@franmartinezgr.bsky.social
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/...
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...
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort #RareDisease #Genetics www.sciencedirect.com/science/arti...
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort
Phenotype-based ascertainment of probands in studies of Mendelian disorders may exclude individuals with mild phenotypes or that lack health care acce…
www.sciencedirect.com
November 22, 2025 at 7:43 AM
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort #RareDisease #Genetics www.sciencedirect.com/science/arti...
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.
#RareDisease #Genetics www.cell.com/hgg-advances...
#RareDisease #Genetics www.cell.com/hgg-advances...
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
This study evaluates the clinical significance of ROH detection in prenatal settings.
Our results and findings from the other five large prenatal case series from literature
indicated that the use of ...
www.cell.com
November 20, 2025 at 4:36 PM
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.
#RareDisease #Genetics www.cell.com/hgg-advances...
#RareDisease #Genetics www.cell.com/hgg-advances...
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
Heterozygous variants in ESRRG are associated with an autosomal-dominant, non-progressive
congenital movement disorder. Clinical characterization of eight individuals, supported
by in silico modeling ...
www.cell.com
November 19, 2025 at 8:41 PM
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes - Genome Medicine
Background Imprinted genes are expressed in a parental-origin–specific manner. The imprinted regions including imprinted genes have differentially methylated regions (DMRs) with different 5-methylcyto...
genomemedicine.biomedcentral.com
November 19, 2025 at 11:36 AM
A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
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...
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications - Genome Medicine
Determining the correct structure of large, interspersed duplications and related complex genomic rearrangements in genetic disease is critical when establishing causal roles and requires a technology...
genomemedicine.biomedcentral.com
November 17, 2025 at 6:06 PM
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
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/...
A functional assay to classify RB1 variants of uncertain significance #RareDisease #Genetics www.sciencedirect.com/science/arti...
A functional assay to classify RB1 variants of uncertain significance
The RB1 gene encodes the retinoblastoma protein (pRB) playing a major role in cell cycle control, particularly by its interaction with E2F transcripti…
www.sciencedirect.com
November 13, 2025 at 7:01 PM
A functional assay to classify RB1 variants of uncertain significance #RareDisease #Genetics www.sciencedirect.com/science/arti...
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...
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? #RareDisease #Genetics www.nature.com/articles/s10...
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? - Journal of Human Genetics
Journal of Human Genetics - PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
www.nature.com
November 9, 2025 at 2:12 PM
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? #RareDisease #Genetics www.nature.com/articles/s10...
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...