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Torene, Rebecca
29  results:
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1

P248: A genotype-first approach to identifying treatable ge..:

Murphy, Karyn Meltz ; Torene, Rebecca ; Kelly, Melissa..
Genetics in Medicine Open.  2 (2024)  - p. 101144 , 2024
Link: https://doi.org/10.1016/..
 
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2

Monoallelic MUTYH pathogenic variants ascertained via multi..:

Thompson, Amanda Bartenbaker ; Sutcliffe, Erin G. ; Arvai, Kevin...
Familial Cancer.  21 (2022)  4 - p. 415-422 , 2022
Link: https://doi.org/10.1007/..
 
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3

Evaluation of 18,911 Individuals with Autism Reveals that E..:

Lindy, Amanda ; Torene, Rebecca ; Retterer, Kyle.
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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4

Uniparental disomy in a population of 32,067 clinical exome..:

Scuffins, Julie ; Keller-Ramey, Jennifer ; Dyer, Lindsay...
Genetics in Medicine.  23 (2021)  6 - p. 1101-1107 , 2021
Link: https://doi.org/10.1038/..
 
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5

36. Classifying benign multigenic CNVs: Exploring available..:

Meck, Jeanne ; Torene, Rebecca ; Sack, Laura.
Cancer Genetics.  252-253 (2021)  - p. S12-S13 , 2021
Link: https://doi.org/10.1016/..
 
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6

Chimerism involving a RB1 pathogenic variant in monochorion..:

Armitage, Anna M. ; Kundra, Monica A. ; Ghiam, Neda...
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 208-212 , 2020
Link: https://doi.org/10.1002/..
 
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7

Early-onset breast cancer in a woman with a germline mobile..:

Deuitch, Natalie ; Li, Shao-Tzu ; Courtney, Eliza...
Human Genome Variation.  7 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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8

Genetic testing of >1300 patients with cerebral palsy revea..:

Millan, Francisca ; Elloumi, Houda ; Teigen, Claire...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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9

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil...
Acta Neuropathologica.  139 (2019)  3 - p. 415-442 , 2019
Link: https://doi.org/10.1007/..
 
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10

Omalizumab normalizes the gene expression signature of lesi..:

Metz, Martin ; Torene, Rebecca ; Kaiser, Sergio...
Allergy.  74 (2018)  1 - p. 141-151 , 2018
Link: https://doi.org/10.1111/..
 
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11

Systematic analysis of variants escaping nonsense-mediated ..:

Torene, Rebecca I. ; Guillen Sacoto, Maria J. ; Millan, Francisca...
The American Journal of Human Genetics.  111 (2024)  1 - p. 70-81 , 2024
Link: https://doi.org/10.1016/..
 
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12

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens...
Nature.  586 (2020)  7831 - p. 757-762 , 2020
Link: https://doi.org/10.1038/..
 
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13

Mobile element insertion detection in 89,874 clinical exome:

Torene, Rebecca I. ; Galens, Kevin ; Liu, Shuxi...
Genetics in Medicine.  22 (2020)  5 - p. 974-978 , 2020
Link: https://doi.org/10.1038/..
 
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14

Age-adjusted association of homologous recombination genes ..:

Arvai, Kevin J. ; Roberts, Maegan E. ; Torene, Rebecca I....
Hereditary Cancer in Clinical Practice.  17 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

IL-17A inhibition by secukinumab induces early clinical, hi..:

Krueger, James G. ; Wharton Jr., Keith A. ; Schlitt, Thomas...
Journal of Allergy and Clinical Immunology.  144 (2019)  3 - p. 750-763 , 2019
Link: https://doi.org/10.1016/..
 
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