Lista de obras -

A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness

artículo científico publicado en 2014

A general calculus of fitness landscapes finds genes under selection in cancers

artículo científico publicado en 2022

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

artículo científico publicado en 2019

Assessing predictions on fitness effects of missense variants in calmodulin

scientific article published on 03 September 2019

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

scientific article published on 17 August 2019

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

scientific article published on 23 August 2019

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

scientific article published on 03 July 2019

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge

artículo científico publicado en 2019

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

artículo científico publicado en 2019

Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4.

artículo científico

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

scientific article published on 03 September 2019

CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation

scientific article published on 07 August 2019

Cdkn2a suppresses metastasis in squamous cell carcinomas induced by the gain-of-function mutant p53(R172H).

artículo científico publicado en 2016

Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction

artículo científico publicado en 2017

Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer.

artículo científico publicado en 2018

Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways

artículo científico publicado en 2018

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication

artículo científico publicado en 2021

Deleterious Effect of RAS and Evolutionary High-risk TP53 Double Mutation in Colorectal Liver Metastases

scientific article published on 01 May 2019

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature ⬇️

artículo científico publicado el 10 de junio de 2011

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge

scientific article published on 12 July 2019

Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients

artículo científico publicado en 2015

Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer.

artículo científico publicado en 2015

Evolutionary action of mutations reveals antimicrobial resistance genes in Escherichia coli

scientific article published on 01 January 2022

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

artículo científico publicado en 2018

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

artículo científico publicado en 2017

Human muscle-specific A-kinase anchoring protein (mAKAP) polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/ PKA signaling.

artículo científico publicado en 2018

Identification of evolutionarily stable sites across the SARS-CoV-2 proteome

artículo científico publicado en 2020

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

artículo científico publicado en 2009

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

artículo científico publicado en 2011

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma

artículo científico publicado en 2019

Negative feedback in genetic circuits confers evolutionary resilience and capacitance

artículo científico publicado en 2014

Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests

artículo científico publicado en 2017

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5

scientific article published on 17 August 2019

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

artículo científico publicado en 2017

Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling

artículo científico publicado en 2017

Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

artículo científico publicado en 2019

Prediction and redesign of protein-protein interactions

artículo científico publicado en 2014

Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP).

artículo científico publicado en 2013

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

artículo científico publicado en 2016

REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING

artículo científico publicado en 2016

Separation of recombination and SOS response in Escherichia coli RecA suggests LexA interaction sites

artículo científico publicado en 2011

Single nucleotide variations: biological impact and theoretical interpretation

artículo científico publicado en 2014

Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.

artículo científico publicado en 2015

Structure and evolutionary trace-assisted screening of a residue swapping the substrate ambiguity and chiral specificity in an esterase

artículo científico publicado en 2021

Targeting SARS-CoV-2 Nsp3 macrodomain structure with insights from human poly(ADP-ribose) glycohydrolase (PARG) structures with inhibitors

artículo científico publicado en 2021

Uncovering DNA-PKcs ancient phylogeny, unique sequence motifs and insights for human disease

artículo científico publicado en 2020

Wee-1 kinase inhibition overcomes cisplatin resistance associated with high-risk TP53 mutations in head and neck cancer through mitotic arrest followed by senescence

artículo científico publicado en 2014

Lista de obras de

A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness

A general calculus of fitness landscapes finds genes under selection in cancers

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

Assessing predictions on fitness effects of missense variants in calmodulin

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4.

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation

Cdkn2a suppresses metastasis in squamous cell carcinomas induced by the gain-of-function mutant p53(R172H).

Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction

Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer.

Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication

Deleterious Effect of RAS and Evolutionary High-risk TP53 Double Mutation in Colorectal Liver Metastases

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature ⬇️

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge

Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients

Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer.

Evolutionary action of mutations reveals antimicrobial resistance genes in Escherichia coli

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Human muscle-specific A-kinase anchoring protein (mAKAP) polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/ PKA signaling.

Identification of evolutionarily stable sites across the SARS-CoV-2 proteome

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma

Negative feedback in genetic circuits confers evolutionary resilience and capacitance

Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling

Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Prediction and redesign of protein-protein interactions

Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP).

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING

Separation of recombination and SOS response in Escherichia coli RecA suggests LexA interaction sites

Single nucleotide variations: biological impact and theoretical interpretation

Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.

Structure and evolutionary trace-assisted screening of a residue swapping the substrate ambiguity and chiral specificity in an esterase

Targeting SARS-CoV-2 Nsp3 macrodomain structure with insights from human poly(ADP-ribose) glycohydrolase (PARG) structures with inhibitors

Uncovering DNA-PKcs ancient phylogeny, unique sequence motifs and insights for human disease

Wee-1 kinase inhibition overcomes cisplatin resistance associated with high-risk TP53 mutations in head and neck cancer through mitotic arrest followed by senescence