The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Simone SchröderGökhan YigitYun LiJanine AltmüllerHans-Martin BüttelBarbara FiedlerChristoph KretzschmarPeter NürnbergJürgen SeegerValentina SerpieriEnza Maria ValenteBernd WollnikEugen BoltshauserKnut Brockmann

Published in: Orphanet journal of rare diseases (2023)

Our findings indicate marked etiologic heterogeneity in COMA with detection of causative mutations in 81% (17/21) in our cohort and nine different genes being affected, mostly genes associated with JBTS. We provide a diagnostic algorithm for COMA.

Keyphrases

genome wide
machine learning
single cell
loop mediated isothermal amplification
deep learning
real time pcr
dna methylation
label free
copy number
bioinformatics analysis
genome wide identification
neural network
optic nerve
optical coherence tomography