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Biesecker, Leslie G
434
results:
Search for persons
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Format
Online (434)
Mediatypes
Articles (Online) (357)
Bookchapter (Online) (3)
OpenAccess-fulltext (74)
Languages
english (406)
german (1)
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1
Quantification of Proteus syndrome-associated lung disease:
Ours, Christopher A.
;
Buser, Anna
;
Hodges, Mia B.
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
2
ClinGen guidance for use of the PP1/BS4 co-segregation and ..:
Biesecker, Leslie G.
;
Byrne, Alicia B.
;
Harrison, Steven M.
...
The American Journal of Human Genetics. 111 (2024) 1 - p. 24-38 , 2024
Link:
https://doi.org/10.1016/..
?
3
Assessment of the evidence yield for the calibrated PP3/BP4..:
Stenton, Sarah L.
;
Pejaver, Vikas
;
Bergquist, Timothy
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
4
Response to Kiel and Kozaric:
Wermers, Zara
;
Yoo, Seeley
;
Radenbaugh, Bailey
...
Genetics in Medicine. 26 (2024) 7 - p. 101162 , 2024
Link:
https://doi.org/10.1016/..
?
5
Workshop report: the clinical application of data from mult..:
Allen, Sophie
;
Garrett, Alice
;
Muffley, Lara
...
European Journal of Human Genetics. 32 (2024) 5 - p. 593-600 , 2024
Link:
https://doi.org/10.1038/..
?
6
Response to Wei et al:
Wermers, Zara
;
Yoo, Seeley
;
Radenbaugh, Bailey
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
7
Comparison of literature mining tools for variant classific..:
Wermers, Zara
;
Yoo, Seeley
;
Radenbaugh, Bailey
...
Genetics in Medicine. 26 (2024) 4 - p. 101083 , 2024
Link:
https://doi.org/10.1016/..
?
8
Comparison of literature mining tools for variant classific..:
Wermers, Zara
;
Yoo, Seeley
;
Radenbaugh, Bailey
...
Genetics in Medicine. 26 (2024) 7 - p. 101157 , 2024
Link:
https://doi.org/10.1016/..
?
9
Clinical and molecular heterogeneity of syndromic hypothala..:
Bönnemann, Carsten G.
;
Krishnamoorthy, Kalpathy S.
;
Johnston, Jennifer J.
...
American Journal of Medical Genetics Part A. , 2023
Link:
https://doi.org/10.1002/..
?
10
Using the ACMG/AMP framework to capture evidence related to..:
Walker, Logan C.
;
Hoya, Miguel de la
;
Wiggins, George A.R.
...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1046-1067 , 2023
Link:
https://doi.org/10.1016/..
?
11
Genome-wide identification of dominant polyadenylation hexa..:
Shiferaw, Henoke K
;
Hong, Celine S
;
Cooper, David N
...
Human Molecular Genetics. 32 (2023) 23 - p. 3211-3224 , 2023
Link:
https://doi.org/10.1093/..
?
12
Genetic Testing and Other Healthcare Use by Black and White..:
Saylor, Katherine W.
;
Klein, William M.P.
;
Calancie, Larissa
...
Public Health Genomics. 26 (2023) 1 - p. 90-102 , 2023
Link:
https://doi.org/10.1159/..
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13
Derived myeloid lineage induced pluripotent stem as a platf..:
Chen, Guibin
;
Calcaterra, Francesca
;
Ma, Yuchi
...
iScience. 26 (2023) 11 - p. 108331 , 2023
Link:
https://doi.org/10.1016/..
?
14
Genotype first: Clinical genomics research through a revers..:
Wilczewski, Caralynn M.
;
Obasohan, Justice
;
Paschall, Justin E.
...
The American Journal of Human Genetics. 110 (2023) 1 - p. 3-12 , 2023
Link:
https://doi.org/10.1016/..
?
15
Orofacial overgrowth with peripheral nerve enlargement and ..:
Koutlas, Ioannis G.
;
Anbinder, Ana-Lia
;
Alshagroud, Rana
...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100062 , 2022
Link:
https://doi.org/10.1016/..
1-15