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Journal of Medical Internet Research|March 16, 2021
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort StudyJianqiao Li, Margaret A Hojlo, Sampath Chennuri, et al.
JAMA Neurology|May 5, 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyKristen Zukosky, Katherine Meilleur, Bryan J Traynor, et al.
BJU International|May 12, 2019
Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratificationDouglas G Ward, Naheema S Gordon, Rebecca H Boucher, et al.
BMC Pediatrics|July 11, 2018
The BabySeq project: implementing genomic sequencing in newbornsIngrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, et al.
Medrxiv : the Preprint Server for Health Sciences|November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsYong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.
The Journal of Pathology|December 23, 2024
Tumour purity assessment with deep learning in colorectal cancer and impact on molecular analysisLydia A Schoenpflug, Aikaterini Chatzipli, Korsuk Sirinukunwattana, et al.
BJS Open|September 5, 2023
Risk-stratified faecal immunochemical testing (FIT) for urgent colonoscopy in Lynch syndrome during the COVID-19 pandemicAnne G Lincoln, Sally C Benton, Carolyn Piggott, et al.
American Journal of Human Genetics|December 23, 2006
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemiaHanna T Gazda, Agnieszka Grabowska, Lilia B Merida-Long, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
The Lancet. Planetary Health|March 25, 2019
Temperature-related changes in airborne allergenic pollen abundance and seasonality across the northern hemisphere: a retrospective data analysisLewis H Ziska, László Makra, Susan K Harry, et al.
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