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RT James Fasham: Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of ge…

RT Francisco Martínez: Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/aj…

RT Francisco Martínez: Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…

🤖Am testing integration with other platform for the next half an hour, please bear with me.

RT James Fasham: Just testing integration across platforms for DiseaseGenes, please bear with me #MorbidGene

New discovery from BlueSky! ( ift.tt/e3PIrzi) "#MorbidGene (Test 2)" from @jamesfasham.bsky.social - James Fasham on May 29, 2025 at 12:39PM

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities #RareDisease #Genetics #morbidgene cell.com/ajhg/abstract/…

New international collaborative work incl. our team on KDM2B: KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome academic.oup.com/hmg/article/do… #NDD, #genetics #genomics #morbidgene

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities ift.tt/L3Gnvry

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway ift.tt/uLSDGV7

De novo missense variants of KCNA3, KCNA4, and KCNA6 cause early onset developmental epileptic encephalopathy ift.tt/alN6Xwh

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement ift.tt/eGg5Yld

Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease ift.tt/O0WmUyP

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants ift.tt/h6jq5kN

A Novel Compound Heterozygous Mutation in TEX14 Causes Human Non-Obstructive Azoospermia by Disrupting the Assembly of Intercellular Bridges ift.tt/kBAlvhs

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy ift.tt/sDJtMQN

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome ift.tt/jWN1z4R

Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family ift.tt/zBn4kVK

The gamma-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss ift.tt/7y4zO8F

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome ift.tt/mTF85Cq