Detalhe da pesquisa
1.
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
Am J Hum Genet
; 109(8): 1500-1519, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931052
2.
Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.
Mol Psychiatry
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744992
3.
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Am J Med Genet A
; 191(1): 205-219, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317839
4.
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Am J Med Genet A
; 191(11): 2749-2756, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691301
5.
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
Mol Psychiatry
; 26(3): 772-783, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976085
6.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
7.
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Genet Med
; 23(5): 872-880, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564151
8.
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Am J Med Genet A
; 185(7): 2094-2101, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938623
9.
Polygenic risk scores differentiate schizophrenia patients with toxoplasma gondii compared to toxoplasma seronegative patients.
Compr Psychiatry
; 107: 152236, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721583
10.
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.
Am J Med Genet A
; 182(5): 1152-1166, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154651
11.
Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
BMC Psychiatry
; 20(1): 184, 2020 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321479
12.
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Proc Natl Acad Sci U S A
; 114(10): E1923-E1932, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28223510
13.
Protocol for the Emory University African American maternal stress and infant gut microbiome cohort study.
BMC Pediatr
; 19(1): 246, 2019 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31331308
14.
5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity.
Hum Mol Genet
; 25(12): 2437-2450, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060332
15.
HLA typing using genome wide data reveals susceptibility types for infections in a psychiatric disease enriched sample.
Brain Behav Immun
; 70: 203-213, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574260
16.
Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
BMC Psychiatry
; 18(1): 183, 2018 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29884173
17.
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.
J Neurosci Res
; 95(5): 1144-1160, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859486
18.
Correction to: Protocol for the Emory University African American Vaginal, oral, and gut microbiome in pregnancy cohort study.
BMC Pregnancy Childbirth
; 17(1): 395, 2017 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29179694
19.
Protocol for the Emory University African American Vaginal, Oral, and Gut Microbiome in Pregnancy Cohort Study.
BMC Pregnancy Childbirth
; 17(1): 161, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28571577
20.
Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
Am J Med Genet A
; 170A(4): 999-1006, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26738761