← Stacey Gabriel

Papers by Stacey Gabriel

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101. Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms2017
102. Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide SignalingCirculation · 2017
103. A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 DiabetesDiabetes · 2017
104. Integrated Genomic Characterization of Pancreatic Ductal AdenocarcinomaCancer Cell · 2017
105. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal MelanomaCancer Cell · 2017
106. Systematic genomic and translational efficiency studies of uveal melanomaPLoS ONE · 2017
107. Comprehensive and Integrative Genomic Characterization of Hepatocellular CarcinomaCell · 2017
108. Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular ProfilesCell Reports · 2017
109. Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF MutationsCancer Discovery · 2017
110. Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart DiseaseCirculation Research · 2017
111. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes RiskDiabetes · 2017
112. Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery DiseaseJAMA · 2017
113. Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular ProfilesCell Reports · 2017
114. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanismsProceedings of the National Academy of Sciences · 2016
115. Technological considerations for genome-guided diagnosis and management of cancerGenome Medicine · 2016
116. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms2016
117. Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart StudyCirculation Cardiovascular Genetics · 2016
118. Development and Validation of a Mass Spectrometry–Based Assay for the Molecular Diagnosis of Mucin-1 Kidney DiseaseJournal of Molecular Diagnostics · 2016
119. Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent strokeNeurology · 2015
120. Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolutionNature Communications · 2015
121. Human knockouts in a cohort with a high rate of consanguinity2015
122. Analysis of protein-coding genetic variation in 60,706 humans2015
123. A global reference for human genetic variationCivil War Book Review · 2015
124. Genomic Classification of Cutaneous MelanomaCell · 2015
125. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeeLife · 2015
126. Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolutionGenome Research · 2015
127. Exome Sequencing in Suspected Monogenic DyslipidemiasCirculation Cardiovascular Genetics · 2015
128. Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 LocusPLoS Genetics · 2015
129. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and diseaseScience Translational Medicine · 2015
130. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyJournal of Clinical Investigation · 2015
131. Integrated Genomic Characterization of Papillary Thyroid CarcinomaCell · 2014
132. Association of exome sequences with plasma C-reactive protein levels in >9000 participantsHuman Molecular Genetics · 2014
133. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetesProceedings of the National Academy of Sciences · 2014
134. Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder PopulationPLoS Genetics · 2014
135. Comprehensive molecular characterization of gastric adenocarcinomaNature · 2014
136. Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino PopulationJAMA · 2014
137. Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemiaBlood · 2014
138. Activating mTOR Mutations in a Patient with an Extraordinary Response on a Phase I Trial of Everolimus and PazopanibCancer Discovery · 2014
139. Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximabMolecular Cancer · 2014
140. Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic VariantsCirculation Research · 2013
141. Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive HypercholesterolemiaArteriosclerosis Thrombosis and Vascular Biology · 2013
142. Germline Mutations Affecting Gα₁₁ in HypoparathyroidismNew England Journal of Medicine · 2013
143. A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and HypocholesterolemiaArteriosclerosis Thrombosis and Vascular Biology · 2013
144. Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparationNucleic Acids Research · 2013
145. Integrated genomic characterization of endometrial carcinomaFaculty of Health · 2013
146. Prognostically relevant gene signatures of high-grade serous ovarian carcinomaJournal of Clinical Investigation · 2012
147. The Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic LeukemiaBlood · 2012
148. Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutabilityGenome Research · 2012
149. DGAT1 mutation is linked to a congenital diarrheal disorderJournal of Clinical Investigation · 2012
150. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with EpilepsyScience · 2012