Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Leora Witkowski, Jian Carrot‐Zhang, Steffen Albrecht, +39

Nature Genetics

Somatic Smarca4 MutationsSomatic VariantHypercalcemic TypeSmall Cell CarcinomaGynecology +6

Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing

Srinivas R. Viswanathan, Gavin Ha, Andreas Hoff, +27

Cell

Long-read SequencingLinked-read Genome SequencingUrologyFunctional GenomicsNext-generation Sequencing +11

Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer

Jian Carrot‐Zhang, Nyasha Chambwe, Jeffrey S. Damrauer, +24

Cancer Cell

Genetic AnalysisTumor HeterogeneityMedicineGeneticsGenetic Epidemiology +11

Genomic and immune profiling of pre-invasive lung adenocarcinoma

Haiquan Chen, Jian Carrot‐Zhang, Yue Zhao, +37

Nature Communications

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Bárbara Rivera, Tenzin Gayden, Jian Carrot‐Zhang, +37

Acta Neuropathologica

Neuro-oncologyTumoral PathologyPathologySomatic Fgfr1 AbnormalitiesMedicine +1

Germline RECQL mutations are associated with breast cancer susceptibility

Cezary Cybulski, Jian Carrot‐Zhang, Wojciech Kluźniak, +24

Nature Genetics

Breast OncologyGermline Recql MutationsPathologyBreast CancerCancer Genetics +1

Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations

Jian Carrot‐Zhang, Giovanny Soca‐Chafre, Nick Patterson, +15

Cancer Discovery

Automated real-world data integration improves cancer outcome prediction

Justin Jee, Christopher J. Fong, Karl Pichotta, +64

Nature

Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors

Amin H. Nassar, Elio Adib, Sarah Abou Alaiwi, +29

Cancer Cell

Tumor Mutational BurdenCancer ImmunosurveillanceTumor HeterogeneityMedicineImmunology +10

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Frank Rauch, Somayyeh Fahiminiya, Jacek Majewski, +6

The American Journal of Human Genetics

Cole-carpenter Syndrome IsMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +6