Francisco Martínez
@FranMartinezGr
PhD, Geneticist
Mapping MAVE data for use in human genomics applications #RareDisease #Genetics genomebiology.biomedcentral.com/articles/10.11…
De Novo Missense Variants in CHTF18: The Potential to Expand the Clinical Spectrum of Cohesinopathies #RareDisease #Genetics #morbidgene cell.com/hgg-advances/f…
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2 #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/aj…
Novel start codon variant in the 5’UTR of LDLR associated with familial hypercholesterolaemia #RareDisease #Genetics nature.com/articles/s4143…
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome #RareDisease #Genetics cell.com/hgg-advances/f…
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review #RareDisease #Genetics nature.com/articles/s1003…
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction #RareDisease #Genetics nature.com/articles/s1003…
Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders #RareDisease #Genetics cell.com/hgg-advances/f…
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines #RareDisease #Genetics #morbidgene nature.com/articles/s4143…
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) #RareDisease #Genetics #ACMG sciencedirect.com/science/articl…
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…
AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases #RareDisease #Genetics jmg.bmj.com/content/early/…
New UCSC track release!!! Two new pathogenicity prediction score tracks available in the Deleteriousness Predictions super track: M-CAP and MutScore. #RareDisease #Genetics #UCSC genome.ucsc.edu/goldenPath/new…
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders #RareDisease #Genetics medrxiv.org/content/10.110…
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/cg…
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/aj…
An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar #RareDisease #Genetics #ACMG #ClinGen #VECP #PAH onlinelibrary.wiley.com/doi/10.1155/hu…
ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders #RareDisease #Genetics …lepigeneticsjournal.biomedcentral.com/articles/10.11…