Mechanisms of origin, phenotypic effects and diagnostic implications of complex chromosome rearrangements

M Poot, T Haaf - Molecular syndromology, 2015 - karger.com
Complex chromosome rearrangements (CCRs) are currently defined as structural genome
variations that involve more than 2 chromosome breaks and result in exchanges of …

The inheritance of Tourette disorder: a review

DL Pauls, TV Fernandez, CA Mathews… - Journal of obsessive …, 2014 - Elsevier
Abstract Georges Gilles de la Tourette, in describing the syndrome that now bears his name,
observed that the condition aggregated within families. Over the last three decades …

A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants

Y Han, L Tan, T Zhou, L Yang, L Carrau, LA Lacko… - Cell Stem Cell, 2022 - cell.com
Population-based studies to identify disease-associated risk alleles typically require
samples from a large number of individuals. Here, we report a human-induced pluripotent …

Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways

C Cappi, H Brentani, L Lima, SJ Sanders, G Zai… - Translational …, 2016 - nature.com
Studies of rare genetic variation have identified molecular pathways conferring risk for
developmental neuropsychiatric disorders. To date, no published whole-exome sequencing …

Phenotypic impact of rare potentially damaging copy number variation in obsessive-compulsive disorder and chronic tic disorders

B Mahjani, R Birnbaum, A Buxbaum Grice, C Cappi… - Genes, 2022 - mdpi.com
Background: Recent studies report an important—and previously underestimated—role of
rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders …

Defining the human brain proteome using transcriptomics and antibody-based profiling with a focus on the cerebral cortex

E Sjöstedt, L Fagerberg, BM Hallström, A Häggmark… - PLoS …, 2015 - journals.plos.org
The mammalian brain is a complex organ composed of many specialized cells, harboring
sets of both common, widely distributed, as well as specialized and discretely localized …

De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability

WX Chen, B Liu, L Zhou, X Xiong, J Fu, ZF Huang… - Human Genomics, 2022 - Springer
Background Autism spectrum disorder (ASD) is often accompanied by intellectual disability
(ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not …

Progress in genetic studies of Tourette's syndrome

Y Qi, Y Zheng, Z Li, L Xiong - Brain sciences, 2017 - mdpi.com
Tourette's Syndrome (TS) is a complex disorder characterized by repetitive, sudden, and
involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and …

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease

WP Kloosterman, R Hochstenbach - Molecular cytogenetics, 2014 - Springer
Chromosomal aberrations include translocations, deletions, duplications, inversions,
aneuploidies and complex rearrangements. They underlie genetic disease in roughly 15 …

Tourette disorder and other tic disorders

TV Fernandez, MW State, C Pittenger - Handbook of Clinical Neurology, 2018 - Elsevier
Tourette disorder is a developmental neuropsychiatric condition characterized by vocal and
motor tics that can range in severity from mild to disabling. It represents one end of a …