Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV or monogenic variants for patients with a normal...

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Main Authors: E. A. Fonova, A. A. Kashevarova, M. E. Lopatkina, A. A. Sivtsev, A. A. Zarubin, V. V. Demeneva, G. N. Seitova, L. I. Minaycheva, O. A. Salyukova, S. V. Fadyushina, V. V. Petrova, E. O. Belyaeva, L. P. Nazarenko, I. N. Lebedev
Format: Article
Language:English
Published: Cambridge University Press 2023-03-01
Series:European Psychiatry
Online Access:https://www.cambridge.org/core/product/identifier/S0924933823018795/type/journal_article

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https://www.cambridge.org/core/product/identifier/S0924933823018795/type/journal_article

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