Detalhe da pesquisa
1.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet;
102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29276006
2.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet;
101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29100089
3.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet;
100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28575647
4.
Genome sequencing identifies major causes of severe intellectual disability.
Nature;
511(7509): 344-7, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24896178
5.
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Am J Hum Genet;
98(3): 553-561, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26924530
6.
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Am J Hum Genet;
96(4): 612-22, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25817016
7.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet;
97(2): 302-10, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26166480
8.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet;
97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26235985
9.
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
Hum Mutat;
38(5): 594-599, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28074630
10.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet;
24(25): 7171-81, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26443594
11.
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Am J Hum Genet;
94(5): 649-61, 2014 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24726472
12.
Mutations in MED12 cause X-linked Ohdo syndrome.
Am J Hum Genet;
92(3): 401-6, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23395478
13.
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
Hum Mol Genet;
22(15): 3138-51, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23575228
14.
Cantú syndrome is caused by mutations in ABCC9.
Am J Hum Genet;
90(6): 1094-101, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22608503
15.
Diagnostic exome sequencing in persons with severe intellectual disability.
N Engl J Med;
367(20): 1921-9, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23033978
16.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet;
89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21981781
17.
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
J Med Genet;
50(8): 507-14, 2013 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23644463
18.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
J Med Genet;
50(12): 802-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24123876
19.
Clinical significance of de novo and inherited copy-number variation.
Hum Mutat;
34(12): 1679-87, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24038936
20.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Hum Mutat;
34(11): 1519-28, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23929686