Detalhe da pesquisa
1.
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Proc Natl Acad Sci U S A
; 118(52)2021 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930847
2.
Cannabis cravings predict cigarette use in schizophrenia: a secondary analysis from two cannabis abstinence studies.
Am J Drug Alcohol Abuse
; 50(1): 95-105, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214479
3.
Does tobacco dependence worsen cannabis withdrawal in people with and without schizophrenia-spectrum disorders?
Am J Addict
; 32(4): 367-375, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36815595
4.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Am J Hum Genet
; 105(5): 1023-1029, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630788
5.
Common and gender-specific associations with cocaine use on gray matter volume: Data from the ENIGMA addiction working group.
Hum Brain Mapp
; 43(1): 543-554, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32857473
6.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
7.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
8.
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Am J Med Genet A
; 188(10): 3110-3117, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943032
9.
Effects of 28 days of cannabis abstinence on cognition in major depressive disorder: A pilot study.
Am J Addict
; 31(5): 454-462, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690891
10.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
11.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Clin Genet
; 100(2): 227-233, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963760
12.
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Am J Med Genet A
; 185(5): 1589-1597, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682303
13.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
14.
A systematic review and meta-analysis of sex differences in cannabis use disorder amongst people with comorbid mental illness.
Am J Drug Alcohol Abuse
; 47(5): 535-547, 2021 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34280058
15.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
16.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
17.
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Am J Med Genet A
; 179(10): 2144-2151, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31287223
18.
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.
Am J Med Genet A
; 176(12): 2907-2910, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346093
19.
Does cannabis use moderate smoking cessation outcomes in treatment-seeking tobacco smokers? Analysis from a large multi-center trial.
Am J Addict
; 25(4): 291-6, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27187893
20.
A review of co-morbid tobacco and cannabis use disorders: possible mechanisms to explain high rates of co-use.
Am J Addict
; 24(2): 105-116, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25662704