Detalhe da pesquisa
1.
Development of a flipped learning course to deliver and scale molecular variant evaluation education: A quality improvement initiative.
J Genet Couns
; 33(1): 168-178, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197720
2.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 21(1): 410, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353797
3.
An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic.
Genet Med
; 25(3): 100341, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36472615
4.
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
5.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
7.
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.
Clin Immunol
; 207: 55-57, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30282051
8.
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 22(1): 400, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689323
9.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
10.
Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial).
Circulation
; 133(12): 1181-8, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915630
11.
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
12.
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
Am J Med Genet A
; 173(5): 1328-1333, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322501
13.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732190
14.
Response to Commercial Genetic Testing and the Future of the Genetic Counseling Profession.
J Genet Couns
; 27(3): 530-532, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29569053
15.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
16.
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man.
JACC Case Rep
; 3(12): 1447-1452, 2021 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557690
17.
Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting.
Mayo Clin Proc
; 96(6): 1407-1417, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33890576
18.
Genomics Integration Into Nephrology Practice.
Kidney Med
; 3(5): 785-798, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746741
19.
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
Cold Spring Harb Mol Case Stud
; 6(4)2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843428
20.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet
; 28(6): 770-782, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005960