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O. Lichtarge · SciRah

Researcher profile · Semantic Scholar

O. Lichtarge

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O. Lichtarge — researcher profile on SciRah

h-index: 55
Works: 226
Citations: 17K

Most-cited papers

Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma
A. Ally, M. Balasundaram, R. Carlsen, E. Chuah +232 more
2017Cell2,309 citations Open access
Semantic Scholar
Pathogenic germline variants in 10,389 adult cancers
Kuan-Lin Huang, R. Mashl, Yi-Ge Wu, D. Ritter +43 more
2018Cell752 citations Open access
Semantic Scholar
Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas
L. Donehower, T. Soussi, A. Korkut, Yue-Xin Liu +9 more
2019Cell Reports568 citations Open access
Semantic Scholar
The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens
Nai-Hui Zhou, Yuxiang Jiang, T. Bergquist, Alexandra J. Lee +163 more
2019Genome Biology451 citations Open access
Semantic Scholar
Evolutionary Action score of TP53 (EAp53) identifies high risk mutations associated with decreased survival and increased distant metastases in head and neck cancer
David M. Neskey, A. Osman, T. Ow, Panagiotis Katsonis +20 more
2015Cancer Research156 citations Open access
Semantic Scholar
Deleterious Effect of RAS and Evolutionary High Risk TP53 Double Mutation in Colorectal Liver Metastases
Yun S. Chun, G. Passot, S. Yamashita, M. Nusrat +10 more
2017Annals of Surgery150 citations Open access
Semantic Scholar
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures
Vincenzo A. Gennarino, E. Palmer, Laura M McDonell, Li Wang +37 more
2018Cell130 citations Open access
Semantic Scholar
Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas.
L. Donehower, T. Soussi, A. Korkut, Yue-Xin Liu +9 more
2019Cell Reports90 citations Open access
Semantic Scholar
Genome interpretation using in silico predictors of variant impact
Panagiotis Katsonis, Kevin Wilhelm, A. Williams, O. Lichtarge
2022Human Genetics71 citations Open access
Semantic Scholar
Evolutionary action and structural basis of the allosteric switch controlling β2AR functional selectivity
Anne-Marie Schonegge, Jonathan Gallion, Louis-Philippe Picard, A. Wilkins +7 more
2017Nature Communications71 citations Open access
Semantic Scholar
Type 2 diabetes–associated variants of the MT2 melatonin receptor affect distinct modes of signaling
A. Karamitri, B. Plouffe, A. Bonnefond, Min Chen +13 more
2018Science Signaling62 citations
Semantic Scholar
Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival
L. Mullany, Kwong K. Wong, D. Marciano, Panagiotis Katsonis +4 more
2015Neoplasia55 citations Open access
Semantic Scholar
Uncovering DNA-PKcs ancient phylogeny, unique sequence motifs and insights for human disease
J. Lees-Miller, Alexander Cobban, Panagiotis Katsonis, A. Bacolla +7 more
2020Progress in Biophysics and Molecular Biology53 citations Open access
Semantic Scholar
Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2
Byung-Kwon Choi, Tajhal Dayaram, Neha Parikh, A. Wilkins +21 more
2018Proceedings of the National Academy of Sciences of the United States of America52 citations Open access
Semantic Scholar
Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer
Amritha Nair, Hsiang-Ching Chung, Ting-Ting Sun, S. Tyagi +33 more
2018Nature Medicine52 citations Open access
Semantic Scholar
Targeting SARS-CoV-2 Nsp3 macrodomain structure with insights from human poly(ADP-ribose) glycohydrolase (PARG) structures with inhibitors
C. Brosey, Jerry H. Houl, Panagiotis Katsonis, L.P.F. Balapiti-Modarage +10 more
2021Progress in Biophysics and Molecular Biology51 citations Open access
Semantic Scholar
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways
C. Clarke, Panagiotis Katsonis, Teng-Kuei Hsu, A. Koire +11 more
2018Journal of the Endocrine Society49 citations Open access
Semantic Scholar
Human GLP1R variants affecting GLP1R cell surface expression are associated with impaired glucose control and increased adiposity
Wenwen Gao, Lei Liu, E. Huh, F. Gbahou +19 more
2023Nature Metabolism47 citations Open access
Semantic Scholar
β2-Adrenergic receptor activation mobilizes intracellular calcium via a non-canonical cAMP-independent signaling pathway
Mónica-Laura Galaz-Montoya, Sara J. Wright, Gustavo J. Rodríguez, O. Lichtarge +1 more
2017Journal of Biological Chemistry41 citations Open access
Semantic Scholar
Intramolecular allosteric communication in dopamine D2 receptor revealed by evolutionary amino acid covariation
Yun-Min Sung, A. Wilkins, Gustavo J. Rodríguez, T. Wensel +1 more
2016Proceedings of the National Academy of Sciences of the United States of America37 citations Open access
Semantic Scholar
Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma
Amit Sharma, A. Biswas, Hong-De Liu, Sagnik Sen +11 more
2019Cancers34 citations Open access
Semantic Scholar
Exploring use of unsupervised clustering to associate signaling profiles of GPCR ligands to clinical response
Besma Benredjem, Jonathan Gallion, D. Pelletier, Paul Dallaire +15 more
2019Nature Communications33 citations Open access
Semantic Scholar
Cdkn2a suppresses metastasis in squamous cell carcinomas induced by the gain-of-function mutant p53R172H
Zhong-You Li, Cassandra L. Gonzalez, Bing-Bing Wang, Yuan-Yuan Zhang +6 more
2016Journal of Pathology33 citations Open access
Semantic Scholar
Objective Assessment of the Evolutionary Action Equation for the Fitness Effect of Missense Mutations Across CAGI Blinded Contests
Panagiotis Katsonis, O. Lichtarge
2017Human Mutation31 citations Open access
Semantic Scholar
Gnathodiaphyseal Dysplasia: Severe Atypical Presentation with Novel Heterozygous Mutation of the Anoctamin Gene (ANO5)
G. Otaify, M. Whyte, G. Gottesman, W. Mcalister +12 more
2017Bone31 citations Open access
Semantic Scholar
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
C. Bocchini, Karen Nahmod, Panagiotis Katsonis, Sang Kim +5 more
2016Blood30 citations Open access
Semantic Scholar
Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease
T. Bourquard, Kwanghyuk Lee, I. Al-Ramahi, M. Pham +12 more
2023Nature Communications28 citations Open access
Semantic Scholar
Human Mutation
Panagiotis Katsonis, O. Lichtarge
201928 citations
Semantic Scholar
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
M. Almannai, Julia Wang, Hongzheng Dai, A. El-Hattab +15 more
2018Molecular Genetics and Metabolism28 citations
Semantic Scholar
Evolution of cisplatin resistance through coordinated metabolic reprogramming of the cellular reductive state
Yu Wang, Yun-Yun Chen, N. Putluri, A. Osman +31 more
2023British Journal of Cancer27 citations Open access
Semantic Scholar
Evolutionary action of mutations reveals antimicrobial resistance genes in Escherichia coli
D. Marciano, Chen Wang, Teng-Kuei Hsu, T. Bourquard +10 more
2022Nature Communications27 citations Open access
Semantic Scholar
Predicting phenotype from genotype: improving accuracy through more robust experimental and computational modeling
Jonathan Gallion, A. Koire, Panagiotis Katsonis, Anne‐Marie Schoenegge +2 more
2017Human Mutation27 citations Open access
Semantic Scholar
A Method to Delineate De novo Missense Variants across Pathways Prioritizes Genes Linked to Autism
A. Koire, Panagiotis Katsonis, Young Won Kim, Christie Buchovecky +2 more
2021Science Translational Medicine25 citations Open access
Semantic Scholar
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
F. Marbach, Georgi Stoyanov, F. Erger, C. Stratakis +25 more
2020Genetics in Medicine24 citations Open access
Semantic Scholar
Identification of risk genes for Alzheimer’s disease by gene embedding
Yashwanth Lagisetty, T. Bourquard, I. Al-Ramahi, C. G. Mangleburg +6 more
2022Cell Genomics21 citations Open access
Semantic Scholar
Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016
W. Clark, Laura Kasak, C. Bakolitsa, Zhi-Qiang Hu +29 more
2019Human Mutation19 citations Open access
Semantic Scholar
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Melissa S. Cline, G. Babbi, S. Bonache, Yue Cao +27 more
2019Human Mutation19 citations Open access
Semantic Scholar
Multimodal network diffusion predicts future disease-gene-chemical associations
Chih-Hsu Lin, Daniel M. Konecki, Meng Liu, Stephen J. Wilson +4 more
2018Bioinform.19 citations Open access
Semantic Scholar
Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4
Qifang Xu, Q. Tang, Panagiotis Katsonis, O. Lichtarge +9 more
2017Human Mutation19 citations Open access
Semantic Scholar
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
S. L. Stenton, M. O’Leary, G. Lemire, G. VanNoy +70 more
2023Human Genomics18 citations Open access
Semantic Scholar
Using interpretable deep learning to model cancer dependencies
Chih-Hsu Lin, O. Lichtarge
2021Bioinform.18 citations Open access
Semantic Scholar
Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease
Young Won Kim, I. Al-Ramahi, A. Koire, Stephen J. Wilson +5 more
2020Alzheimer's & Dementia18 citations Open access
Semantic Scholar
CRISPR-FRT targets shared sites in a knock-out collection for off-the-shelf genome editing
Toon Swings, D. Marciano, Benu Atri, Rachel E. Bosserman +11 more
2018Nature Communications18 citations Open access
Semantic Scholar
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge
Castrense Savojardo, M. Petrosino, G. Babbi, Samuele Bovo +21 more
2019Human Mutation17 citations Open access
Semantic Scholar
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge
Marco Carraro, A. Monzon, Luigi Chiricosta, F. Reggiani +22 more
2019Human Mutation16 citations Open access
Semantic Scholar
Assessment of methods for predicting the effects of PTEN and TPMT protein variants
V. Pejaver, G. Babbi, R. Casadio, Lukas Folkman +12 more
2019Human Mutation16 citations Open access
Semantic Scholar
REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING
A. Koire, Panagiotis Katsonis, O. Lichtarge
2016Pacific Symposium on Biocomputing16 citations Open access
Semantic Scholar
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
Marco Carraro, Giovanni Minervini, Manuel Giollo, Y. Bromberg +27 more
2017Human Mutation15 citations Open access
Semantic Scholar
Decoding Cancer Variants of Unknown Significance for Helicase–Nuclease–RPA Complexes Orchestrating DNA Repair During Transcription and Replication
S. Tsutakawa, A. Bacolla, Panagiotis Katsonis, Amer Bralić +4 more
2021Frontiers in Molecular Biosciences14 citations Open access
Semantic Scholar
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
G. McInnes, Roxana Daneshjou, Panagiostis Katsonis, O. Lichtarge +18 more
2019Human Mutation13 citations Open access
Semantic Scholar

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G. Babbi — researcher profile on SciRah

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