Search details
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Article
in English
| MEDLINE | ID: mdl-38815585
2.
Anti-PfGARP activates programmed cell death of parasites and reduces severe malaria.
Nature
; 582(7810): 104-108, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32427965
3.
Relationships Between Schistosoma mansoni Infection Intensity and Nutritional Status and Anemia Among Preschool-aged Children in Uganda.
Clin Infect Dis
; 78(1): 90-93, 2024 01 25.
Article
in English
| MEDLINE | ID: mdl-37585653
4.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Hum Mol Genet
; 31(6): 929-941, 2022 03 21.
Article
in English
| MEDLINE | ID: mdl-34622282
5.
The Impact of Prenatal Alcohol Exposure on Longitudinal Growth, Nutritional Status, and Insulin-Like Growth Factor 1 in Early Childhood in Leyte, the Philippines.
J Pediatr
; 269: 113977, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38401788
6.
Characterization of a patient-derived variant of GPX4 for precision therapy.
Nat Chem Biol
; 18(1): 91-100, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34931062
7.
Early-life matters: The role of fetal adrenal steroids in the relationship between cytokines within the placental circulation and cognitive development among infants in the Philippines.
Brain Behav Immun
; 118: 510-520, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38431237
8.
A cross-sectional pilot household study of Schistosoma mansoni burden and associated morbidities in Lake Albert, Uganda.
Trop Med Int Health
; 29(4): 334-342, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38356464
9.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36477332
10.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Article
in English
| MEDLINE | ID: mdl-38038360
11.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37185208
12.
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Mov Disord
; 38(4): 646-653, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36727539
13.
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
Am J Med Genet A
; 191(5): 1378-1383, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36718996
14.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain
; 145(10): 3383-3390, 2022 10 21.
Article
in English
| MEDLINE | ID: mdl-35737950
15.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35232796
16.
Impaired Intrauterine Growth in the Context of Maternal Hookworm Infection During Gestation.
J Infect Dis
; 225(10): 1856-1860, 2022 05 16.
Article
in English
| MEDLINE | ID: mdl-35091745
17.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35027293
18.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35916866
19.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35384065
20.
Whole-Proteome Differential Screening Identifies Novel Vaccine Candidates for Schistosomiasis japonica.
J Infect Dis
; 223(7): 1265-1274, 2021 04 08.
Article
in English
| MEDLINE | ID: mdl-33606021