Publication: Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Date
Date
Date
Citations
Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L., Azzarello-Burri, S., Sheth, F., Datar, C., Verma, I. C., Puri, R. D., Zollino, M., Bachmann-Gagescu, R., Niedrist, D., Papik, M., Figueiro-Silva, J., Masood, R., Zweier, M., Kraemer, D., Lincoln, S., … Rauch, A. (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9), 2043–2058. https://doi.org/10.1038/s41436-019-0464-7
Abstract
Abstract
Abstract
PURPOSE
Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly.
METHODS
We performed clinical assessment, high-resolution chromosomal microarray analysis, exome sequencing, and functional studies in 62 patients (58% with primary microcephaly [PM], 27% with secondary microcephaly [SM], and 15% of unknown onset).
RESULTS
We found severity of developmental delay/intell
Additional indexing
Creators (Authors)
- Boonsawat, Paranchai
- Joset, Pascal
- Oneda, Beatrice
- Gogoll, Laura
- Azzarello-Burri, Silvia
- Sheth, Frenny
- Datar, Chaitanya
- Verma, Ishwar C
- Puri, Ratna Dua
- Zollino, Marcella
- Masood, Rahim
- Lincoln, Sharyn
- Rodan, Lance
- Steinfeld, Robert
- Plecko, Barbara
- Asadollahi, Reza
- Rauch, Anita
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Citations
Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L., Azzarello-Burri, S., Sheth, F., Datar, C., Verma, I. C., Puri, R. D., Zollino, M., Bachmann-Gagescu, R., Niedrist, D., Papik, M., Figueiro-Silva, J., Masood, R., Zweier, M., Kraemer, D., Lincoln, S., … Rauch, A. (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9), 2043–2058. https://doi.org/10.1038/s41436-019-0464-7
