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Kesari, Akanchha
64  results:
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1

P412: A heterozygous 287 kb deletion of the X chromosome in..:

Bazalar-Montoya, Jeny ; Rodriguez, Richard ; Chávez-Pasco, Giulliana...
Genetics in Medicine Open.  2 (2024)  - p. 101306 , 2024
Link: https://doi.org/10.1016/..
 
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2

De novo variants in GABRA4 are associated with a neurologic..:

Sajan, Samin A. ; Gradisch, Ralph ; Vogel, Florian D....
European Journal of Human Genetics.  32 (2024)  8 - p. 912-919 , 2024
Link: https://doi.org/10.1038/..
 
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A framework for the evaluation and reporting of incidental ..:

Brown, Carolyn M. ; Amendola, Laura M. ; Chandrasekhar, Anjana...
European Journal of Human Genetics.  32 (2024)  6 - p. 665-672 , 2024
Link: https://doi.org/10.1038/..
 
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4

P636: Lp(a) genetic risk screening using genome sequencing:

Strom, Samuel ; Amendola, Laura ; Chawla, Aditi...
Genetics in Medicine Open.  2 (2024)  - p. 101542 , 2024
Link: https://doi.org/10.1016/..
 
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5

The smallest likely pathogenic duplication of a SOX9 enhanc..:

Sajan, Samin A. ; Brown, Carolyn M. ; Davis‐Keppen, Laura...
American Journal of Medical Genetics Part A.  191 (2023)  12 - p. 2831-2836 , 2023
Link: https://doi.org/10.1002/..
 
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P507: Implementation of automated pharmacogenomics reportin..:

Malhotra, Alka ; Hejja, Rueben ; Avecilla, James...
Genetics in Medicine Open.  1 (2023)  1 - p. 100554 , 2023
Link: https://doi.org/10.1016/..
 
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7

P572: Detecting short tandem repeat expansions: Three-year ..:

Thomas, Brittany ; Kesari, Akanchha ; Lumaka, Aime...
Genetics in Medicine Open.  1 (2023)  1 - p. 100619 , 2023
Link: https://doi.org/10.1016/..
 
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8

Reactive gene curation to support interpretation and report..:

Clause, Amanda R. ; Taylor, Julie P. ; Rajkumar, Revathi...
Cell Genomics.  3 (2023)  2 - p. 100258 , 2023
Link: https://doi.org/10.1016/..
 
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9

P471: Quad whole genome sequencing detects reciprocal copy ..:

Golden-Grant, Katie ; Buchanan, Amanda ; Coffey, Alison...
Genetics in Medicine Open.  1 (2023)  1 - p. 100518 , 2023
Link: https://doi.org/10.1016/..
 
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10

Genome sequencing detects a balanced pericentric inversion ..:

Chandrasekhar, Anjana ; Mroczkowski, Henry J. ; Urraca, Nora...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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P420: Development of a comprehensive cardiovascular disease..:

Amendola, Laura ; Coffey, Alison ; Strom, Samuel...
Genetics in Medicine Open.  1 (2023)  1 - p. 100467 , 2023
Link: https://doi.org/10.1016/..
 
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12

eP329: Genome sequencing uncovers molecular cause in a case..:

Chandrasekhar, Anjana ; Schlachetzki, Zinayida ; Coffey, Alison...
Genetics in Medicine.  24 (2022)  3 - p. S206 , 2022
Link: https://doi.org/10.1016/..
 
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13

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3516-3524 , 2022
Link: https://doi.org/10.1002/..
 
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14

Genetic basis of oculopharyngeal muscular dystrophy: detect..:

Nallamilli, Babi ; McCarty, Andrew ; Kesari, Akanchha...
Molecular Genetics and Metabolism.  132 (2021)  - p. S277 , 2021
Link: https://doi.org/10.1016/..
 
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15

Global approach to prenatal testing:

Kesari, Akanchha ; Sureshkumar, Shruti ; Rose, Rajiv...
Molecular Genetics and Metabolism.  132 (2021)  - p. S319 , 2021
Link: https://doi.org/10.1016/..
 
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