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Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
BMJ Open|June 18, 2026
Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profileAnjali K Henders, Laura Ziser, Fleur C Garton, et al.
Annals of Neurology|June 9, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral NeuropathyLuiza L P Ramos, Jevin M Parmar, Robin Wijngaard, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
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