New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/... Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans #RareDisease #Genetics #morbidgene t.co/86fehB0q8R

New finding from RMaroofian on Twitter/X! RT @FranMartinezGr: PIGC-related encephalopathy: Lessons learned from 18 new probands #RareDisease #Genetics #morbidgene t.co/alKML%E2%80%A6

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

New finding from FranMartinezGr on Twitter/X! ift.tt/nGPABmz Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene t.co/gpK57ZqZkW

New finding from StefanBarakat on Twitter/X! ift.tt/JmY6Iud New collaborative work incl. our group on VPS16 just published in Movement Disorders. @MDJ_Journal #morbidgene #dystonia #genetics

New finding from FranMartinezGr on Twitter/X! ift.tt/QbX6iWo Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK #RareDisease #Genetics #morbidgene t.co/fadO7h2D30

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

New finding from FranMartinezGr on Twitter/X! ift.tt/yp73lgt Deficiency of SCAMP5 causes Parkinson’s disease due to loss of dopamine neurons #RareDisease #Genetics #morbidgene

New finding from FranMartinezGr on Twitter/X! ift.tt/pQsYynR A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia #RareDisease #Genetics #morbidgene t.co/SnvCrxx2s3

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

New finding from FranMartinezGr on Twitter/X! ift.tt/VqaES3r CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly #RareDisease #Genetics #morbidgene t.co/Jkgp3vwV9X

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

New finding from FranMartinezGr on Twitter/X! ift.tt/LcY7UZv Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/3FvuZfWZ9j

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

New finding from FranMartinezGr on Twitter/X! ift.tt/d1SKIYU De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism. #RareDisease #Genetics #morbidgene

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

New finding from FranMartinezGr on Twitter/X! ift.tt/85GBUwR EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling #RareDisease #Genetics #morbidgene

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

New finding from FranMartinezGr on Twitter/X! ift.tt/Sf9GQmz Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes #RareDisease #Genetics #morbidgene t.co/RYnRKqEfIR

New finding from jamesapoulter on Twitter/X! RT @FranMartinezGr: RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Gene…

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

New finding from FranMartinezGr on Twitter/X! ift.tt/62c8Q3B KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models #RareDisease #Genetics #morbidgene

New finding from FranMartinezGr on Twitter/X! ift.tt/InczAmH RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa #RareDisease #Genetics #morbidgene

New finding from A_Khan731 on Twitter/X! RT @FranMartinezGr: Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder #RareDisease #Genetics…

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

New finding from FranMartinezGr on Twitter/X! ift.tt/45IZOre Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function #RareDisease #Genetics #morbidgene t.co/4QMmiDs5GT

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

New finding from FranMartinezGr on Twitter/X! ift.tt/CKROx02 Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder #RareDisease #Genetics #morbidgene

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/... A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene #RareDisease #Genetics #morbidgene

New finding from IchilovG on Twitter/X! RT @FranMartinezGr: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy #RareDisease #Genetics #morbi…

New finding from FranMartinezGr on Twitter/X! ift.tt/0jKv7Oi Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy #RareDisease #Genetics #morbidgene t.co/5LhDYOBce4

New finding from FranMartinezGr on Twitter/X! ift.tt/1nNcZ3V Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders #RareDisease #Genetics #morbidgene

New finding from FranMartinezGr on Twitter/X! ift.tt/wgm0vYn A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements #RareDisease #Genetics #morbidgene

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/... Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene #RareDisease #Genetics #morbidgene

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/... De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders #RareDisease #Genetics #morbidgene t.co/moFqC8CNjF

New finding from IchilovG on Twitter/X! RT @FranMartinezGr: A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal domin…

New finding from FranMartinezGr on Twitter/X! ift.tt/Orh2L4c A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy #RareDisease #Genetics #morbidgene …

New finding from IchilovG on Twitter/X! RT @FranMartinezGr: Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine #RareDisease #Genetics #morbidgen…

New finding from FranMartinezGr on Twitter/X! ift.tt/LnTzaKU Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine #RareDisease #Genetics #morbidgene t.co/HGVU3zZeqW

New finding from IchilovG on Twitter/X! RT @FranMartinezGr: A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex…

New finding from FranMartinezGr on Twitter/X! ift.tt/OiS6UYV A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B #RareDisease #Genetics #morbidg…

New finding from IchilovG on Twitter/X! RT @FranMartinezGr: N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder #RareDisease #Genetics #morbidgene ht…

New finding from FranMartinezGr on Twitter/X! ift.tt/VUmYhMc N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder #RareDisease #Genetics #morbidgene t.co/zOsIjTwHny

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/... De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder #RareDisease #Genetics #morbidgene

New finding from IchilovG on Twitter/X! RT @FranMartinezGr: Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder #…

New finding from FranMartinezGr on Twitter/X! ift.tt/J6ifrtQ Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder #RareDisease #Genetics #morbidgene t.co/lAAFg62NIQ

New finding from souma0181 on Twitter/X! RT @FranMartinezGr: Heterozygous pathogenic variants in the splicing factor SF1lead to a large spectrum of neurodevelopmental disorders #Ra…

New finding from gen0m1cs on Twitter/X! RT @FranMartinezGr: Heterozygous pathogenic variants in the splicing factor SF1lead to a large spectrum of neurodevelopmental disorders #Ra…

New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/... A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder #RareDisease #Genetics #morbidgene t.co/Od1wONzpiP

New finding from hmg_journal on Twitter/X! RT @FranMartinezGr: Heterozygous pathogenic variants in the splicing factor SF1lead to a large spectrum of neurodevelopmental disorders #Ra…