Publications

477
Results
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Pilot and Feasibility Studies. 2023 March 22.
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.
Cancer Discovery. 2023 March 17.
Single-cell RNA sequencing unifies developmental programs of Esophageal and Gastric Intestinal Metaplasia.
Nature Methods. 2023 March 02.
In silico tissue generation and power analysis for spatial omics.
Brain. 2023 Feb. 17.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Bioinformatics. 2023 Feb. 16.
LDmat: Efficiently Queryable Compression of Linkage Disequilibrium Matrices.
Biophysical Journal. 2023 Feb. 10.
Behind sporadic ALS: A biophysical characterization of motor neurons in health and disease.
Neuron. 2023 Feb. 1.
A cellular taxonomy of the adult human spinal cord.
Blood Cancer Discovery. 2023 Feb. 1.
Molecular evolution of classic Hodgkin lymphoma revealed through whole genome sequencing of Hodgkin and Reed Sternberg cells.
BMC. 2023 Jan. 25.
Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis.
PLOS Genetics. 2023 Jan. 19.
Using epigenomics to understand cellular responses to environmental influences in diseases.
Schizophrenia Research. 2023 Jan. 14.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
medRxiv. 2023 Jan. 10.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Biomolecules. 2023 Jan. 9.
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Nature Biotechnology. 2023 Jan. 2.
Integration of whole transcriptome spatial profiling with protein markers.
Cold Spring Harbor Molecular Case Studies. 2022 Dec. 28.
Whole-genome characterization of myoepithelial carcinomas of the soft tissue.
American Journal of Medical Genetics. 2022 Dec. 23.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Nature Methods 2022 Dec. 22.
Efficient combinatorial targeting of RNA transcripts in single cells with Cas13 RNA Perturb-seq.
Nature Biotechnology. 2022 Dec. 19.