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Santani, Avni B.
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1

Congenital polyvalvular disease expands the cardiac phenoty..:

Matalon, Dena R. ; Stevenson, David A. ; Bhoj, Elizabeth J....
American Journal of Medical Genetics Part A.  185 (2021)  5 - p. 1486-1493 , 2021
Link: https://doi.org/10.1002/..
 
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2

Rapid and accurate interpretation of clinical exomes using ..:

Wu, Chao ; Devkota, Batsal ; Evans, Perry...
European Journal of Human Genetics.  27 (2019)  4 - p. 612-620 , 2019
Link: https://doi.org/10.1038/..
 
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3

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses:

Baker, Samuel W. ; Murrell, Jill R. ; Nesbitt, Addie I....
The Journal of Molecular Diagnostics.  21 (2019)  1 - p. 38-48 , 2019
Link: https://doi.org/10.1016/..
 
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4

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Fin..:

Ritter, Alyssa L. ; McDougall, Carey ; Skraban, Cara...
American Journal of Medical Genetics Part A.  176 (2018)  9 - p. 1890-1896 , 2018
Link: https://doi.org/10.1002/..
 
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5

Phenotypic predictors and final diagnoses in patients refer..:

Bhoj, Elizabeth J. ; Yu, Zhenming ; Guan, Qiaoning...
Genetics in Medicine.  19 (2017)  6 - p. 715-718 , 2017
Link: https://doi.org/10.1038/..
 
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6

Utility and limitations of exome sequencing as a genetic di..:

Li, Mindy H. ; Abrudan, Jenica L. ; Dulik, Matthew C....
Human Genomics.  9 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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7

Mung Bean Nuclease Treatment Increases Capture Specificity ..:

Yu, Zhenming ; Cao, Kajia ; Tischler, Tanya...
PLoS ONE.  9 (2014)  7 - p. e103491 , 2014
Link: https://doi.org/10.1371/..
 
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8

Mosaic maternal uniparental disomy of chromosome 15 in Prad..:

Izumi, Kosuke ; Santani, Avni B. ; Deardorff, Matthew A....
American Journal of Medical Genetics Part A.  161 (2012)  1 - p. 166-171 , 2012
Link: https://doi.org/10.1002/..
 
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9

A rapid, noninvasive immunoassay for frataxin: Utility in a..:

Deutsch, Eric C. ; Santani, Avni B. ; Perlman, Susan L....
Molecular Genetics and Metabolism.  101 (2010)  2-3 - p. 238-245 , 2010
Link: https://doi.org/10.1016/..
 
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10

Molecular Diagnostic Outcomes from 700 Cases: What Can We L..:

Murrell, Jill R ; Nesbitt, Addie May I ; Baker, Samuel W...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904168/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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11

Congenital polyvalvular disease expands the cardiac phenoty..:

Matalon, Dena R ; Stevenson, David A ; Bhoj, Elizabeth J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8711298/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

Rapid and accurate interpretation of clinical exomes using ..:

Wu, Chao ; Devkota, Batsal ; Evans, Perry...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460638/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

Scaling Resolution of Variant Classification Differences in..:

Harrison, Steven M ; Dolinksy, Jill S ; Chen, Wenjie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188667/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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14

NFIB Haploinsufficiency Is Associated with Intellectual Dis..:

Schanze, Ina ; Bunt, Jens ; Lim, Jonathan W.C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218805/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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15

NFIB Haploinsufficiency Is Associated with Intellectual Dis..:

Schanze, Ina ; Bunt, Jens ; Lim, Jonathan WC...
qt7099p72x.  , 2018
Link: https://escholarship.org..
 
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