Detalhe da pesquisa
1.
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.
Blood
; 141(11): 1293-1307, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977101
2.
Temporal course of cognitive and behavioural changes in motor neuron diseases.
J Neurol Neurosurg Psychiatry
; 95(4): 316-324, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827570
3.
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Genome Res
; 29(9): 1555-1565, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439692
4.
Generalization of a genetic risk score for time to first albuminuria in children with sickle cell anaemia: SCCRIP cohort study results.
Br J Haematol
; 194(2): 469-473, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34137022
5.
Regulation of AKT signaling by Id1 controls t(8;21) leukemia initiation and progression.
Blood
; 126(5): 640-50, 2015 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084673
6.
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Nature
; 477(7363): 211-5, 2011 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21857683
7.
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
Am J Hum Genet
; 88(3): 273-82, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21353195
8.
Children with sickle cell anemia and APOL1 genetic variants develop albuminuria early in life.
Haematologica
; 104(9): e385-e387, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890594
9.
Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population.
Fetal Pediatr Pathol
; 33(4): 226-33, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833307
10.
Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease.
Curr Res Transl Med
; 72(2): 103433, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244277
11.
Genomic signatures of a global fitness index in a multi-ethnic cohort of women.
Ann Hum Genet
; 77(2): 147-57, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23289938
12.
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
Hum Genet
; 132(3): 323-36, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23192594
13.
Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.
J Card Fail
; 19(4): 233-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23582089
14.
The net electrostatic potential and hydration of ABCG2 affect substrate transport.
Nat Commun
; 14(1): 5035, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596258
15.
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.
Neurol Genet
; 9(4): e200077, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37346932
16.
Phase II study of alisertib as a single agent for treating recurrent or progressive atypical teratoid/rhabdoid tumor.
Neuro Oncol
; 25(2): 386-397, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652336
17.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Amyotroph Lateral Scler Frontotemporal Degener
; 24(5-6): 420-435, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896705
18.
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.
Proc Natl Acad Sci U S A
; 106(1): 226-31, 2009 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19114657
19.
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Neurol Genet
; 8(1): e654, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047667
20.
Fetal hemoglobin modulates neurocognitive performance in sickle cell anemiaâ°,â°â°.
Curr Res Transl Med
; 70(3): 103335, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303690