The promise of whole-exome sequencing in medical genetics

B Rabbani, M Tekin, N Mahdieh - Journal of human genetics, 2014 - nature.com
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Proliferation control in neural stem and progenitor cells

CCF Homem, M Repic, JA Knoblich - Nature Reviews Neuroscience, 2015 - nature.com
Neural circuit function can be drastically affected by variations in the number of cells that are
produced during development or by a reduction in adult cell number owing to disease. For …

Recent Zika virus isolates induce premature differentiation of neural progenitors in human brain organoids

E Gabriel, A Ramani, U Karow, M Gottardo… - Cell stem cell, 2017 - cell.com
The recent Zika virus (ZIKV) epidemic is associated with microcephaly in newborns.
Although the connection between ZIKV and neurodevelopmental defects is widely …

The genetic architecture of morphological abnormalities of the sperm tail

A Touré, G Martinez, ZE Kherraf, C Cazin, J Beurois… - Human Genetics, 2021 - Springer
Spermatozoa contain highly specialized structural features reflecting unique functions
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …

The genetics of primary microcephaly

D Jayaraman, BI Bae, CA Walsh - Annual review of genomics …, 2018 - annualreviews.org
Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

Molecular genetics of human primary microcephaly: an overview

M Faheem, MI Naseer, M Rasool, AG Chaudhary… - BMC medical …, 2015 - Springer
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that
is characterised by microcephaly present at birth and non-progressive mental retardation …

Towards a molecular architecture of centriole assembly

P Gönczy - Nature reviews Molecular cell biology, 2012 - nature.com
The centriole is an evolutionarily conserved macromolecular structure that is crucial for the
formation of flagella, cilia and centrosomes. The ultrastructure of the centriole was first …

Centrosome amplification causes microcephaly

V Marthiens, MA Rujano, C Pennetier, S Tessier… - Nature cell …, 2013 - nature.com
Centrosome amplification is a hallmark of human tumours. In flies, extra centrosomes cause
spindle position defects that result in the expansion of the neural stem cell (NSC) pool and …

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

E Gabriel, A Wason, A Ramani, LM Gooi, P Keller… - The EMBO …, 2016 - embopress.org
A mutation in the centrosomal‐P4. 1‐associated protein (CPAP) causes Seckel syndrome
with microcephaly, which is suggested to arise from a decline in neural progenitor cells …

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

CA Martin, I Ahmad, A Klingseisen, MS Hussain… - Nature …, 2014 - nature.com
Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes
have been reported in primary microcephaly and Seckel syndrome, disorders without the …