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The Journal of Nervous and Mental Disease|February 6, 2019
The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body OdorVanda McNiven, Sarah Mamane, Gwyneth Zai, et al.
Parkinsonism & Related Disorders|December 15, 2022
Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variantNikolai Gil D Reyes, Daniel G Di Luca, Vanda McNiven, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypesVanda McNiven, Yoko A Ito, Taila Hartley, et al.
Rheumatology International|October 5, 2015
Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with painSamantha Aliza Hershenfeld, Syed Wasim, Vanda McNiven, et al.
American Journal of Medical Genetics. Part A|January 14, 2021
SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1Vanda McNiven, Daniela Gattini, Iram Siddiqui, et al.
Clinical Genetics|February 14, 2026
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the LiteratureMichael P Mackley, Rae Brager, Hannah Geddie, et al.
Neuromuscular Disorders : NMD|October 9, 2022
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implicationsHebah Qashqari, Vanda McNiven, Hernan Gonorazky, et al.
Neurology. Genetics|January 15, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome SequencingAnastasia Ambrose, Vanda McNiven, Diane Wilson, et al.
Seminars in Nephrology|July 16, 2025
Educating the Next-Generation Expert in Nephrology GeneticsMatthew B Lanktree, Shaymaa Shurrab, Resham Ejaz, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2024
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disordersDavid C Calianese, Tomoyasu Noji, Jennifer A Sullivan, et al.
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