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/vufind/Search/Results?lookfor=%22Mirshahi%2C+Uyenlinh+L%22&type=Person&sort=year
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PubPharm (33)
1
Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis
enthalten in:
Nature communications
| 2024
von
Loginovic, P.
|
Wang, F.
|
Li, J.
| +15
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2
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
enthalten in:
HGG advances
| 2024
von
de Andrade, K.
|
Strande, N.
|
Kim, J.
| +17
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3
The penetrance of age-related monogenic disease depends on ascertainment context
enthalten in:
bioRxiv.org
| 2023
von
Mirshahi, U.
|
Colclough, K.
|
Wright, C.
| +12
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4
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
enthalten in:
JAMA
| 2023
von
Beck, D.
|
Bodian, D.
|
Shah, V.
| +15
CommentIn: Nat Rev Rheumatol. 2023 Apr;19(4):193. - PMID 36792664
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5
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
enthalten in:
American journal of human genetics
| 2022
von
Mirshahi, U.
|
Colclough, K.
|
Wright, C.
| +13
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6
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification
enthalten in:
Kidney international reports
| 2022
von
Mirshahi, U.
|
Bhan, A.
|
Tholen, L.
| +14
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7
Genomic ascertainment for
UBA1
variants and VEXAS syndrome: a population-based study
enthalten in:
bioRxiv.org
| 2022
von
Beck, D.
|
Bodian, D.
|
Shah, V.
| +13
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8
Framework for prioritizing variants of unknown significance from clinical genetic testing in kidney disease – utility of multidisciplinary approach to gather evidence of pathogenicity for Hepatocyte Nuclear Factor-1β (
HNF1B
) p.Arg303His
enthalten in:
bioRxiv.org
| 2022
von
Mirshahi, U.
|
Bhan, A.
|
Tholen, L.
| +12
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9
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype
enthalten in:
JAMA network open
| 2021
von
Mirshahi, U.
|
Kim, J.
|
Best, A.
| +17
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10
Trajectory of exonic variant discovery in a large clinical population : implications for variant curation
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2019
von
Mirshahi, U.
|
Luo, J.
|
Manickam, K.
| +4
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Receptor, Melanocortin, Type 4
3
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3
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3
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3
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3
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2
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2
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2
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variant curation
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1,2-dioctanoylglycerol
1
1069-87-0
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17-Hydroxysteroid Dehydrogenases
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27432CM55Q
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