Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

AR Paciorkowski, K Keppler‐Noreuil… - American journal of …, 2013 - Wiley Online Library
Abstract Deletions of 16p13. 11 have been associated with a variety of phenotypes, and
have also been found in normal individuals. We report on two unrelated patients with severe …

PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1

NJ Bradshaw, DC Soares, BC Carlyle… - Journal of …, 2011 - Soc Neuroscience
Nuclear distribution factor E-homolog 1 (NDE1), Lissencephaly 1 (LIS1), and NDE-like 1
(NDEL1) together participate in essential neurodevelopmental processes, including …

DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan

DJ Porteous, PA Thomson, JK Millar, KL Evans… - Molecular …, 2014 - nature.com
In a recent guest editorial, 1 Patrick Sullivan questioned several aspects of the original
Scottish t (1; 11) family in which the DISC1 gene was discovered. 2–4 He challenged the …

Genome-wide analysis of the role of copy number variation in schizophrenia risk in Chinese

Z Li, J Chen, Y Xu, Q Yi, W Ji, P Wang, J Shen… - Biological …, 2016 - Elsevier
Background Compelling evidence suggested the role of copy number variations (CNVs) in
schizophrenia susceptibility. Most of the evidence was from studies in populations with …

The duplication 17p13. 3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

CJ Curry, JA Rosenfeld, E Grant… - American Journal of …, 2013 - Wiley Online Library
Abstract Chromosome 17p13. 3 is a gene rich region that when deleted is associated with
the well‐known Miller–Dieker syndrome. A recently described duplication syndrome …

Genetic studies of schizophrenia: an update

J Chen, F Cao, L Liu, L Wang, X Chen - Neuroscience bulletin, 2015 - Springer
Schizophrenia (SCZ) is a complex and heterogeneous mental disorder that affects about 1%
of global population. In recent years, considerable progress has been made in genetic …

Analysis of copy number variation in Alzheimer's disease: the NIALOAD/NCRAD Family Study

S Swaminathan, L Shen, S Kim, M Inlow… - Current Alzheimer …, 2012 - ingentaconnect.com
Copy number variants (CNVs) are DNA regions that have gains (duplications) or losses
(deletions) of genetic material. CNVs may encompass a single gene or multiple genes and …

The genomics of schizophrenia: shortcomings and solutions

C Zhuo, W Hou, G Li, F Mao, S Li, X Lin, D Jiang… - Progress in Neuro …, 2019 - Elsevier
Due to recent advances in human genomic technologies, there have been explosive
interests and extensive research on the genomics of schizophrenia, a severe psychiatric …

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

RS Møller, YG Weber, LL Klitten, H Trucks, H Muhle… - …, 2013 - Wiley Online Library
Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal,
where they interact with postsynaptic neuroligins to form a transsynaptic complex required …

Genes and environments in schizophrenia: the different pieces of a manifold puzzle

JM Réthelyi, J Benkovits, I Bitter - Neuroscience & Biobehavioral Reviews, 2013 - Elsevier
Genetic research targeting schizophrenia has undergone tremendous development during
recent years. Supported by recently developed high-throughput genotyping technologies …