Search details
1.
Mobile interspersed repeats are major structural variants in the human genome.
Cell
; 141(7): 1171-82, 2010 Jun 25.
Article
in English
| MEDLINE | ID: mdl-20602999
2.
Identification and characterization of a missense mutation in the O-linked ß-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
J Biol Chem
; 292(21): 8948-8963, 2017 05 26.
Article
in English
| MEDLINE | ID: mdl-28302723
3.
StereoGene: rapid estimation of genome-wide correlation of continuous or interval feature data.
Bioinformatics
; 33(20): 3158-3165, 2017 Oct 15.
Article
in English
| MEDLINE | ID: mdl-29028265
4.
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
Hum Mol Genet
; 24(17): 4848-61, 2015 Sep 01.
Article
in English
| MEDLINE | ID: mdl-26056227
5.
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
Am J Med Genet A
; 170A(4): 881-90, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26804200
6.
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
Proc Natl Acad Sci U S A
; 108(12): 4920-5, 2011 Mar 22.
Article
in English
| MEDLINE | ID: mdl-21383172
7.
Affected Sib-Pair Analyses Identify Signaling Networks Associated With Social Behavioral Deficits in Autism.
Front Genet
; 10: 1186, 2019.
Article
in English
| MEDLINE | ID: mdl-31827489
8.
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Mol Genet Genomic Med
; 7(4): e00569, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30729724
9.
GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors.
Neuron
; 93(6): 1405-1419.e8, 2017 Mar 22.
Article
in English
| MEDLINE | ID: mdl-28285821
10.
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.
PLoS One
; 10(2): e0116454, 2015.
Article
in English
| MEDLINE | ID: mdl-25679214
11.
Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis.
Genome Biol
; 12(9): R93, 2011 Sep 28.
Article
in English
| MEDLINE | ID: mdl-21955804
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