@franmartinezgr.bsky.social
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
December 16, 2025 at 6:45 PM
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1155/...
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft
The genetic basis of nonsyndromic orofacial cleft (NsOFC) remains elusive, although associations have been identified with various genetic loci. NsOFC has a less pronounced genetic background than sy...
onlinelibrary.wiley.com
December 15, 2025 at 5:46 PM
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1155/...
Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset #RareDisease #Genetics link.springer.com/article/10.1...
December 14, 2025 at 9:01 AM
Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset #RareDisease #Genetics link.springer.com/article/10.1...
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions #RareDisease #Genetics www.sciencedirect.com:5037/science/arti...
December 13, 2025 at 8:25 AM
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions #RareDisease #Genetics www.sciencedirect.com:5037/science/arti...
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
December 11, 2025 at 6:34 PM
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia
Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large del...
jmg.bmj.com
December 10, 2025 at 4:08 PM
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
December 9, 2025 at 5:53 PM
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype www.medrxiv.org/content/10.6...
December 7, 2025 at 4:20 PM
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype www.medrxiv.org/content/10.6...
Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy #RareDisease #Genetics www.nature.com/articles/s41...
December 6, 2025 at 12:21 PM
Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy #RareDisease #Genetics www.nature.com/articles/s41...
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia #RareDisease #Genetics www.cell.com/ajhg/fulltex...
December 4, 2025 at 8:07 PM
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia #RareDisease #Genetics www.cell.com/ajhg/fulltex...
MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics #RareDisease #Genetics link.springer.com/article/10.1...
December 3, 2025 at 4:38 PM
MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics #RareDisease #Genetics link.springer.com/article/10.1...
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
December 3, 2025 at 7:20 AM
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice #RareDisease #Genetics www.sciencedirect.com:5037/science/arti...
December 2, 2025 at 3:14 PM
Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice #RareDisease #Genetics www.sciencedirect.com:5037/science/arti...
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene www.researchsquare.com/article/rs-8...
December 1, 2025 at 1:48 PM
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene www.researchsquare.com/article/rs-8...
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study #RareDisease #Genetics www.nature.com/articles/s41...
November 30, 2025 at 9:18 AM
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study #RareDisease #Genetics www.nature.com/articles/s41...
C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-...
C-terminal extension of HSPB6 in a family with myopathy and cataract
Abstract. The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its par
academic.oup.com
November 29, 2025 at 2:05 PM
C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-...
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis
Craniosynostosis is characterized by premature fusion of cranial sutures, often with a complex genetic basis. While multiple genes have been implicated, the role of TGFBR3 mutations remains largely u....
onlinelibrary.wiley.com
November 28, 2025 at 6:49 PM
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
Proteome-wide model for human disease genetics #RareDisease #Genetics www.nature.com/articles/s41...
November 27, 2025 at 6:19 PM
Proteome-wide model for human disease genetics #RareDisease #Genetics www.nature.com/articles/s41...
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
November 27, 2025 at 11:12 AM
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
Identification of an episignature for the MEF2C-associated syndrome #RareDisease #Genetics www.nature.com/articles/s41...
Identification of an episignature for the MEF2C-associated syndrome - European Journal of Human Genetics
European Journal of Human Genetics - Identification of an episignature for the MEF2C-associated syndrome
www.nature.com
November 26, 2025 at 9:52 PM
Identification of an episignature for the MEF2C-associated syndrome #RareDisease #Genetics www.nature.com/articles/s41...
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene www.nature.com/articles/s10...
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport - Journal of Human Genetics
Journal of Human Genetics - Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport
www.nature.com
November 26, 2025 at 10:25 AM
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene www.nature.com/articles/s10...
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive #RareDisease #Genetics www.jci.org/articles/vie...
November 25, 2025 at 8:51 PM
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive #RareDisease #Genetics www.jci.org/articles/vie...
Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...
November 25, 2025 at 6:41 PM
Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships #RareDisease #Genetics www.jci.org/articles/vie...
November 24, 2025 at 10:49 AM
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships #RareDisease #Genetics www.jci.org/articles/vie...
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelo....
onlinelibrary.wiley.com
November 23, 2025 at 8:51 AM
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...