@franmartinezgr.bsky.social
š¤ 57
š„ 38
š 474
Geneticist, PhD, ErCLG š§¬
https://www.linkedin.com/in/francisco-martinez-07484822
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
#RareDisease
#Genetics
#morbidgene
link.springer.com/article/10.1...
about 6 hours ago
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CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
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CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders - European Journal of Human Genetics
European Journal of Human Genetics - CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
https://www.nature.com/articles/s41431-026-02169-9
about 11 hours ago
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Expanding the ABCA2-associated neurodevelopmental phenotype
#RareDisease
#Genetics
www.cell.com/hgg-advances...
1 day ago
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Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy
#RareDisease
#Genetics
#newMOI
#newphenotype
#morbidgene
onlinelibrary.wiley.com/doi/10.1002/...
2 days ago
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1
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GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
#RareDisease
#Genetics
#morbidgene
academic.oup.com/brain/advanc...
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GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
Failla et al. identify biallelic loss-of-function variants in GIT1 as the cause of a severe neurodevelopmental disorder characterized by microcephaly, brai
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awag223/8719028
4 days ago
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Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability
#RareDisease
#Genetics
#morbidgene
jmg.bmj.com/content/earl...
4 days ago
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Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
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Further Support of Autosomal Recessive CSF3āRelated Severe Congenital Neutropenia
Severe congenital neutropenia (SCN) is a genetically heterogeneous condition. Reaching a molecular diagnosis is important for management, prognostication, and risk assessment. We present the first co...
https://onlinelibrary.wiley.com/doi/10.1111/cge.70207
4 days ago
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Interplay between genomic architecture alterations and GDF6 regulation: a candidate mechanism in Nablus mask-like facial syndrome
#RareDisease
#Genetics
www.cell.com/hgg-advances...
5 days ago
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Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
7 days ago
1
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Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
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Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder - European Journal of Human Genetics
European Journal of Human Genetics - Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
https://www.nature.com/articles/s41431-026-02151-5
7 days ago
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GANomics: bridging legacy and modern transcriptomic platforms for clinical applications
#RareDisease
#Genetics
www.nature.com/articles/s41...
9 days ago
0
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USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
12 days ago
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1
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/fulltex...
12 days ago
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KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders
#RareDisease
#Genetics
www.sciencedirect.com/science/arti...
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https://www.sciencedirect.com/science/article/abs/pii/S1098360026009548
12 days ago
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RBM20 isoform regulation by independent transcription start sites adapts alternative splicing in development and disease
#RareDisease
#Genetics
www.nature.com/articles/s41...
13 days ago
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The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
14 days ago
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Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families
#RareDisease
#Genetics
www.sciencedirect.com/science/arti...
16 days ago
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1
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Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants
#RareDisease
#Genetics
www.biorxiv.org/content/10.6...
18 days ago
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Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
#RareDisease
#Genetics
#ACMG
www.sciencedirect.com/science/arti...
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Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Check access to the full text by signing in through your organization.
https://www.sciencedirect.com/science/article/abs/pii/S1098360026009019
19 days ago
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Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
#RareDisease
#Genetics
#ACMG
www.sciencedirect.com/science/arti...
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Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Check access to the full text by signing in through your organization.
https://www.sciencedirect.com/science/article/abs/pii/S1098360026008385
19 days ago
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Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
#RareDisease
#Genetics
www.jci.org/articles/vie...
20 days ago
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Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder
#RareDisease
#Genetics
#morbidgene
www.jci.org/articles/vie...
20 days ago
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1
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Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier
#RareDisease
#Genetics
www.cell.com/hgg-advances...
22 days ago
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Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
#RareDisease
#Genetics
#newMOI
#newphenotype
#morbidgene
www.cell.com/ajhg/abstrac...
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Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
We identify five individuals from four unrelated families harboring bi-allelic loss-of-function variants in TMEM63B with childhood interstitial lung disease and developmental delay. Convergent data fr...
https://www.cell.com/ajhg/abstract/S0002-9297(26)00195-3
23 days ago
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Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
26 days ago
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Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians
#RareDisease
#Genetics
www.jci.org/articles/vie...
29 days ago
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1
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New Massively Parallel Reporter Assay (MPRA) tracks in UCSC genome browser!!!
#RareDisease
#Genetics
#UCSC
genome.ucsc.edu/goldenPath/n...
29 days ago
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ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
#RareDisease
#Genetics
#ACMG
#ClinGen
www.sciencedirect.com/science/arti...
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ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We creā¦
https://www.sciencedirect.com/science/article/pii/S1098360026009330
29 days ago
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Human germline biallelic loss-of-function OSMR variants cause severe allergic disease
#RareDisease
#Genetics
#morbidgene
rupress.org/jhi/article/...
about 1 month ago
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Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders
#RareDisease
#Genetics
www.sciencedirect.com/science/arti...
about 1 month ago
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Geneādisease relationships for glomerular phenotypes: expert recommendations from ClinGen
#RareDisease
#Genetics
#ClinGen
www.nature.com/articles/s41...
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Geneādisease relationships for glomerular phenotypes: expert recommendations from ClinGen - Nature Reviews Nephrology
Many glomerular diseases have a genetic basis; however, not all identified variants are pathogenic. This Expert Recommendation from the Clinical Genome Resource (ClinGen) Glomerulopathy Gene Curation ...
https://www.nature.com/articles/s41581-026-01087-9
about 1 month ago
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OpenSplice: the impact of half a million mutations on the alternative splicing of 600 human exons
#RareDisease
#Genetics
www.biorxiv.org/content/10.6...
about 1 month ago
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GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1111/...
about 1 month ago
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Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction
#RareDisease
#Genetics
#newphenotype
#newMOI
#morbidgene
jmg.bmj.com/content/earl...
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Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction
Background Steroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 8...
https://jmg.bmj.com/content/early/2026/05/28/jmg-2025-111444
about 1 month ago
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Rare biallelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease
#RareDisease
#Genetics
#morbidgene
www.medrxiv.org/content/10.6...
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Rare biallelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease
We report that biallelic LRRK2 loss-of-function (LoF) causes a Mendelian form of interstitial lung disease characterized by alveolar epithelial cell dysfunction and lung fibrosis in two brothers with ...
https://www.medrxiv.org/content/10.64898/2026.05.15.26352763v1
about 1 month ago
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Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in SmithāMagenis Syndrome
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1002/...
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https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70205
about 1 month ago
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Exercise-induced lactic acidemia associated with a SLC16A13 biallelic variant
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
about 1 month ago
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Polymorphic CGG repeats in gene regulation and disease
#RareDisease
#Genetics
www.cell.com/ajhg/abstrac...
about 1 month ago
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Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
#RareDisease
#Genetics
#morbidgene
www.cell.com/ajhg/fulltex...
about 1 month ago
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Calibration and evaluation of machine-learning algorithms for missense variant classification under ACMG/ClinGen recommendations
#RareDisease
#Genetics
www.sciencedirect.com/science/arti...
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Calibration and evaluation of machine-learning algorithms for missense variant classification under ACMG/ClinGen recommendations
Missense variants represent a large proportion of variants of uncertain significance (VUS) in clinical genetics. The ClinGen framework now enables quaā¦
https://www.sciencedirect.com/science/article/abs/pii/S109836002600924X
about 1 month ago
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Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
about 1 month ago
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Context-dependent roles of alpha-ketoglutarate in brain disorders: molecular mechanisms and translational opportunities
#RareDisease
#Genetics
www.oaepublish.com/articles/jtg...
about 2 months ago
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De Novo 2.2āMb 19q13.42āq13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model
#RareDisease
#Genetics
onlinelibrary.wiley.com/doi/10.1002/...
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De Novo 2.2āMb 19q13.42āq13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model
U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre-mRNA splicing factor involved in the early stages of pre-mRNA splicing. To date, multiple individuals have been reported with predo...
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70202
about 2 months ago
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A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
#RareDisease
#Genetics
www.cell.com/ajhg/abstrac...
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A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
A next-generation KMT2D episignature, defined using the largest Kabuki syndrome type 1 cohort to date, can be used to map pathogenic variants using array or long-read platforms, to improve missense va...
https://www.cell.com/ajhg/abstract/S0002-9297(26)00160-6
about 2 months ago
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Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1
#RareDisease
#Genetics
www.nature.com/articles/s41...
about 2 months ago
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Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing
#RareDisease
#Genetics
www.medrxiv.org/content/10.6...
about 2 months ago
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Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction
#RareDisease
#Genetics
#morbidgene
jmg.bmj.com/content/earl...
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https://jmg.bmj.com/content/early/2026/05/05/jmg-2025-111109
about 2 months ago
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A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
#RareDisease
#Genetics
#morbidgene
link.springer.com/article/10.1...
about 2 months ago
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Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
#RareDisease
#Genetics
#morbidgene
onlinelibrary.wiley.com/doi/10.1111/...
about 2 months ago
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Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
#RareDisease
#Genetics
#morbidgene
www.nature.com/articles/s41...
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Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type - European Journal of Human Genetics
European Journal of Human Genetics - Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
https://www.nature.com/articles/s41431-026-02124-8
about 2 months ago
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