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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
JAMA Neurology|June 13, 2025
Computed Tomography Perfusion and Angiography for Death by Neurologic CriteriaMichaël Chassé, Jai Jai Shiva Shankar, Dean A Fergusson, et al.
JAMA|April 30, 2026
Management of Chronic Subdural Hematoma With Adjunctive Embolization of Middle Meningeal Artery: The EMMA-Can Randomized Clinical TrialJai Jai Shiva Shankar, Susan Alcock, Nima Kashani, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Genome Medicine|January 26, 2023
The genomic landscape of rare disorders in the Middle EastMaha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Stroke|January 26, 2024
Quality of Life After Intravenous Thrombolysis for Acute Ischemic Stroke: Results From the AcT Randomized Controlled TrialTolulope T Sajobi, Olayinka I Arimoro, Ayoola Ademola, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
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