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1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37167966
2.
Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
J Genet Couns
; 32(3): 598-606, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36478495
3.
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.
Article
in English
| MEDLINE | ID: mdl-34404389
4.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33144682
5.
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.
BMC Med Genet
; 21(1): 161, 2020 08 17.
Article
in English
| MEDLINE | ID: mdl-32807118
6.
Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer.
Hered Cancer Clin Pract
; 18: 17, 2020.
Article
in English
| MEDLINE | ID: mdl-32793315
7.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36745126
8.
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.
Article
in English
| MEDLINE | ID: mdl-34732190
9.
An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant.
Hered Cancer Clin Pract
; 18: 14, 2020.
Article
in English
| MEDLINE | ID: mdl-32754288
10.
Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record.
J Prim Care Community Health
; 13: 21501319211069756, 2022.
Article
in English
| MEDLINE | ID: mdl-35068232
11.
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Mol Genet Genomic Med
; 10(7): e1966, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35570467
12.
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.
JAMA Oncol
; 7(2): 230-237, 2021 Feb 01.
Article
in English
| MEDLINE | ID: mdl-33126242
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