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American Journal of Medical Genetics. Part A|June 9, 2025
Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic VariantsEric Lin, Tania Cruz-Marino, Nicolas Chrestian, et al.
Journal of Pediatric Genetics|August 15, 2018
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, et al.
Journal of Family Medicine and Primary Care|April 23, 2026
Assessment of populations' knowledge and willingness to receive Herpes Zoster Vaccine: A cross-sectional study from Qassim Region, Saudi ArabiaSally Abdullah Alolayan, Amel Abdalrahim Sulaiman, Faisal Saleh Almogbel, et al.
Discover Oncology|June 23, 2026
Combination of p-STAT5, CRLF2 and copy number alterations as a potential indicator of a high-risk subgroup of acute lymphoblastic leukemiaEman O Rasekh, Maha Saleh, Marwa Hanafy, et al.
American Journal of Medical Genetics. Part A|August 20, 2021
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohortDavid Heikoop, Lauren Brick, David Chitayat, et al.
Journal of Human Genetics|October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern OntarioErfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.
Peerj|September 18, 2023
Physical activity and health-related quality of life among adults living in Jeddah city Saudi ArabiaOla Akram Abdulrashid, Hassan Bin Usman Shah, Wijdan Abdulkareem Baeshen, et al.
Clinical Genetics|June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort StudyAlexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Brain : a Journal of Neurology|December 16, 2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegalyGarrett Allington, Neel H Mehta, Evan Dennis, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
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