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Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/cg…

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines #RareDisease #Genetics nature.com/articles/s4152…

The role of untranslated region variants in Mendelian disease: a review #RareDisease #Genetics #Review #UTR nature.com/articles/s4143…

Variants in NR6A1 cause a novel oculo vertebral renal syndrome #RareDisease #Genetics #morbidgene nature.com/articles/s4146…

Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly #RareDisease #Genetics #morbidgene jci.org/articles/view/…

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease #RareDisease #Genetics #morbidgene cell.com/hgg-advances/f…

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders #RareDisease #Genetics …lepigeneticsjournal.biomedcentral.com/articles/10.11…

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar #RareDisease #Genetics #ACMG #ClinGen #VECP #PAH onlinelibrary.wiley.com/doi/10.1155/hu…

An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/aj…

SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/cg…

Mapping MAVE data for use in human genomics applications #RareDisease #Genetics genomebiology.biomedcentral.com/articles/10.11…

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders #RareDisease #Genetics medrxiv.org/content/10.110…

New UCSC track release!!! Two new pathogenicity prediction score tracks available in the Deleteriousness Predictions super track: M-CAP and MutScore. #RareDisease #Genetics #UCSC genome.ucsc.edu/goldenPath/new…

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases #RareDisease #Genetics jmg.bmj.com/content/early/…

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…

The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG sciencedirect.com/science/articl…

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines #RareDisease #Genetics #morbidgene nature.com/articles/s4143…

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…