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Fresard, Laure
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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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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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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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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/..
 
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