@franmartinezgr.bsky.social
📤 26
📥 32
📝 299
PhD, Geneticist 🧬
https://www.linkedin.com/in/francisco-martinez-07484822
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/fulltex...
1 day ago
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ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes
#RareDisease
#Genetics
#morbidgene
journals.plos.org/plosgenetics...
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ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes
Author summary Cardiomyopathy is a condition characterized by structural and functional abnormalities of the heart muscle, which can impair its ability to pump blood effectively and may eventually lea...
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1011964
2 days ago
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Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1002/...
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Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures
We report a biallelic likely pathogenic variant in the NRDC gene in two Iranian siblings with developmental delay, microcephaly, hypotonia, seizures, and absent speech. Exome sequencing (ES) identifi...
https://onlinelibrary.wiley.com/doi/10.1002/ajmga.70039
3 days ago
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy - European Journal of Human Genetics
European Journal of Human Genetics - A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
https://www.nature.com/articles/s41431-025-01991-x
5 days ago
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CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE
#RareDisease
#Genetics
#morbidgene
www.medrxiv.org/content/10.6...
6 days ago
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MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
#RareDisease
#Genetics
www.cell.com/ajhg/fulltex...
6 days ago
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Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 Kit
#RareDisease
#Genetics
www.jmdjournal.org/article/S152...
7 days ago
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reposted by
European Society of Human Genetics
9 days ago
📺 Now Online! Episodes 7 (Elfride de Baere) & 8 (Lisenka Vissers) of the ESHG Webinar Series are now available on YouTube:
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Zoom links for 2026 webinars will be shared on our website. Sign up to receive reminders and updates:
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Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1155/...
9 days ago
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Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy
#RareDisease
#Genetics
#morbidgene
link.springer.com/article/10.1...
10 days ago
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Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations
#RareDisease
#Genetics
#morbidgene
www.sciencedirect.com:5037/science/arti...
11 days ago
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Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and epilepsy
#RareDisease
#Genetics
#morbidgene
www.sciencedirect.com:5037/science/arti...
13 days ago
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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER
#RareDisease
#Genetics
#morbidgene
www.medrxiv.org/content/10.6...
15 days ago
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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/...
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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...
https://onlinelibrary.wiley.com/doi/10.1155/humu/2991452
16 days ago
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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...
17 days ago
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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...
18 days ago
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A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs
#RareDisease
#Genetics
#morbidgene
www.cell.com/hgg-advances...
20 days ago
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Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia
#RareDisease
#Genetics
#morbidgene
jmg.bmj.com/content/earl...
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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...
https://jmg.bmj.com/content/early/2025/12/03/jmg-2025-111125
21 days ago
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Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
22 days ago
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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...
24 days ago
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Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy
#RareDisease
#Genetics
www.nature.com/articles/s41...
25 days ago
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Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
#RareDisease
#Genetics
www.cell.com/ajhg/fulltex...
27 days ago
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MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics
#RareDisease
#Genetics
link.springer.com/article/10.1...
28 days ago
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RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications
#RareDisease
#Genetics
#morbidgene
movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...
28 days ago
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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...
29 days ago
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De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
#RareDisease
#Genetics
#morbidgene
www.researchsquare.com/article/rs-8...
30 days ago
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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...
about 1 month ago
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C-terminal extension of HSPB6 in a family with myopathy and cataract
#RareDisease
#Genetics
#morbidgene
academic.oup.com/hmg/advance-...
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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
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddaf175/8343200
about 1 month ago
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Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1002/...
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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....
https://onlinelibrary.wiley.com/doi/10.1002/ajmga.70009
about 1 month ago
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Proteome-wide model for human disease genetics
#RareDisease
#Genetics
www.nature.com/articles/s41...
about 1 month ago
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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...
about 1 month ago
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Identification of an episignature for the MEF2C-associated syndrome
#RareDisease
#Genetics
www.nature.com/articles/s41...
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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
https://www.nature.com/articles/s41431-025-01983-x
about 1 month ago
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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...
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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
https://www.nature.com/articles/s10038-025-01435-w
about 1 month ago
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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
#RareDisease
#Genetics
www.jci.org/articles/vie...
about 1 month ago
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Expanding the phenotype associated with biallelic SCNM1 variants
#RareDisease
#Genetics
#morbidgene
link.springer.com/article/10.1...
about 1 month ago
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Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships
#RareDisease
#Genetics
www.jci.org/articles/vie...
about 1 month ago
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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1002/...
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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....
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64303
about 1 month ago
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MaveMD: A functional data resource for genomic medicine
#RareDisease
#Genetics
www.medrxiv.org/content/10.1...
about 1 month ago
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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...
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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…
https://www.sciencedirect.com/science/article/abs/pii/S1098360025002977
about 1 month ago
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Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.
#RareDisease
#Genetics
www.cell.com/hgg-advances...
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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 ...
https://www.cell.com/hgg-advances/fulltext/S2666-2477(25)00152-6
about 1 month ago
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Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/abstrac...
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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 ...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00423-9
about 1 month ago
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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....
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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...
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01559-w
about 1 month ago
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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/fulltex...
about 1 month ago
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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....
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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...
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01571-0
about 1 month ago
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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/...
about 2 months ago
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A functional assay to classify RB1 variants of uncertain significance
#RareDisease
#Genetics
www.sciencedirect.com/science/arti...
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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…
https://www.sciencedirect.com/science/article/abs/pii/S1098360025002874
about 2 months ago
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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/...
about 2 months ago
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
about 2 months ago
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PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
#RareDisease
#Genetics
www.nature.com/articles/s10...
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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?
https://www.nature.com/articles/s10038-025-01429-8
about 2 months ago
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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/...
about 2 months ago
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