User profiles for F. López-Giráldez
Francesc López-GiráldezYCGA Ass. Dir. Bioinformatics, Yale University Verified email at yale.edu Cited by 6991 |
[PDF][PDF] The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
…, M Kircher, K Bilguvar, F López-Giráldez… - The American Journal of …, 2015 - cell.com
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …
genotype and phenotype, making possible carrier and population screening and direct …
[HTML][HTML] Centers for Mendelian Genomics: A decade of facilitating gene discovery
…, RB Lipson, P Liu, AK Lovgren, F López-Giráldez… - Genetics in …, 2022 - Elsevier
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the role …
over the past decade. With increasing availability of exome and genome sequencing, the role …
The Ascomycota tree of life: a phylum-wide phylogeny clarifies the origin and evolution of fundamental reproductive and ecological traits
We present a 6-gene, 420-species maximum-likelihood phylogeny of Ascomycota, the largest
phylum of Fungi. This analysis is the most taxonomically complete to date with species …
phylum of Fungi. This analysis is the most taxonomically complete to date with species …
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
…, GA Porter Jr, R Kim, K Bilguvar, F López-Giráldez… - Science, 2015 - science.org
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …
Complete mitochondrial genomes of ancient canids suggest a European origin of domestic dogs
The geographic and temporal origins of the domestic dog remain controversial, as genetic
data suggest a domestication process in East Asia beginning 15,000 years ago, whereas the …
data suggest a domestication process in East Asia beginning 15,000 years ago, whereas the …
Myofibroblast proliferation and heterogeneity are supported by macrophages during skin repair
…, E Salazar-Gatzimas, F López-Giráldez… - Science, 2018 - science.org
INTRODUCTION Fibroblasts produce extracellular matrix (ECM) molecules that regulate
tissue strength and resilience. Imbalanced ECM maintenance leads to tissue dysfunction. …
tissue strength and resilience. Imbalanced ECM maintenance leads to tissue dysfunction. …
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
…, C Castaldi, IR Tikhonova, F López-Giráldez… - Nature …, 2020 - nature.com
In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …
Phylogenetic and phylogenomic overview of the Polyporales
We present a phylogenetic and phylogenomic overview of the Polyporales. The newly
sequenced genomes of Bjerkandera adusta, Ganoderma sp., and Phlebia brevispora are …
sequenced genomes of Bjerkandera adusta, Ganoderma sp., and Phlebia brevispora are …
[HTML][HTML] PhyDesign: an online application for profiling phylogenetic informativeness
F López-Giráldez, JP Townsend - BMC Evolutionary Biology, 2011 - Springer
Background The rapid increase in number of sequenced genomes for species across of the
tree of life is revealing a diverse suite of orthologous genes that could potentially be …
tree of life is revealing a diverse suite of orthologous genes that could potentially be …
[HTML][HTML] A multigene phylogeny toward a new phylogenetic classification of Leotiomycetes
Fungi in the class Leotiomycetes are ecologically diverse, including mycorrhizas,
endophytes of roots and leaves, plant pathogens, aquatic and aero-aquatic hyphomycetes, …
endophytes of roots and leaves, plant pathogens, aquatic and aero-aquatic hyphomycetes, …