Detalhe da pesquisa
1.
A genotype-first approach to defining the subtypes of a complex disease.
Cell
; 156(5): 872-7, 2014 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24581488
2.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24998929
3.
Human placental lactogen (human chorionic somatomammotropin) and oxytocin during pregnancy: Individual patterns and associations with maternal-fetal attachment, anxiety, and depression.
Horm Behav
; 163: 105560, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723407
4.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nature
; 536(7615): 205-9, 2016 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27487209
5.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 28(17): 2900-2919, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127942
6.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
7.
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
8.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363768
9.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Am J Hum Genet
; 98(1): 58-74, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749308
10.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
11.
denovo-db: a compendium of human de novo variants.
Nucleic Acids Res
; 45(D1): D804-D811, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27907889
12.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 29(5): 877-878, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027362
13.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(4): 689, 2017 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388435
14.
Complete sequence of the closed circular extrachromosomal element of Naegleria pringsheimi De Jonckheere (strain Singh).
Microbiol Resour Announc
; 13(4): e0080623, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509051
15.
In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.
HGG Adv
; 5(3): 100298, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38654521
16.
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
HGG Adv
; 5(3): 100306, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734904
17.
Complete Sequence of the Closed Circular Extrachromosomal Element of Naegleria jadini Willaert and Ray (Strain ITMAP400).
Microbiol Resour Announc
; 12(4): e0006123, 2023 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995246
18.
GluN2D Subunit in Parvalbumin Interneurons Regulates Prefrontal Cortex Feedforward Inhibitory Circuit and Molecular Networks Relevant to Schizophrenia.
Biol Psychiatry
; 94(4): 297-309, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004850
19.
Complete sequence of the closed circular extrachromosomal element (CERE) of Naegleria australiensis De Jonckheere (strain PP 397).
Microbiol Resour Announc
; 12(10): e0032123, 2023 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750728
20.
Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020-2021.
Front Microbiol
; 13: 878342, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663859