Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity #RareDisease #Genetics #morbidgene www.biorxiv.org/content/10.1...

Loeys-Dietz Syndrome: 2026 updated care management primer Loeys-Dietz Syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to M…

Loeys-Dietz Syndrome: 2026 updated care management primer #RareDisease #Genetics www.sciencedirect.com/science/arti...

New genotype-phenotype correlations and management recommendations for individuals with RERE variants To define the phenotypic spectrum and genotype–phenotype correlations associated with pathogenic RERE variants and inform clinical management and gene…

New genotype-phenotype correlations and management recommendations for individuals with RERE variants #RareDisease #Genetics www.sciencedirect.com/science/arti...

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease We report CHCHD4 deficiency as a new cause of dysregulated mitochondrial protein import resulting in a severe neurological condition. Biochemical and proteomic studies in fibroblasts of the subject po...

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension #RareDisease #Genetics #morbidgene #newphenotype www.sciencedirect.com/science/arti...

ClinGen API platform for classification of human genetic variants #RareDisease #Genetics #ClinGen www.cell.com/cell-genomic...

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...

Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

A Homozygous Nonsense Variant in the Oligosaccharyltransferase Complex Gene, RPN1, Causes a Congenital Disorder of Glycosylation #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...

When splicing is not all or none: GT>GC 5′ splice-site variants as a model for intermediate effects and challenges in variant classification #RareDisease #Genetics www.cell.com/hgg-advances...

Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1 #RareDisease #Genetics www.biorxiv.org/content/10.1...

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

The involvement of TNFRSF25 in age-related hearing loss #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder #RareDisease #Genetics www.cell.com/hgg-advances...

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly Biallelic variants in RDH11, encoding retinol dehydrogenase 11, have been associated with a syndromic disorder, based on four individuals from two unr…

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility Our study identifies the first human knockouts of OLA1 presenting with a hypermobility-neurodevelopmental syndrome supported by functional data derived from patient cells and C. elegans models. The wo...

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy We identify bi-allelic BLOC1S1 variants in 11 individuals with severe neurodevelopmental disease, including leukodystrophy, epilepsy, spasticity, and optic atrophy. Functional analyses demonstrate imp...

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Genome-wide detection of human 5′ UTR variants that impact protein translation #RareDisease #Genetics www.cell.com/ajhg/fulltex...

Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos - Human Genetics Human Genetics - Oocyte and early embryo competence defects (OECD) are a kind of Mendelian genetic disorder. While numerous pathogenic variants have been identified, the underlying molecular...

Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...

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First Identification of a Heterozygous RNU4-2and RNU4-1 Deletion Associated With Fetal Urogenital and Anorectal Malformations #RareDisease #Genetics obgyn.onlinelibrary.wiley.com/doi/10.1002/...

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome) #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...