Detalhe da pesquisa
1.
Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
bioRxiv;
2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38826276
2.
ARX regulates cortical interneuron differentiation and migration.
bioRxiv;
2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38895467
3.
High-resolution detection of copy number alterations in single cells with HiScanner.
bioRxiv;
2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746445
4.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet;
111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
5.
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.
Cell;
187(8): 1955-1970.e23, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503282
6.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
medRxiv;
2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496416
7.
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.
bioRxiv;
2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260600
8.
An evolutionary perspective on complex neuropsychiatric disease.
Neuron;
112(1): 7-24, 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38016473
9.
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.
Neurol Genet;
10(1): e200117, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149038
10.
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
bioRxiv;
2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38077003
11.
Shaping the brain: The emergence of cortical structure and folding.
Dev Cell;
58(24): 2836-2849, 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113850
12.
Neurosurgery elucidates somatic mutations.
Science;
382(6677): 1360-1362, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38127765
13.
Transcriptional Control of Neocortical Size and Microcephaly.
bioRxiv;
2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37961182
14.
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
Sci Data;
10(1): 813, 2023 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37985666
15.
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex.
bioRxiv;
2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37986891
16.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv;
2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873196
17.
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.
medRxiv;
2023 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790480
18.
Comparative transcriptomics reveals human-specific cortical features.
Science;
382(6667): eade9516, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37824638
19.
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Cell Genom;
3(8): 100356, 2023 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601975
20.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Nat Neurosci;
26(10): 1833, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644260