Detalhe da pesquisa
1.
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes.
Cell;
185(20): 3689-3704.e21, 2022 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36179666
2.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell;
161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25959774
3.
Induction of kidney-related gene programs through co-option of SALL1 in mole ovotestes.
Development;
150(17)2023 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37519269
4.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry;
24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29728705
5.
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
6.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain;
140(11): 2879-2894, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29053855
7.
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Hum Mutat;
38(4): 409-425, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28055140
8.
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
9.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Am J Hum Genet;
95(6): 729-35, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25434005
10.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet;
92(5): 681-95, 2013 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23623388
11.
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Am J Med Genet A;
170A(1): 94-102, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26358559
12.
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Hum Mutat;
36(12): 1155-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26290468
13.
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat;
36(1): 106-17, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25385192
14.
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Hum Mol Genet;
22(16): 3306-14, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23615299
15.
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Am J Hum Genet;
91(4): 694-702, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23000143
16.
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
J Med Genet;
51(7): 487-94, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24812067
17.
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Am J Hum Genet;
88(5): 628-34, 2011 May 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21549342
18.
Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads.
Bioinformatics;
28(7): 1024-5, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22302574
19.
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.
Bioinformatics;
28(5): 619-27, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22238266
20.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Am J Med Genet A;
161A(12): 3063-71, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24039113