Area of research
Molecular Biology · Genetics
Research interest
Research interests include Connective tissue disorders research, Genetic and Kidney Cyst Diseases, Congenital heart defects research, and Inflammasome and immune disorders.
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Human NLRP1 is a sensor of pathogenic coronavirus 3CL proteases in lung epithelial cells
Direct identification of A-to-I editing sites with nanopore native RNA sequencing
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
Structural basis for distinct inflammasome complex assembly by human NLRP1 and CARD8
Somatic genetic rescue of a germline ribosome assembly defect
IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts
Identical twins carry a persistent epigenetic signature of early genome programming
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion
Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
ELABELA antagonizes intrarenal renin-angiotensin system to lower blood pressure and protects against renal injury
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis
Homozygous <i>NLRP1</i> gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis
Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Structural basis of RIP2 activation and signaling
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations