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Chaudhari, Bimal
77
results:
Search for persons
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Online (77)
Mediatypes
Articles (Online) (37)
Bookchapter (Online) (2)
OpenAccess-fulltext (38)
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?
1
P183: Genome sequencing increases the diagnostic yield in e..:
Ramadesikan, Swetha
;
Colwell, Caitlyn
;
Marhabaie, Mohammad
...
Genetics in Medicine Open. 2 (2024) - p. 101080 , 2024
Link:
https://doi.org/10.1016/..
?
2
P437: Rapid genome sequencing detects complete paternal UPD..:
Hughes, Hannah
;
Chaudhari, Bimal
Genetics in Medicine Open. 2 (2024) - p. 101331 , 2024
Link:
https://doi.org/10.1016/..
?
3
P278: Severe secretory diarrhea investigated by genome sequ..:
Yurkoski, Jacqueline
;
Koboldt, Daniel
;
Mezoff, Ethan
..
Genetics in Medicine Open. 2 (2024) - p. 101174 , 2024
Link:
https://doi.org/10.1016/..
?
4
O03: Exploiting narrow therapeutic windows: Utility of the ..:
Gerald, Dayebgadoh
;
Tortorelli, Silvia
;
White, Amy
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100004 , 2023
Link:
https://doi.org/10.1016/..
?
5
O57: Parent psychosocial experiences with rapid genome sequ..:
Shah, Anamika
;
Chaudhari, Bimal
Genetics in Medicine Open. 1 (2023) 1 - p. 100746 , 2023
Link:
https://doi.org/10.1016/..
?
6
P378: Inter-center variation in the availability and provis..:
Chaudhari, Bimal
;
Brunelli, Luca
;
Callahan, Katharine
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100414 , 2023
Link:
https://doi.org/10.1016/..
?
7
P563: Anonymous is synonymous: Utilizing de-identified gene..:
Stone, Brandon
;
Schuetz, Robert
;
Antoniou, Austin
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100610 , 2023
Link:
https://doi.org/10.1016/..
?
8
eP477: A classifier prioritizing exome and genome sequencin..:
Antoniou, Austin
;
Schuetz, Robert
;
Chaudhari, Bimal
Genetics in Medicine. 24 (2022) 3 - p. S304 , 2022
Link:
https://doi.org/10.1016/..
?
9
eP255: Proposition of a novel RASopathy mediated by variant..:
Stone, Brandon
;
Stottmann, Rolf
;
Ho, Mai-Lan
.
Genetics in Medicine. 24 (2022) 3 - p. S162 , 2022
Link:
https://doi.org/10.1016/..
?
10
eP332: The importance of parental sequencing depth in the s..:
Choi, Samantha
;
White, Peter
;
Chaudhari, Bimal
Genetics in Medicine. 24 (2022) 3 - p. S207-S208 , 2022
Link:
https://doi.org/10.1016/..
?
11
Determinants of turnaround time in a rapid genome sequencin..:
Chaudhari, Bimal
;
Pitts, Jeremy
;
Ravagnani, Spencer
...
Molecular Genetics and Metabolism. 132 (2021) - p. S354-S356 , 2021
Link:
https://doi.org/10.1016/..
?
12
Outcomes of in-house rapid genome sequencing at a Children'..:
Chaudhari, Bimal
;
Cottrell, Catherine
;
Magrini, Vincent
...
Molecular Genetics and Metabolism. 132 (2021) - p. S165-S166 , 2021
Link:
https://doi.org/10.1016/..
?
13
Hypomorphic alleles pose challenges in rare disease genomic..:
Nolan, Daniel K.
;
Chaudhari, Bimal
;
Franklin, Samuel J.
...
Clinical Genetics. 100 (2021) 6 - p. 775-776 , 2021
Link:
https://doi.org/10.1111/..
?
14
Application of constitutional rapid genome sequencing to de..:
Schultz, Matthew
;
Fitch, James
;
Lammi, Grant
...
Molecular Genetics and Metabolism. 132 (2021) - p. S273 , 2021
Link:
https://doi.org/10.1016/..
?
15
Natural language processing of clinical notes reveals a qua..:
Antoniou, Austin
;
Chaudhari, Bimal
Molecular Genetics and Metabolism. 132 (2021) - p. S347-S348 , 2021
Link:
https://doi.org/10.1016/..
1-15