A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

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 …

Cerebral organoids model human brain development and microcephaly

MA Lancaster, M Renner, CA Martin, D Wenzel… - Nature, 2013 - nature.com
The complexity of the human brain has made it difficult to study many brain disorders in
model organisms, highlighting the need for an in vitro model of human brain development …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

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 …

Centrosomes and cilia in human disease

M Bettencourt-Dias, F Hildebrandt, D Pellman… - Trends in Genetics, 2011 - cell.com
Centrioles are microtubule-derived structures that are essential for the formation of
centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal …

ATR signalling: more than meeting at the fork

EA Nam, D Cortez - Biochemical Journal, 2011 - portlandpress.com
Preservation of genome integrity via the DNA-damage response is critical to prevent
disease. ATR (ataxia telangiectasia mutated-and Rad3-related) is essential for life 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 …

Genetic evaluation of short stature

A Dauber, RG Rosenfeld… - The Journal of Clinical …, 2014 - academic.oup.com
Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

LS Bicknell, EMHF Bongers, A Leitch, S Brown… - Nature …, 2011 - nature.com
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive
primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly …