Coming sooner than later...

A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes 

A selective PYCR1 inhibitor reverses metabolic rewiring and blunts tumorigenesis in liver cancer

Monozygotic twinning in mammals (review)

VEGFC is de-arginated by Carboxypeptidase D to permit lymphangiogenesis

Inactivation of ZC3H15 causes a Recessive Neurodevelopmental Disorder due to impaired mRNA translation 

2025

American Journal of Human Genetics

Loss of FBXO22 results in pleiotropic syndrome of growth restriction associated with a unique epigenetic signature

Nature Genetics
Genomics of rare diseases in the Greater Middle East.

American Journal of Human Genetics

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

2024

Genetics in Medicine
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Human reproduction

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

Human molecular genetics
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish

2024

Genetics in Medicine
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Human reproduction

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

Human molecular genetics
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish

2023

Nucleic Acids Research

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype

eLife

The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death

Genetics in Medicine
Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

EMBO Molecular Medicine
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

EMBO Molecular Medicine
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing

2022

BJD Commentary
Current understanding of the phenotypic spectrum of patients with NLRP1 variants

British Journal of Dermatology
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings

Nature Communications
INTS13-deficiency disrupts the INTEGRATOR complex causing a ciliopathy

Science Immunology
DPP9-deficiency is a NLRP1-dependant inflammasopathy

Nature Reviews Gastroenterology & Hepatology. 

New insights into aetiology of paediatric liver cirrhosis.

Nature MiddleEast. 

Genetic link for childhood liver disease.

EurekAlerts!|AAAS. 

Mutations in novel gene found to be responsible for severe liver disease  in children

Nature Genetics
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Phys.Org
Study highlights the role of genes inherited from mothers in children's genetic diseases

ThePrint
New clues on unsolved genetic diseases in children

Nature Communications
HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

NewsMedical  LifeSciences
Researchers identify the genetic causes of three mitochondrial diseases using new approach

Science
Gene pinpointed that helps put human hearts in the right place

EurekAlerts!|AAAS

Scientists discover and name novel gene that governs left-right asymmetry within the human body 

Nature Genetics
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates

2021

The NEW ENGLAND JOURNAL of MEDICINE
A Human Pleiotropic Multiorgan Condition Caused by Deficient WNT Secretion

Nature
Genomics reveals a simple cause for newborns’ complex illness

EurekAlerts! |  AAAS
Researchers discover potential treatment for orphan paediatric condition

MEDPAGE TODAY
Previously Unexplained Birth Defects Rooted in Genetic Mutations

ANI
Study: New unknown childhood genetic condition discovered along with its potential cure

SciTechDaily
Zaki Syndrome: Scientists Discover Unknown Childhood Genetic Condition and Its Potential Cure

NEWS-MEDICAL
Researchers find potential cure for a previously unknown childhood genetic condition

ScienceDaily
Researchers discover unknown childhood genetic condition and its potential cure

Yahoo!Finance
CENTOGENE’s Ground-Breaking Family Genetic Research Published in the New England Journal of Medicine Reveals Path to Potential Cure for Structural Birth Defects

Nature Communications
Identical twins carry a persistent epigenetic signature of early genome programming

NATIONAL GEOGRAPHICS
¿Dónde está mi hermano gemelo?

MIRAGE
New leads in research into origin of identical twins

NewScientist
DNA markers reveal if you shared a womb with twin that didn't survive

LIVESCIENCE
Did you share the womb with a 'vanishing twin'? The answer may be written in your DNA.

genomeweb
Identical Twins Carry Lifelong Epigenetic Signature Reflecting Early Genomic Events

Nature Communications
Somatic genetic rescue of a germline ribosome assembly defect

AJHG
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish
that evokes a glycogen storage-associated mitochondriopathy.

A*STAR Research
NLRP1: How the body senses the common cold virus. 

A*STAR Research
Providing closure in anencephaly research. 

PNAS
Inherited deficiency of ZNFX1 in patients with monocytosis and mycobacterial disease.

medRxiv
Dpp9 Deficiency: an inflammasomopathy which can be rescued by lowering Nlrp1/Il-1 signalling

Molecular Cell
NLRP1: a jack of all trades, or a master of one? D. Bachovchin

British Journal of Dermatology
Huriez Syndrome caused by a large SMARCAD1 deletion

Nature Communications
The structure of the CARD8 and NLRP1 signalosome

Advanced Science
Neural tubes in a dish

2020

Science. A ligand is located, at long last! Seth T. Scanlon

YouTube / Channel News Asia.
Singapore scientists discover role of NLRP1 protein in detecting common cold virus. 

MedicalXpress/BioSpectrum/ScienceDaily.

Singapore discovers role of protein in detecting common cold virus.

The Straits Times. Siblings in Singapore are first known cases of rare genetic disease       

EurekAlert|AAAS.  KKH & A*STAR identify first Jamuar Syndrome case worldwide       

Neuron.  PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye 

2019

Lancet. Reducing maternal mortality: can Elabela help in this fight?

2018

Nature. Rethinking WNT signalling

NatureAsia. Independent role of RSPO2 in limb development

2017

The Scientist. Anti-Preeclampsia Hormone Discovered 

Nature Genetics. Many faces of SMCHD1

AsianScientist. Gene Involved In Nose Formation Found

AsianScientist. Gene Variants That Increase Chance Of Non-Identical Twins Identified

2016

The Straits Times. Team sheds light on what causes skin cancer

ChannelNewsAsia. Ground Zero, Zika outbreak

2015

AsianScientist. Asia’s Scientific Trailblazers: Bruno Reversade

The Straits Times. A*Star grant helps doctor travel the world to hunt down rare diseases

The Straits Times. Tracking mutated genes that wreak havoc