@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...
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...
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...
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...
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...
MaveMD: A functional data resource for genomic medicine #RareDisease #Genetics www.medrxiv.org/content/10.1...
November 22, 2025 at 1:14 PM
MaveMD: A functional data resource for genomic medicine #RareDisease #Genetics www.medrxiv.org/content/10.1...
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
November 18, 2025 at 6:11 PM
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
November 15, 2025 at 12:13 PM
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series #RareDisease #Genetics 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 onlinelibrary.wiley.com/doi/10.1111/...
November 12, 2025 at 3:26 PM
Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
November 10, 2025 at 5:18 PM
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
November 8, 2025 at 4:41 PM
Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
November 7, 2025 at 3:43 PM
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...