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Orphanet Journal of Rare Diseases|March 15, 2025
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohortsConnor J Lewis, Jean M Johnston, Silvia Zaragoza Domingo, et al.Journal of Medical Genetics|December 1, 2019
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndromeKaren M Knapp, Rosie Sullivan, Jennie Murray, et al.Journal of the American Academy of Child and Adolescent Psychiatry|September 25, 2016
Randomized, Controlled Trial of Intravenous Immunoglobulin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal InfectionsKyle A Williams, Susan E Swedo, Cristan A Farmer, et al.Neurology|May 15, 2016
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner, Barbara Trommer, Audrey Thurm, et al.Scientific Reports|June 2, 2022
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorderBenjamin J Grosso, Audra A Kramer, Sidharth Tyagi, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literatureMalena Daich Varela, Priyam Jani, Wadih M Zein, et al.Brain Communications|June 4, 2025
Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseasesConnor J Lewis, Zeynep Vardar, Anna Luisa Kühn, et al.Human Mutation|February 12, 2019
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2Ellen F Macnamara, Alanna E Koehler, Precilla D'Souza, et al.Medrxiv : the Preprint Server for Health Sciences|March 4, 2025
A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative DiseasesConnor J Lewis, Jean M Johnston, Precilla D'Souza, et al.Frontiers in Neuroimaging|October 1, 2024
Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patientsChristopher Zoppo, Josephine Kolstad, Jean Johnston, et al.Pageof 4