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Hoya, Miguel de la
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1

P690: Integration of protein stability and structural conte..:

Rotenberg, Nitsan ; Ramadane-Morchadi, Lobna ; Varga, Matthew...
Genetics in Medicine Open.  2 (2024)  - p. 101594 , 2024
Link: https://doi.org/10.1016/..
 
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2

A New Set of in Silico Tools to Support the Interpretation ..:

Porras, Luz-Marina ; Padilla, Natàlia ; Moles-Fernández, Alejandro...
The Journal of Molecular Diagnostics.  26 (2024)  1 - p. 17-28 , 2024
Link: https://doi.org/10.1016/..
 
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3

Comprehensive splicing analysis of the alternatively splice..:

Sanoguera‐Miralles, Lara ; Llinares‐Burguet, Inés ; Bueno‐Martínez, Elena...
The Journal of Pathology.  262 (2024)  4 - p. 395-409 , 2024
Link: https://doi.org/10.1002/..
 
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4

P061: ATM and PALB2 variant curation guidelines progress up..:

Holdren, Megan ; Richardson, Marcy ; Ritter, Deborah...
Genetics in Medicine Open.  1 (2023)  1 - p. 100080 , 2023
Link: https://doi.org/10.1016/..
 
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5

SpliceAI-10k calculator for the prediction of pseudoexoniza..:

Canson, Daffodil M ; Davidson, Aimee L ; de la Hoya, Miguel...
Bioinformatics.  39 (2023)  4 - p. , 2023
Link: https://doi.org/10.1093/..
 
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6

Contralateral breast cancer risk in patients with breast ca..:

van Barele, Mark ; Akdeniz, Delal ; Heemskerk-Gerritsen, Bernadette A M...
JNCI: Journal of the National Cancer Institute.  115 (2023)  11 - p. 1318-1328 , 2023
Link: https://doi.org/10.1093/..
 
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7

HOPE (SOLTI-1903) breast cancer study: real-world, patient-..:

Olivera-Salguero, Rubén ; Seguí, Elia ; Cejalvo, Juan Miguel...
Frontiers in Oncology.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

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/..
 
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9

Unexpected Findings in Hereditary Breast and Ovarian Cancer..:

Hidalgo Mayoral, Irene ; Almeida Santiago, Ainhoa ; Sánchez-Zapardiel, Jose Manuel...
Genes.  14 (2023)  2 - p. 502 , 2023
Link: https://doi.org/10.3390/..
 
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10

P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic fr..:

Parsons, Michael ; Anderson, Michael ; Berkofsky-Fessler, Windy...
Genetics in Medicine Open.  1 (2023)  1 - p. 100095 , 2023
Link: https://doi.org/10.1016/..
 
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11

Systematic Minigene-Based Splicing Analysis and Tentative C..:

Sanoguera-Miralles, Lara ; Valenzuela-Palomo, Alberto ; Bueno-Martínez, Elena...
Clinical Chemistry.  70 (2023)  1 - p. 319-338 , 2023
Link: https://doi.org/10.1093/..
 
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12

Risks of breast and ovarian cancer for women harboring path..:

Li, Hongyan ; Engel, Christoph ; de la Hoya, Miguel...
Genetics in Medicine.  24 (2022)  1 - p. 119-129 , 2022
Link: https://doi.org/10.1016/..
 
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13

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene ..:

Valenzuela-Palomo, Alberto ; Sanoguera-Miralles, Lara ; Bueno-Martínez, Elena...
Cancers.  14 (2022)  18 - p. 4541 , 2022
Link: https://doi.org/10.3390/..
 
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14

A Large Case-Control Study Performed in Spanish Population ..:

Marchena-Perea, Erik Michel ; Salazar-Hidalgo, Milton Eduardo ; Gómez-Sanz, Alicia...
Cancers.  14 (2022)  19 - p. 4738 , 2022
Link: https://doi.org/10.3390/..
 
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15

Minigene‐based splicing analysis andACMG/AMP‐based tentativ..:

Bueno‐Martínez, Elena ; Sanoguera‐Miralles, Lara ; Valenzuela‐Palomo, Alberto...
The Journal of Pathology.  258 (2022)  1 - p. 83-101 , 2022
Link: https://doi.org/10.1002/..
 
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