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Molecular Neuropsychiatry|May 14, 2020
DNA Variant in the <i>RPGRIP1L</i> Gene Influences Alternative SplicingEmma Reble, Yu Feng, Karen G Wigg, et al.
Psychiatric Genetics|January 27, 2017
VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophreniaEmma Reble, Christina A Castellani, Melkaye G Melka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2023
"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencingSalma Shickh, Chloe Mighton, Marc Clausen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2022
"Doctors shouldn't have to cheat the system": Clinicians' real-world experiences of the utility of genomic sequencingSalma Shickh, Chloe Mighton, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|March 29, 2021
Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findingsAgnes Sebastian, June C Carroll, Meredith Vanstone, et al.
European Journal of Medical Genetics|November 12, 2021
Challenges and practical solutions for managing secondary genomic findings in primary careAgnes Sebastian, June C Carroll, Meredith Vanstone, et al.
European Journal of Human Genetics : EJHG|May 30, 2025
The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics servicesSaumeh Saeedi, Daena Hirijkaka, Marc Clausen, et al.
Human Genetics|September 6, 2020
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findingsEmma Reble, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, et al.
JCO Precision Oncology|December 12, 2024
Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort StudySalma Shickh, Chloe Mighton, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|October 11, 2023
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screeningElla Adi-Wauran, Marc Clausen, Salma Shickh, et al.
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