Detalhe da pesquisa
1.
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Blood
; 140(17): 1858-1874, 2022 10 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35789258
2.
SETD1B-associated neurodevelopmental disorder.
J Med Genet
; 58(3): 196-204, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32546566
3.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34213677
4.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Am J Hum Genet
; 101(1): 65-74, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28669405
5.
Renpenning syndrome in a female.
Am J Med Genet A
; 182(3): 498-503, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31840929
6.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med
; 21(7): 1621-1628, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30542205
7.
Cancer genome-sequencing study design.
Nat Rev Genet
; 14(5): 321-32, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23594910
8.
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Genet Med
; 20(9): 1013-1021, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29300375
9.
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
BMC Genomics
; 18(1): 403, 2017 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-28539120
10.
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
Am J Med Genet A
; 173(12): 3172-3181, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28884888
11.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
HGG Adv
; 5(1): 100259, 2024 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38041405
12.
Alternative expression analysis by RNA sequencing.
Nat Methods
; 7(10): 843-7, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20835245
13.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35599849
14.
Molecular genetics of nicotine metabolism.
Handb Exp Pharmacol
; (192): 235-59, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19184652
15.
Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent.
Hum Mutat
; 29(5): 679-88, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18360915
16.
Nicotine metabolism and CYP2A6 activity in a population of black African descent: impact of gender and light smoking.
Drug Alcohol Depend
; 89(1): 24-33, 2007 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17161559
17.
New CYP2A6 gene deletion and conversion variants in a population of Black African descent.
Pharmacogenomics
; 11(2): 189-98, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20136358
18.
Socioeconomic and drug use determinants of smoking status in an urban adult population of Black African descent.
Nicotine Tob Res
; 10(8): 1319-25, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18686179
19.
A novel CYP2A6 allele, CYP2A6*23, impairs enzyme function in vitro and in vivo and decreases smoking in a population of Black-African descent.
Pharmacogenet Genomics
; 18(1): 67-75, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18216723
20.
Genetic variability in CYP2A6 and the pharmacokinetics of nicotine.
Pharmacogenomics
; 8(10): 1385-402, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17979512