Genome sequencing reanalysis increases the diagnostic yield in dystonia

Avi Fellner; Gurusidheshwar M. Wali; Neil Mahant; Bianca R. Grosz; Melina Ellis; Ramesh K. Narayanan; Karl Ng; Ryan L. Davis; Michel Tchan; Katya Kotschet; Dennis Yeow; Laura Ivete Rudaks; Sue‐Faye Siow; Gautam Wali; Con Yiannikas; Matthew Hobbs; Joseph Copty; Michael P. Geaghan; Paul Darveniza; Christina Liang; Laura Williams; Florence Chang; Hugo Morales‐Briceño; Stephen Tisch; Mike Hayes; Scott Whyte; Sarah Kummerfeld; Marina Kennerson; Mark J. Cowley; Victor S.C. Fung; Carolyn M. Sue; Kishore R. Kumar

doi:10.1016/j.parkreldis.2024.107010

Abstract

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We investigated the contribution of genomic data reanalysis to the diagnostic yield of dystonia patients who remained undiagnosed after prior genome sequencing.

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Fellner et al. (2024) studied this question.

synapsesocial.com/papers/68e6a284b6db643587625e77 https://doi.org/10.1016/j.parkreldis.2024.107010

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Abstract

This is the authors' abstract. We don't add key points for this paper.

We investigated the contribution of genomic data reanalysis to the diagnostic yield of dystonia patients who remained undiagnosed after prior genome sequencing.

Genome sequencing reanalysis increases the diagnostic yield in dystonia

Abstract

Discussion

Cite This Study

Genome sequencing reanalysis increases the diagnostic yield in dystonia

Abstract

Discussion

Cite This Study

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