New finding from IchilovG on Twitter/X! twitter.com/HGGAdvances/...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/7xaDSBf

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder #RareDisease #Genetics #morbidgene t.co/9W7DWq8wVR

New finding from IchilovG on Twitter/X! twitter.com/HGGAdvances/...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/bFDqPR0

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestati…

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/...

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes #RareDisease #Genetics #morbidgene t.co/cEaWYvCr96

New finding from IchilovG on Twitter/X! twitter.com/ClinGenetNew...

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New finding from IchilovG on Twitter/X! twitter.com/DanielGCalam...

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New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/29BtHEP

Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy #RareDisease #Genetics #morbidgene t.co/iD4QMpUPt5

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

New finding from IchilovG on Twitter/X! twitter.com/GIMJournal/s...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/JtYhTuU

MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans #RareDisease #Genetics #morbidgene t.co/XGyYC8dJnZ

New finding from IchilovG on Twitter/X! twitter.com/jhumimmunity...

#MorbidGene #NovelPhenotype

New finding from IchilovG on Twitter/X! twitter.com/casanova_lab...

#NovelGene #MorbidGene

New finding from IchilovG on Twitter/X! twitter.com/jhumimmunity...

#MorbidGene #NovelPhenotype

New finding from IchilovG on Twitter/X! twitter.com/casanova_lab...

#NovelGene #MorbidGene

New finding from A_Khan731 on Twitter/X!

RT @FranMartinezGr: De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differ…

New finding from FranMartinezGr on Twitter/X! ift.tt/vKi1NCj

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 …

New finding from FranMartinezGr on Twitter/X! ift.tt/tG1oMD7

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms #RareDisease #Genetics #morbidgene …

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly The nonsense-mediated mRNA decay (NMD) pathway is a translation-dependent mechanism that maintains cellular RNA homeostasis by eliminating mRNAs containing

New finding from FranMartinezGr on Twitter/X! ift.tt/nBpaAsm

A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly #RareDisease #Gen…

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/...

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis #Rare…

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a...

New finding from FranMartinezGr on Twitter/X! ift.tt/NXMpRkf

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder #RareDisease #Genetics #morbidgene

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

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New finding from IchilovG on Twitter/X! twitter.com/hmg_journal/...

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New finding from IchilovG on Twitter/X! twitter.com/AJHGNews/sta...

#NovelGene #MorbidGene

New finding from FranMartinezGr on Twitter/X! ift.tt/DTzhCaB

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy #RareDisease #Genetics #morbidgene …

New finding from FranMartinezGr on Twitter/X! ift.tt/T8K2Lxn

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia #RareDisease #Genetics #morbidgene t.co/WrRPCDmO2O

New finding from IchilovG on Twitter/X! twitter.com/FranMartinez...

#NovelGene #MorbidGene