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Nature Communications|July 2, 2025
Spatial and single cell mapping of castleman disease reveals key stromal cell types and cytokine pathwaysDavid Smith, Anna Eichinger, Éanna Fennell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing lossQiaoning Guan, Jorune Balciuniene, Kajia Cao, et al.
Haematologica|January 30, 2025
Integrated genomic analysis to reduce chromosomal analysis for the diagnosis of pediatric hematologic malignancies: addressing the shortage of cytogenetic technologistsDong Li, Sarah K Tasian, Gerald Wertheim, et al.
Human Mutation|October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genesMichael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Genome Research|December 31, 2005
Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21Danielle M Greenawalt, Xiangfeng Cui, Yujun Wu, et al.
Journal of the National Cancer Institute|May 3, 2024
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalenceMinjie Luo, Derek Wong, Kristin Zelley, et al.
Acta Neuropathologica Communications|July 14, 2022
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcomaFeng Xu, Angela N Viaene, Jenny Ruiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Blood Advances|January 26, 2021
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation PanelJustyne E Ross, Bing M Zhang, Kristy Lee, et al.
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