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Ocular Oncology and Pathology|October 2, 2020
Muir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical PracticeMaya Eiger-Moscovich, Ralph C Eagle, Carol L Shields, et al.
Cancer Genetics|June 20, 2016
Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastomaHilary Racher, Sameh Soliman, Bob Argiropoulos, et al.
Viruses|November 20, 2020
Detection of SARS-CoV-2 from Saliva as Compared to Nasopharyngeal Swabs in OutpatientsChristopher Kandel, Jennifer Zheng, Janine McCready, et al.
Infection Control and Hospital Epidemiology|January 13, 2021
Detection of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) in outpatients: A multicenter comparison of self-collected saline gargle, oral swab, and combined oral-anterior nasal swab to a provider collected nasopharyngeal swabChristopher E Kandel, Matthew Young, Mihaela Anca Serbanescu, et al.
Human Mutation|April 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1Desiree DeMille, Jamie McDonald, Carmelo Bernabeu, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
Journal of Medical Genetics|March 13, 2025
Canadian consensus for the assessment and testing of Lynch syndromeMelyssa Aronson, Laura Palma, Kara Semotiuk, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
Journal of the National Cancer Institute|December 6, 2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families WorldwideSebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, et al.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
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