidation of the molecular envenomation strategy of the cone snail Conus geographus through transcriptome sequencing of its venom duct