franmartinezgr
PhD, Geneticist 🧬
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
- Identification of MACF1 as a causative gene of generalised epilepsy #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...
- Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS) #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
- Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis #RareDisease #Genetics jmg.bmj.com/content/earl...
- Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome #RareDisease #Genetics clinicalepigeneticsjournal.biomedcentral.com/articles/10....
- The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
- Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden #RareDisease #Genetics www.sciencedirect.com/science/arti...
- A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG www.sciencedirect.com/science/arti...
- Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...
- Hemizygous SMARCA1 variants cause X-linked intellectual disability #RareDisease #Genetics #morbidgene www.nature.com/articles/s10...
- Pleiotropic effects of MORC2 derive from its epigenetic signature #RareDisease #Genetics academic.oup.com/brain/advanc...
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations #RareDisease #Genetics www.nature.com/articles/s41...
- Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience #RareDisease #Genetics www.cell.com/ajhg/fulltex...
- Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature #RareDisease #Genetics #ACMG #SecondarFindings #HereditaryCancer link.springer.com/article/10.1...
- Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-...
- A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease #RareDisease #Genetics academic.oup.com/brain/advanc...
- First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
- Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study #RareDisease #Genetics academic.oup.com/brain/advanc...
- Improved diagnosis of rare disease patients through application of constrained coding region annotation and de novo status. #RareDisease #Genetics www.sciencedirect.com/science/arti...
- Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...
- Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
- Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration #RareDisease #Genetics www.cell.com/ajhg/abstrac...
- Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
- Variants in CFAP410 cause a range of retinal and skeletal phenotypes #RareDisease #Genetics www.nature.com/articles/s41...
- Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing #RareDisease #Genetics www.medrxiv.org/content/10.1...
- Updated ACMG/AMP Specifications for Variant Interpretation and Gene Curations from the ClinGen RASopathy Expert Panels #RareDisease #Genetics #ACMG #ClinGen www.gimopen.org/article/S294...
- Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Here, they describe a comprehensive cohort of 43 individuals from 31 unrelated families with bi-allelic variants in TRMT1. #RareDisease #Genetics www.cell.com/ajhg/fulltex...
- Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....
- Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies #RareDisease #Genetics #morbidgene genomemedicine.biomedcentral.com/articles/10....
- ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence #RareDisease #Genetics #BRCA1 #ACMG www.cell.com/ajhg/fulltex...
- Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/...
- Trio exome sequencing in individuals with CAKUT identifies de novo variants in potential novel candidate genes in 19.62% #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
- Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders #RareDisease #Genetics www.medrxiv.org/content/10.1...
- The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships #RareDisease #Genetics #ClinGen www.gimopen.org/article/S294...
- Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
- Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
- C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
- LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...
- Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes. #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
- Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease #RareDisease #Genetics onlinelibrary.wiley.com/doi/full/10....
- Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency #RareDisease #Genetics onlinelibrary.wiley.com/doi/full/10....
- De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...
- Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy #RareDisease #Genetics www.medrxiv.org/content/10.1...
- Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism #RareDisease #Genetics #morbidgene academic.oup.com/brain/advanc...
- Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18 #RareDisease #Genetics #morbidgene #newphenotype journals.biologists.com/dmm/article/...
- Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes #RareDisease #Genetics www.nature.com/articles/s41...
