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Author Details

Kymberleigh A Pagel
The Institute for Computational Medicine, The Johns Hopkins University
2016
15
8
PMIDPaper TitleJournal TitlePublished Year
36921087Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.Am J Respir Crit Care Med2023
34549350Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.Hum Genet2022
36040739Association of Genetic Predisposition and Physical Activity With Risk of Gestational Diabetes in Nulliparous Women.JAMA Netw Open2022
36063163Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Genet Med2022
35101336Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Genet Med2022
32228266Integrated Informatics Analysis of Cancer-Related Variants.JCO Clin Cancer Inform2020
33219223Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.Nat Commun2020
31140652Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.Hum Mutat2019
31294896Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.Hum Mutat2019
31199787Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.PLoS Comput Biol2019
31144778Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.Hum Mutat2019
30566479The sequencing and interpretation of the genome obtained from a Serbian individual.PLoS One2018
28634997Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.Hum Mutat2017
28882004When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.Bioinformatics2017
27564311The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.PLoS Comput Biol2016
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Collaborators

Predrag Radivojac
Indiana University
Co-authored papers 11
Sean D Mooney
University of Washington
Co-authored papers 7
Vikas Pejaver
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai
Co-authored papers 6
Matthew Mort
Co-authored papers 5
David N Cooper
Institute of Medical Genetics, Cardiff University
Co-authored papers 5
Yuxiang Jiang
Indiana University
Co-authored papers 4
Rita Casadio
Department of Pharmacy and Biotechnology, University of Bologna
Co-authored papers 3
John Moult
Institute for Bioscience and Biotechnology Research
Co-authored papers 3
Pier Luigi Martelli
Department of Pharmacy and Biotechnology, University of Bologna
Co-authored papers 3
Steven E Brenner
University of California berkeley
Co-authored papers 3
Jonathan Sebat
University of California San Diego
Co-authored papers 3
Olivier Lichtarge
Baylor College of Medicine
Co-authored papers 3
Peter Horak
German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT)
Co-authored papers 2
Rashmi Kanagal-Shamanna
The University of Texas MD Anderson Cancer Center
Co-authored papers 2
Somak Roy
University of Cincinnati College of Medicine
Co-authored papers 2
Deborah I Ritter
Baylor College of Medicine
Co-authored papers 2
David Tamborero
Universitat Pompeu Fabra
Co-authored papers 2
Jeremy L Warner
Vanderbilt University Medical Center
Co-authored papers 2
Michael Y Tolstorukov
Dana-Farber Cancer Institute
Co-authored papers 2
Carlo Ferrari
University of Padua
Co-authored papers 2
Malachi Griffith
Washington University
Co-authored papers 2
Arpad M Danos
McDonnell Genome Institute, Washington University in St Louis School of Medicine
Co-authored papers 2
Harry Lesmana
Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute
Co-authored papers 2
Obi L Griffith
Washington University
Co-authored papers 2
Damian T Rieke
German Cancer Consortium and German Cancer Research Center
Co-authored papers 2
Xinjie Xu
Mayo Clinic
Co-authored papers 2
Castrense Savojardo
Department of Pharmacy and Biotechnology, University of Bologna
Co-authored papers 2
Debyani Chakravarty
Memorial Sloan Kettering Cancer Center
Co-authored papers 2
Beth A Pitel
Mayo Clinic
Co-authored papers 2
Lisa Barrow-Laing
Indiana University School of Medicine
Co-authored papers 2
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