Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features

By integrating clinical phenotyping, association studies, molecular functional studies, and Drosophila modeling, the authors demonstrate that de novo variants in the RNA-binding protein ELAVL2 cause a...

cell.com

PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes #RareDisease #Genetics www.jci.org/articles/vie...

XXYLT1 and Mendelian Retinal Dystrophy #RareDisease #Genetics #morbidgene jamanetwork.com/journals/jam...

PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants #RareDisease #Genetics journals.biologists.com/dmm/article/...

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia #RareDisease #Genetics www.cell.com/ajhg/abstrac...

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures #RareDisease #Genetics www.cell.com/ajhg/fulltex...

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy #RareDisease #Genetics #morbidgene pubmed.ncbi.nlm.nih.gov/42466416/

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome #RareDisease #Genetics link.springer.com/article/10.1...

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...

Copy Number Gains at 17p11.2 Sparing <fc><fi>RAI1</fi></fc>: A Shared Phenotype Pattern

A variety of genomic rearrangement mechanisms contribute to copy number variations at the 17p11.2 locus driven in part by its complex genomic architecture which is characterized by low copy repeats (...

onlinelibrary.wiley.com

New UCSC track launch!!!: Long-read Structural Variants container track #RareDisease #Genetics genome.ucsc.edu/goldenPath/n...

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

Heterozygous <fc>RNF13</fc> Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy 73 (DEE73; OMIM 618379) is an autosomal dominant severe neurodevelopmental disorder associated with pathogenic variants in the RING finger protein 13 gene (...

onlinelibrary.wiley.com

Claudin-11–Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms #RareDisease #Genetics #NewMOI #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Newly released ACGS guidance!!!: Guidance for the Analysis of Structural Variants from Whole Genome Sequencing Data. #RareDisease #Genetics #ACGS #GenQA #WGS acrobat.adobe.com/id/urn:aaid:...

RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases #RareDisease #Genetics link.springer.com/article/10.1...

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification #RareDisease #Genetics www.cell.com/ajhg/fulltex...

Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Boone et al. describe a neurodevelopmental condition caused by haploinsufficiency of the cohesin release factor WAPL and provide phenotypic and functional genomic evidence of WAPL as a driver gene wit...

cell.com

From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...

New Release: DECIPHER v11.40!!! #RareDisease #Genetics www.deciphergenomics.org/about/news

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia #RareDisease #Genetics www.nature.com/articles/s41...

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia - European Journal of Human Genetics

European Journal of Human Genetics - Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia

nature.com

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED) #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)

Through the GeneMatcher data-sharing database, we identified five affected individuals from four unrelated families with a skeletal dysplasia who have biallelic, putatively deleterious variants in MI...

onlinelibrary.wiley.com

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

CDK20 is a ciliary kinase not previously linked to human disease. Lemire et al. report seven individuals with bi-allelic CDK20 variants, midline brain and facial anomalies, and impaired cilium formati...

cell.com

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease

Hyaluronan and proteoglycan link protein 1 encodes HAPLN1, a critical structural protein in the extracellular matrix (ECM), essential for maintaining tissue architecture and integrity. HAPLN1 mediate...

onlinelibrary.wiley.com

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

Bi-allelic missense variants in human GPN2 result in Perrault syndrome #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification #RareDisease #Genetics www.science.org/doi/10.1126/...

AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification

LLMs push the boundaries of fully automated variant classification, performing on par with human experts.

science.org