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Fresard, Laure
145
results:
Search for persons
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Online (145)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (123)
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english (125)
french (7)
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1
Scalable approaches for generating, validating and incorpor..:
Padigepati, Samskruthi Reddy
;
Stafford, David A.
;
Tan, Christopher A.
...
Human Genetics. 143 (2024) 8 - p. 995-1004 , 2024
Link:
https://doi.org/10.1007/..
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2
Loss of function of FAM177A1, a Golgi complex localized pro..:
Kohler, Jennefer N.
;
Legro, Nicole R.
;
Baldridge, Dustin
...
Genetics in Medicine. 26 (2024) 9 - p. 101166 , 2024
Link:
https://doi.org/10.1016/..
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3
THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS ..:
Johnson, Britt
;
Facio, Flavia
;
Morales, Ana
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107433 , 2023
Link:
https://doi.org/10.1016/..
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4
The impact of machine learning models in reducing variants ..:
Johnson, Britt
;
Morales, Ana
;
Facio, Flavia
...
Clinical Immunology. 250 (2023) - p. 109469 , 2023
Link:
https://doi.org/10.1016/..
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5
P490: The impact of machine learning algorithms in reducing..:
Johnson, Britt
;
Morales, Ana
;
Facio, Flavia
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100537 , 2023
Link:
https://doi.org/10.1016/..
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6
Systematically testing human HMBS missense variants to reve..:
van Loggerenberg, Warren
;
Sowlati-Hashjin, Shahin
;
Weile, Jochen
...
The American Journal of Human Genetics. 110 (2023) 10 - p. 1769-1786 , 2023
Link:
https://doi.org/10.1016/..
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7
A Systematic Method for Detecting Abnormal mRNA Splicing an..:
Kamps-Hughes, Nick
;
Carlton, Victoria E.H.
;
Fresard, Laure
...
The Journal of Molecular Diagnostics. 25 (2023) 3 - p. 156-167 , 2023
Link:
https://doi.org/10.1016/..
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8
eP382: Providing more answers for patients with supplementa..:
Nykamp, Keith
;
Kamps-Hughes, Nick
;
Vincent, John
...
Genetics in Medicine. 24 (2022) 3 - p. S240-S241 , 2022
Link:
https://doi.org/10.1016/..
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9
Elevated CD47 is a hallmark of dysfunctional aged muscle st..:
Porpiglia, Ermelinda
;
Mai, Thach
;
Kraft, Peggy
...
Cell Stem Cell. 29 (2022) 12 - p. 1653-1668.e8 , 2022
Link:
https://doi.org/10.1016/..
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10
14. Providing more answers for patients with supplemental R..:
Fresard, Laure
;
Nykamp, Keith
;
Kamp-Hughes, Nick
...
Cancer Genetics. 268-269 (2022) - p. 5 , 2022
Link:
https://doi.org/10.1016/..
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11
Identification of rare and common regulatory variants in pl..:
Bonder, Marc Jan
;
Smail, Craig
;
Gloudemans, Michael J.
...
Nature Genetics. 53 (2021) 3 - p. 313-321 , 2021
Link:
https://doi.org/10.1038/..
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12
Lymphoid blast transformation in an MPN with BCR-JAK2 treat..:
Chen, Justin Anthony
;
Hou, Yanli
;
Roskin, Krishna M.
...
Blood Advances. 5 (2021) 17 - p. 3492-3496 , 2021
Link:
https://doi.org/10.1182/..
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13
Detection of aberrant gene expression events in RNA sequenc..:
Yépez, Vicente A.
;
Mertes, Christian
;
Müller, Michaela F.
...
Nature Protocols. 16 (2021) 2 - p. 1276-1296 , 2021
Link:
https://doi.org/10.1038/..
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14
Functional and structural analysis of cytokine-selective IL..:
Chen, Yin-Huai
;
Zastrow, Diane B.
;
Metcalfe, Riley D.
...
Journal of Allergy and Clinical Immunology. 148 (2021) 2 - p. 585-598 , 2021
Link:
https://doi.org/10.1016/..
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15
Single-cell epigenomic analyses implicate candidate causal ..:
Corces, M. Ryan
;
Shcherbina, Anna
;
Kundu, Soumya
...
Nature Genetics. 52 (2020) 11 - p. 1158-1168 , 2020
Link:
https://doi.org/10.1038/..
1-15