Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska, +25

Journal of Medical Genetics

VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia

Emma Reble, Christina A. Castellani, Melkaye G. Melka, +2

Psychiatric Genetics

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

Salma Shickh, Mariana Salazar, Kathleen-Rose Zakoor, +34

Journal of Medical Genetics

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, +38

Genetics in Medicine

Intellectual ImpairmentPsychiatryMedicineGeneticsPsychiatric Genetics +5

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

Salma Shickh, Daena Hirjikaka, Marc Clausen, +24

BMJ Open

Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings

Emma Reble, Mariana Salazar, Kathleen-Rose Zakoor, +10

Human Genetics

Analytical PipelineClinical EffectivenessClinical Case ReportClinical EndpointPatient Safety +6

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial

Salma Shickh, Marc Clausen, Chloe Mighton, +24

BMJ Open

Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

Agnes Sebastian, June Carroll, Meredith Vanstone, +11

European Journal of Human Genetics

NursingFamily MedicinePrimary CareSecondary Genomic FindingsPrimary Care Providers +4

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

Marc Clausen, Suvetha Krishnapillai, Daena Hirjikaka, +26

Genetics in Medicine Open