Bruno Reversade

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

This study identifies a dominant CIDEC variant causing familial obesity by increasing lipid droplet size in adipocytes through structural and functional changes.

D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohorts

This paper develops D4Z4End2End, a workflow using long-read sequencing to characterize D4Z4 macrosatellite genetics and methylation in FSHD, BAMS, and reference cohorts, revealing new variants and methylation patterns.

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.

MMP21 behaves as a fluid flow transported morphogen to impart laterality during development

The paper identifies MMP21 as a morphogen transported by leftward fluid flow to specify left-sided development in Xenopus embryos, revealing its role in heterotaxy.

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

This study identifies a mutation in SMCHD1 that enhances gene silencing and disrupts developmental processes, revealing distinct roles of SMCHD1 in chromatin structure and gene regulation.

PYCR1 Levels Track with Premature and Chronological Skin Aging

The paper investigates PYCR1 levels in skin aging, finding they decrease with both induced and chronological aging in human skin.

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

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

This study identifies DPP9 deficiency as a Mendelian disorder causing inflammasome hyperactivity, which can be rescued by reducing NLRP1/IL-1 signaling in mice.

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

R-SPONDIN2+ Mesenchymal Cells Form the Bud Tip Progenitor Niche During Human Lung Development

The paper identifies R-SPONDIN2-expressing mesenchymal cells as a niche for lung bud tip progenitors using single-cell RNA sequencing and functional experiments.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

Ermin deficiency as an inside-out model of inflammatory dysmyelination

This study shows that Ermin deficiency causes myelin abnormalities and inflammation, leading to neurological deficits and increased susceptibility to demyelination, suggesting it as an 'inside-out' model for inflammatory dysmyelination.

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

A germline RAF1 mutation causes a neonatal lethal progeroid syndrome, highlighting RTK signaling's role in human development.

Omics profiling identifies MAPK/ERK pathway as a gatekeeper of nephron progenitor metabolism

The paper identifies the MAPK/ERK pathway as critical for nephron progenitor metabolism, showing its role in energy and nucleotide biosynthesis, glycolysis, and proline metabolism.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome

The paper investigates SMCHD1's role in two genetic syndromes, showing it regulates chromatin and gene expression through DNA methylation and chromatin organization.

Leveraging complex interactions between signaling pathways involved in liver development to robustly improve the maturity and yield of pluripotent stem cell-derived hepatocytes

Paracrine and autocrine R-spondin signalling is essential for the maintenance and differentiation of renal stem cells

This study shows that RSPO1 and RSPO3 are essential for WNT/β-catenin signaling in kidney development, with their deletion causing loss of renal progenitors and failure of MET.

DPP9 is an endogenous and direct inhibitor of the NLRP1 inflammasome that guards against human auto-inflammatory diseases

This study identifies DPP9 as an endogenous inhibitor of the NLRP1 inflammasome, showing its role in preventing auto-inflammatory diseases through regulation of NLRP1 activity.

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

This paper improves causal variant identification in exome sequencing for monogenic disorders by incorporating ancestry information to reduce false negatives and improve variant filtering.