Detalhe da pesquisa
1.
Association of rare, recurrent nonsynonymous variants in the germline of prostate cancer patients of African ancestry.
Prostate
; 83(5): 454-461, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36567534
2.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
3.
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A
; 191(9): 2376-2391, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293956
4.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet
; 104(1): 94-111, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609410
5.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
6.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat
; 41(3): 655-667, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705726
7.
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Hum Genomics
; 11(1): 16, 2017 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724397
8.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
9.
Does Type 2 Diabetes Genetic Testing and Counseling Reduce Modifiable Risk Factors? A Randomized Controlled Trial of Veterans.
J Gen Intern Med
; 30(11): 1591-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25876740
10.
Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
JCO Precis Oncol
; 6: e2200460, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446039
11.
Implementing a pragmatic clinical trial to tailor opioids for acute pain on behalf of the IGNITE ADOPT PGx investigators.
Clin Transl Sci
; 15(10): 2479-2492, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899435
12.
A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.
Biomed Rep
; 15(6): 103, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34760276
13.
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Nat Genet
; 52(11): 1145-1150, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046855
14.
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.
J Particip Med
; 10(1): e2, 2018 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33052113
15.
Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial.
Trials
; 13: 121, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22852560