Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
[HTML][HTML] The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
R Azziz, E Carmina, D Dewailly… - Fertility and sterility, 2009 - Elsevier
OBJECTIVE: To review all available data and recommend a definition for polycystic ovary
syndrome (PCOS) based on published peer-reviewed data, whether already in use or not, to …
syndrome (PCOS) based on published peer-reviewed data, whether already in use or not, to …
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and
translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase …
translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase …
Genetic and epigenetic networks in intellectual disabilities
H Van Bokhoven - Annual review of genetics, 2011 - annualreviews.org
Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …
Network‐based global inference of human disease genes
Deciphering the genetic basis of human diseases is an important goal of biomedical
research. On the basis of the assumption that phenotypically similar diseases are caused by …
research. On the basis of the assumption that phenotypically similar diseases are caused by …
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition
characterized by developmentally atypical and impairing inattention, hyperactivity, and …
characterized by developmentally atypical and impairing inattention, hyperactivity, and …
Genome-wide inferring gene–phenotype relationship by walking on the heterogeneous network
Y Li, JC Patra - Bioinformatics, 2010 - academic.oup.com
Motivation: Clinical diseases are characterized by distinct phenotypes. To identify disease
genes is to elucidate the gene–phenotype relationships. Mutations in functionally related …
genes is to elucidate the gene–phenotype relationships. Mutations in functionally related …
[HTML][HTML] Prioritization of disease microRNAs through a human phenome-microRNAome network
Background The identification of disease-related microRNAs is vital for understanding the
pathogenesis of diseases at the molecular level, and is critical for designing specific …
pathogenesis of diseases at the molecular level, and is critical for designing specific …
The implications of human metabolic network topology for disease comorbidity
DS Lee, J Park, KA Kay, NA Christakis… - Proceedings of the …, 2008 - National Acad Sciences
Most diseases are the consequence of the breakdown of cellular processes, but the
relationships among genetic/epigenetic defects, the molecular interaction networks …
relationships among genetic/epigenetic defects, the molecular interaction networks …
[HTML][HTML] Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network
B Linghu, ES Snitkin, Z Hu, Y Xia, C DeLisi - Genome biology, 2009 - Springer
We integrate 16 genomic features to construct an evidence-weighted functional-linkage
network comprising 21,657 human genes. The functional-linkage network is used to …
network comprising 21,657 human genes. The functional-linkage network is used to …