Detalhe da pesquisa
1.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
2.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
3.
A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome.
Mol Psychiatry
; 28(1): 341-353, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192458
4.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Mol Psychiatry
; 28(5): 2071-2080, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869225
5.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
6.
Autism genetics: opportunities and challenges for clinical translation.
Nat Rev Genet
; 18(6): 362-376, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28260791
7.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
8.
Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model.
Psychol Med
; 52(14): 3184-3192, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443009
9.
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
10.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Hum Mol Genet
; 28(22): 3724-3733, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884517
11.
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.
Mol Psychiatry
; 25(11): 2818-2831, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358905
12.
Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.
Curr Psychiatry Rep
; 23(3): 13, 2021 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625600
13.
Double hits in schizophrenia.
Hum Mol Genet
; 27(15): 2755-2761, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767709
14.
Low prevalence of substance use in people with 22q11.2 deletion syndrome.
Br J Psychiatry
; 215(5): 661-667, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30604657
15.
Contemplating syndromic autism.
Genet Med
; 25(10): 100919, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330697
16.
White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline.
Psychol Med
; 48(10): 1655-1663, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143717
17.
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.
Am J Med Genet A
; 176(10): 2182-2191, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194907
18.
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Am J Med Genet A
; 176(10): 2172-2181, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289625
19.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet
; 94(5): 677-94, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768552
20.
Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency).
J Am Acad Child Adolesc Psychiatry
; 63(6): 571-573, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38460745