K. Pagel

发表

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

J. Sebat, L. Iakoucheva, P. Radivojac, 2020, Nature Communications.

High-Throughput Prediction of MHC Class I and II Neoantigens with MHCnuggets

V. Velculescu, R. Karchin, C. Tokheim, 2019, Cancer Immunology Research.

MutPred2: inferring the molecular and phenotypic impact of amino acid variants

Lilia M. Iakoucheva, Predrag Radivojac, Jose Lugo-Martinez, 2017, bioRxiv.

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

Silvio C. E. Tosatto, Stephen J. Wilson, Lipika R. Pal, 2019, Human mutation.

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

P. Radivojac, R. Casadio, O. Lichtarge, 2019, Human mutation.

The sequencing and interpretation of the genome obtained from a Serbian individual

Matthew W. Hahn, Simo V. Zhang, P. Radivojac, 2018, PloS one.

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

Lipika R. Pal, R. Altman, S. Brenner, 2019, Human mutation.

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Alexander A. Morgan, Yanay Ofran, Predrag Radivojac, 2017, Human mutation.

Association of Genetic Predisposition and Physical Activity With Risk of Gestational Diabetes in Nulliparous Women

S. Natarajan, P. Radivojac, U. Reddy, 2022, JAMA network open.

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.

M. Rosenfeld, M. Bamshad, K. Hetrick, 2022, American journal of human genetics.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

S. Brenner, H. Rehm, P. Radivojac, 2022, American journal of human genetics.

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

S. Brenner, P. Radivojac, S. Mooney, 2022, bioRxiv.

The influence of genetic predisposition and physical activity on risk of Gestational Diabetes Mellitus in the nuMoM2b cohort

P. Radivojac, U. Reddy, R. Silver, 2022, medRxiv.

Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models

L. Iakoucheva, P. Radivojac, A. Pramod, 2021, Human Genetics.

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

Lilia M. Iakoucheva, Predrag Radivojac, Sean D. Mooney, 2017, Bioinform..

Standards 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).

O. Griffith, M. Tolstorukov, M. Griffith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

Predrag Radivojac, Jose Lugo-Martinez, Sean D. Mooney, 2016, PLoS Comput. Biol..

Alu insertion polymorphisms shared by Papio baboons and Theropithecus gelada reveal an intertwined common ancestry

Miriam K. Konkel, Bronwen L. Aken, Fergal J. Martin, 2019, Mobile DNA.

Integrated Informatics Analysis of Cancer-Related Variants

R. Karchin, C. Tokheim, K. Pagel, 2020, JCO clinical cancer informatics.

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Lilia M. Iakoucheva, Predrag Radivojac, Sean D. Mooney, 2019, PLoS Comput. Biol..

OpenCRAVAT, an open source collaborative platform for the annotation of human genetic variation

Michael J. Ryan, Collin Tokheim, Ben Busby, 2019 .

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients.

M. Rosenfeld, M. Bamshad, Yun Li, 2023, American journal of respiratory and critical care medicine.

O. Griffith, M. Tolstorukov, M. Griffith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Alu insertion polymorphisms shared by Papio baboons and Theropithecus gelada reveal an intertwined common ancestry

Miriam K. Konkel, Bronwen L. Aken, Christina M. Bergey, 2019, Mobile DNA.

High-throughput prediction of MHC Class I and Class II neoantigens with MHCnuggets

V. Velculescu, R. Karchin, C. Tokheim, 2019, bioRxiv.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

The clinical utility of sequencing the entirety of CFTR.

K. Hetrick, K. Buckingham, M. Aksit, 2024, Journal of Cystic Fibrosis.