franmartinezgr
PhD, Geneticist 🧬
linkedin.com/in/francisco-martin…
- Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
- Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...
- Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
- Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
- Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension #RareDisease #Genetics jmg.bmj.com/content/earl...
- Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis. #RareDisease #Genetics #morbidgene #newphenotype www.medrxiv.org/content/10.6...
- Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG www.sciencedirect.com/science/arti...
- Points to consider for the next-generation-sequencing-based detection of copy-number abnormalities and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics #RareDisease #ACMG www.sciencedirect.com/science/arti...
- De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
- UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
- Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
- Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
- Regulation of gene expression by alternative polyadenylation in health and disease #RareDisease #Genetics www.nature.com/articles/s41...
- MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
- ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes #RareDisease #Genetics #morbidgene www.biorxiv.org/content/10.6...
- International Clinical Evidence-based Guideline for Kleefstra Syndrome #RareDisease #Genetics www.sciencedirect.com/science/arti...
- A genomic and epigenomic view of human centromeres #RareDisease #Genetics www.nature.com/articles/s41...
- Clinical manifestations of chromosome 19p13.11 duplication #RareDisease #Genetics jmg.bmj.com/content/earl...
- Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...
- Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
- Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE #RareDisease #Genetics www.nature.com/articles/s41...
- Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies #RareDisease #Genetics www.cell.com/ajhg/fulltex...
- De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
- Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...
- De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
- Non-invasive Prenatal MT-RNR1 Pharmacogenetic Testing for the Prevention of Aminoglycoside-Induced Profound Hearing Loss #RareDisease #Genetics www.medrxiv.org/content/10.6...
- Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...
- DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects #RareDisease #Genetics link.springer.com/article/10.1...
- A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort #RareDisease #Genetics www.nature.com/articles/s41...
- Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1155/...
- Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia #RareDisease #Genetics academic.oup.com/hmg/advance-...
- An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families #RareDisease #Genetics link.springer.com/article/10.1...
- De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
- 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...
- Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
- 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...
- CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism #RareDisease #Genetics www.cell.com/ajhg/fulltex...
- 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...
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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/...
- Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy #RareDisease #Genetics #morbidgene link.springer.com/article/10.1...
- Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations #RareDisease #Genetics #morbidgene www.sciencedirect.com:5037/science/arti...
- 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...
- DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
- 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/...
- 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...
- A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene www.cell.com/hgg-advances...
