Detalhe da pesquisa
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
2.
Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome.
J Hum Genet
; 68(5): 347-353, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36720993
3.
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Am J Hum Genet
; 104(6): 1116-1126, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104771
4.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
5.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
6.
Patient-specific genetic factors predict treatment failure in sofosbuvir-treated patients with chronic hepatitis C.
Liver Int
; 42(4): 796-808, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107877
7.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213677
8.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet
; 103(5): 808-816, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388404
9.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668673
10.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27276562
11.
CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines.
Breast Cancer Res Treat
; 173(3): 521-532, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411242
12.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med
; 21(7): 1621-1628, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30542205
13.
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
Hum Mutat
; 39(7): 947-953, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691939
14.
The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first-episode schizophrenia patients.
Pharmacogenet Genomics
; 26(5): 235-42, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928376
15.
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
Mol Genet Metab
; 118(1): 21-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26971250
16.
Genome-Wide Association Studies of Drug-Induced Liver Injury Make Progress Beyond the HLA Region.
Gastroenterology
; 157(4): 1167-1168, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348928
17.
Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub-Saharan African Populations.
Clin Pharmacol Ther
; 115(3): 576-594, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049200
18.
Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.
Biomolecules
; 14(5)2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38785976
19.
Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment.
Pharmacogenet Genomics
; 23(12): 666-74, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24141736
20.
Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study.
BMC Med Genet
; 14: 20, 2013 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23356658