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American Journal of Medical Genetics. Part A|March 8, 2026
Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-IndexKyle Mahoney, Kelsey Crocker, Justin Blair, et al.
JCO Precision Oncology|August 13, 2020
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer PredispositionSuzanne P MacFarland, Kristin Zelley, Lea F Surrey, et al.
American Journal of Medical Genetics. Part A|May 16, 2017
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issuesMinjie Luo, Jinbo Fan, Tara L Wenger, et al.
Nucleic Acids Research|September 20, 2006
AccuTyping: new algorithms for automated analysis of data from high-throughput genotyping with oligonucleotide microarraysGuohong Hu, Hui-Yun Wang, Danielle M Greenawalt, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|July 24, 2019
Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling PathwayArchana Shenoy, Lea Surrey, Payal Jain, et al.
BMC Genomics|December 18, 2008
Lipopolysaccharide (LPS) potentiates hydrogen peroxide toxicity in T98G astrocytoma cells by suppression of anti-oxidative and growth factor gene expressionGang Yue, Guanfang Shi, Marco A Azaro, et al.
Cancer Genetics|July 4, 2020
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndromeStefan Rentas, Vinodh Pillai, Gerald B Wertheim, et al.
Cancer Genetics|November 6, 2025
Current state of diagnostic genetic testing in pediatric sarcoma: Survey and review by the Cancer Genomics Consortium Sarcoma Working GroupKathleen M Schieffer, Renu Bajaj, Selene C Koo, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Spatial and Single Cell Mapping of Castleman Disease Reveals Key Stromal Cell Types and Cytokine PathwaysDavid Smith, Anna Eichinger, Andrew Rech, et al.
Haematologica|March 7, 2020
Glanzmann thrombasthenia: genetic basis and clinical correlatesJuliana Perez Botero, Kristy Lee, Brian R Branchford, et al.
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