Shannon Dugan-Perez

发表

Accounting for population structure in genetic studies of cystic fibrosis

S. Gabriel, R. Gibbs, M. Zody, 2022, HGG advances.

Genome Sequencing in the Parkinson Disease Clinic

C. Shaw, R. Gibbs, J. Jankovic, 2021, medRxiv.

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

Sina A. Gharib, L. Wain, N. Shrine, 2020, Nature Communications.

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Andrew D. Johnson, May E. Montasser, Nicholette D. Palmer, 2022, Nature Genetics.

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals

Andrew D. Johnson, Benjamin D. Heavner, Michael E. Hall, 2022, Nature Communications.

Genome sequencing unveils a regulatory landscape of platelet reactivity

Benjamin D. Heavner, May E. Montasser, Nicholette D. Palmer, 2019, Nature Communications.

Exome sequencing reveals novel genetic loci influencing obesity related traits in Hispanic children

R. Gibbs, D. Muzny, A. Sabo, 2017, Obesity.

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Andrew D. Johnson, Benjamin D. Heavner, Ryan D. Hernandez, 2022, Nature Genetics.

Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.

Sina A. Gharib, M. Fornage, S. Redline, 2022, American journal of human genetics.

Whole Exome Sequencing Identifies Novel Genes for Fetal Hemoglobin Response to Hydroxyurea in Children with Sickle Cell Anemia

R. Gibbs, E. Boerwinkle, D. Muzny, 2014, PloS one.

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Hiep D. Nguyen, J. Bressler, M. Fornage, 2018, Alzheimer's & Dementia.

Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group.

Michael M. Khayat, R. Gibbs, E. Boerwinkle, 2020, Journal of the National Cancer Institute.

Clonal haematopoiesis and risk of chronic liver disease

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2023, Nature.

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

Austin L. Brown, R. Gibbs, J. Mullikin, 2023, American journal of medical genetics. Part A.

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

R. Gibbs, D. Muzny, A. Sabo, 2016, Cold Spring Harbor molecular case studies.

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2023, EBioMedicine.

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multiethnic participants.

Sina A. Gharib, L. Wain, N. Shrine, 2020 .

Variant-specific inflation factors for assessing population stratification at the phenotypic variance level

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2021, Nature Communications.

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

Benjamin D. Heavner, May E. Montasser, Nicholette D. Palmer, 2021, bioRxiv.

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma

A. Sabo, B. Crompton, J. Schiffman, 2024, JAMA network open.