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 #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

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 #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 #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...

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/...

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

CoNVict: An Agentic AI System for Copy Number Variation Prioritization in Rare Disease Diagnosis #RareDisease #Genetics #CNV #AI www.medrxiv.org/content/10.6...

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement #RareDisease #Genetics www.sciencedirect.com/science/arti...

New UCSC track release!! The Human Methylation Atlas #RareDisease #Genetics genome.ucsc.edu/goldenPath/n...

Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders #RareDisease #Genetics www.nature.com/articles/s41...

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

Bi-allelic Variants in AP5Z1 and AP5B1 lead to retinal degeneration #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...

PanelAppRex aggregates disease gene panels and facilitates sophisticated search #RareDisease #Genetics www.medrxiv.org/content/10.1...

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research #RareDisease #Genetics www.nature.com/articles/s41...

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...

Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...

MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...

Managing incidental findings: Guidance for rare and inherited disease diagnostic genomic testing #RareDisease #Genetics acrobat.adobe.com/id/urn:aaid:...

PHARMWATCH: A Multilayer Pharmacogenomics Safety System for Accurate Star Allele Interpretation #RareDisease #Genetics www.medrxiv.org/content/10.6...

The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death #RareDisease #Genetics www.sciencedirect.com/science/arti...

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...

A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...

Gene Specific Pathogenicity Predictor for Chromatin Remodeling BAF Complex-Associated Neurodevelopmental Disorders #RareDisease #Genetics www.cell.com/hgg-advances...

A comprehensive framework for the interpretation of TTN missense variants #RareDisease #Genetics link.springer.com/article/10.1...

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...