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Ophthalmic Genetics|September 4, 2024
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, <i>CFAP410</i>, associated with selective cone degenerationGrace A Borchert, Morag E Shanks, Jennifer Whitfield, et al.
American Journal of Human Genetics|September 9, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset diseaseMorag E Shanks, Susan M Downes, Richard R Copley, et al.
American Journal of Human Genetics|December 27, 2016
De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeHannah Sleven, Seth J Welsh, Jing Yu, et al.
Ophthalmic Genetics|September 16, 2025
Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (<i>RGS9</i>)Grace A Borchert, Rachael C Heath Jeffery, Sian Sperring, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, 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.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
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