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Deak, Kristen L.
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1

The challenges and opportunities of offering and integratin..:

Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E....
Genetics in Medicine Open.  , 2024
Link: https://doi.org/10.1016/..
 
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2

The severity of MUSK pathogenic variants is predicted by th..:

Cocanougher, Benjamin T. ; Liu, Samuel W. ; Francescatto, Ludmila...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100288 , 2024
Link: https://doi.org/10.1016/..
 
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3

P748: Duplication of 12q24.11-q24.31 in a patient with Noon..:

Francescatto, Ludmila ; Cocanougher, Benjamin ; Deak, Kristen...
Genetics in Medicine Open.  2 (2024)  - p. 101652 , 2024
Link: https://doi.org/10.1016/..
 
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4

P723: Identification of remarkable Y chromosome structural ..:

Miller, Eric ; Rehder, Catherine ; Rentas, Stefan..
Genetics in Medicine Open.  2 (2024)  - p. 101627 , 2024
Link: https://doi.org/10.1016/..
 
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5

Novel association of Dandy–Walker malformation with CAPN15 ..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
American Journal of Medical Genetics Part A.  191 (2023)  11 - p. 2757-2767 , 2023
Link: https://doi.org/10.1002/..
 
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6

Chronic Lymphocytic Leukemia With Two B-Cell Populations of..:

Zhao, Yue ; Siddiqi, Imran ; Wildes, Tyler J...
American Journal of Clinical Pathology.  159 (2023)  4 - p. 337-351 , 2023
Link: https://doi.org/10.1093/..
 
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7

A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW..:

Hijazi, Ghada ; Paschall, Anna ; Young, Sarah P....
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 275-276 , 2022
Link: https://doi.org/10.1016/..
 
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8

Automated next-generation profiling of genomic alterations ..:

Keefer, Laurel A. ; White, James R. ; Wood, Derrick E....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

36. Clinical utility of copy number alteration analysis in ..:

Barron, Cynthia Reyes ; Alomari, Ahmed ; Aypar, Umut...
Cancer Genetics.  268-269 (2022)  - p. 12 , 2022
Link: https://doi.org/10.1016/..
 
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10

A retrospective longitudinal study and comprehensive review..:

Hijazi, Ghada ; Paschall, Anna ; Young, Sarah P....
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100821 , 2021
Link: https://doi.org/10.1016/..
 
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11

Detection of a mosaic CDKL5 deletion and inversion by optic..:

Cope, Heidi ; Barseghyan, Hayk ; Bhattacharya, Surajit...
Molecular Genetics & Genomic Medicine.  9 (2021)  7 - p. , 2021
Link: https://doi.org/10.1002/..
 
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12

Next-Generation Sequencing Concordance Analysis of Comprehe..:

Deak, Kristen L. ; Jackson, Jennifer B. ; Valkenburg, Kenneth C....
The Journal of Molecular Diagnostics.  23 (2021)  10 - p. 1324-1333 , 2021
Link: https://doi.org/10.1016/..
 
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13

Alternative transcripts in variant interpretation: the pote..:

Schoch, Kelly ; Tan, Queenie K.-G. ; Stong, Nicholas...
Genetics in Medicine.  22 (2020)  7 - p. 1269-1275 , 2020
Link: https://doi.org/10.1038/..
 
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14

Diagnostic testing for uniparental disomy: a points to cons..:

del Gaudio, Daniela ; Shinawi, Marwan ; Astbury, Caroline...
Genetics in Medicine.  22 (2020)  7 - p. 1133-1141 , 2020
Link: https://doi.org/10.1038/..
 
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15

Acute myeloid leukemia arising from polycythemia vera under..:

Zhao, Yue ; Sotolongo, Gina ; Deak, Kristen.
Hematological Oncology.  39 (2020)  2 - p. 254-257 , 2020
Link: https://doi.org/10.1002/..
 
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