User profiles for F. Lopez-Giraldez
Francesc López-GiráldezYCGA Ass. Dir. Bioinformatics, Yale University Verified email at yale.edu Cited by 7007 |
[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 …
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 …
[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 …
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 …
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 …
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. …
[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, …
[PDF][PDF] Dermal adipocyte lipolysis and myofibroblast conversion are required for efficient skin repair
Mature adipocytes store fatty acids and are a common component of tissue stroma. Adipocyte
function in regulating bone marrow, skin, muscle, and mammary gland biology is emerging…
function in regulating bone marrow, skin, muscle, and mammary gland biology is emerging…