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/vufind/Search/Results?lookfor=%22Williams%2C+Marc+S%22&type=Person&sort=year
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PubPharm (385)
1
A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes
enthalten in:
bioRxiv.org
| 2024
von
Zeng, C.
|
Bastarache, L.
|
Tao, R.
| +30
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2
Penetrance of breast cancer genes from the eMERGE III Network
enthalten in:
bioRxiv.org
| 2024
von
Fan, X.
|
Wynn, J.
|
Shang, N.
| +26
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3
Genetically guided precision medicine clinical decision support tools : a systematic review
enthalten in:
Journal of the American Medical Informatics Association : JAMIA
| 2024
von
Johnson, D.
|
Del Fiol, G.
|
Kawamoto, K.
| +5
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4
Genomics in nephrology : identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach
enthalten in:
Journal of the American Medical Informatics Association : JAMIA
| 2024
von
Romagnoli, K.
|
Salvati, Z.
|
Johnson, D.
| +3
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5
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Friedman, J.
|
Bombard, Y.
|
Carleton, B.
| +10
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6
Enabling the clinical application of artificial intelligence in genomics : a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup
enthalten in:
Journal of the American Medical Informatics Association : JAMIA
| 2024
von
Walton, N.
|
Nagarajan, R.
|
Wang, C.
| +16
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7
Using implementation science to develop a familial hypercholesterolemia screening program in primary care : The CARE-FH study
enthalten in:
Journal of clinical lipidology
| 2024
von
Jones, L.
|
Romagnoli, K.
|
Schubert, T.
| +8
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8
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program
enthalten in:
Anesthesiology
| 2024
von
Yu, K.
|
Betts, M.
|
Urban, G.
| +11
ErratumIn: Anesthesiology. 2024 Feb 20;:. - PMID 38376144
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9
Genomic medicine year in review : 2023
enthalten in:
American journal of human genetics
| 2023
von
Manolio, T.
|
Narula, J.
|
Bult, C.
| +11
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10
Low adenoma burden in unselected patients with a pathogenic APC variant
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Schwiter, R.
|
Rocha, H.
|
Johns, A.
| +5
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Genetics in medicine : official journal of the ...
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American journal of human genetics
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American journal of medical genetics / C
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American journal of medical genetics. Part A
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bioRxiv.org
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American journal of medical genetics. Part C, S...
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Frontiers in genetics
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American journal of medical genetics
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genomics
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electronic health records
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genetics
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genomic medicine
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2020-
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