Implications of gene copy-number variation in health and diseases

SH Almal, H Padh - Journal of human genetics, 2012 - nature.com
Inter-individual genomic variations have recently become evident with advances in
sequencing techniques and genome-wide array comparative genomic hybridization. Among …

Neuronal impact of patient-specific aberrant NRXN1α splicing

E Flaherty, S Zhu, N Barretto, E Cheng, PJM Deans… - Nature …, 2019 - nature.com
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …

Neurexins and neuropsychiatric disorders

E Kasem, T Kurihara, K Tabuchi - Neuroscience research, 2018 - Elsevier
Neurexins are a family of presynaptic single-pass transmembrane proteins that act as
synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2 …

Copy number and SNP arrays in clinical diagnostics

CP Schaaf, J Wiszniewska… - Annual review of …, 2011 - annualreviews.org
The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic
abnormalities has revolutionized the clinical diagnostic approach to individuals with …

Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia

MS Breen, A Dobbyn, Q Li, P Roussos… - Nature …, 2019 - nature.com
RNA editing critically regulates neurodevelopment and normal neuronal function. The global
landscape of RNA editing was surveyed across 364 schizophrenia cases and 383 control …

The genetics of neurodevelopmental disease

KJ Mitchell - Current opinion in neurobiology, 2011 - Elsevier
The term neurodevelopmental disorder encompasses a wide range of diseases, including
recognizably distinct syndromes known to be caused by very rare mutations in specific …

The specific α-neurexin interactor calsyntenin-3 promotes excitatory and inhibitory synapse development

KL Pettem, D Yokomaku, L Luo, MW Linhoff, T Prasad… - Neuron, 2013 - cell.com
Perturbations of cell surface synapse-organizing proteins, particularly α-neurexins,
contribute to neurodevelopmental and psychiatric disorders. From an unbiased screen, we …

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

EA Maury, MA Sherman, G Genovese, TG Gilgenast… - Cell genomics, 2023 - cell.com
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the
contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains …

Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder

M Herrera-Rivero, K Gutiérrez-Fragoso, J Kurtz… - Translational …, 2024 - nature.com
The link between bipolar disorder (BP) and immune dysfunction remains controversial.
While epidemiological studies have long suggested an association, recent research has …

What is complex about complex disorders?

KJ Mitchell - Genome biology, 2012 - Springer
What is complex about complex disorders? | Genome Biology Skip to main content SpringerLink
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