Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, +59

npj Genomic Medicine

Association of LY9 in UK and Canadian SLE families

Deborah S. Cunninghame Graham, Timothy J. Vyse, Paul R. Fortin, +13

Genes and Immunity

Genome-wide Association StudyFamily HealthGenetic TestingGenetic EpidemiologyCanadian Sle Families +2

A majority of parents of children with peanut allergy fear using the epinephrine auto-injector

Lauren Chad, Moshe Ben‐Shoshan, Yuka Asai, +6

Allergy

AsthmaFood AllergyAllergy MedicineAllergenChildhood Food Allergy +16

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat, +150

Journal of Clinical Investigation

<scp>The point‐of‐care</scp> use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning

Ashish Marwaha, David Chitayat, M. Stephen Meyn, +2

American Journal of Medical Genetics Part A

The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing

Robin Z. Hayeems, Stephanie Luca, Wendy J. Ungar, +4

Genetics in Medicine

Understanding genetic variants of uncertain significance

Alyssa C. M. Joynt, Michelle M. Axford, Lauren Chad, +1

Paediatrics & Child Health

Phenotypic VariationUncertain SignificanceGeneticsGenetic EpidemiologyGenomics +24

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

Stephanie Luca, Marc Clausen, Angela Shaw, +13

Human Genetics

Conversational User InterfaceFamily MedicineChatbotHealth CommunicationQualitative Study +8

Update on antidepressant use during breastfeeding.

Lauren Chad, Anna Pupco, Pina Bozzo, +1

PubMed

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Zain Awamleh, Eric Chater‐Diehl, Sanaa Choufani, +10

European Journal of Human Genetics