Detalhe da pesquisa
1.
Single-cell epigenomics reveals mechanisms of human cortical development.
Nature;
598(7879): 205-213, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34616060
2.
Telomere-to-telomere assembly of a complete human X chromosome.
Nature;
585(7823): 79-84, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32663838
3.
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.
Genome Res;
31(9): 1513-1518, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34301630
4.
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Am J Hum Genet;
105(6): 1274-1285, 2019 12 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31785789
5.
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
PLoS Genet;
9(3): e1003349, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23555275
6.
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Nat Genet;
53(8): 1125-1134, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34312540
7.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun;
11(1): 4932, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33004838
8.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun;
11(1): 5398, 2020 Oct 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33087701
9.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Nat Commun;
10(1): 4679, 2019 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31616000
10.
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Genome Med;
9(1): 101, 2017 11 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29179772
11.
Genome-wide significance testing of variation from single case exomes.
Nat Genet;
48(12): 1455-1461, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27776118