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Adrià López Fernández
Adrià López Fernández
Genetic Counselor
在 vhio.net 的电子邮件经过验证
标题
引用次数
引用次数
年份
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ...
Human mutation 40 (9), 1557-1578, 2019
1432019
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology
D Tamborero, R Dienstmann, MH Rachid, J Boekel, A Lopez-Fernandez, ...
Nature cancer 3 (2), 251-261, 2022
992022
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
S Bonache, I Esteban, A Moles-Fernández, A Tenés, L Duran-Lozano, ...
Journal of cancer research and clinical oncology 144, 2495-2513, 2018
752018
Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations?
A Moles-Fernández, L Duran-Lozano, G Montalban, S Bonache, ...
Frontiers in genetics 9, 366, 2018
632018
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, ...
Cancer research 80 (3), 624-638, 2020
562020
Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma
B Calsina, E Piñeiro-Yáñez, ÁM Martínez-Montes, E Caleiras, ...
Nature communications 14 (1), 1122, 2023
452023
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels
L Feliubadaló, A López‐Fernández, M Pineda, O Díez, J Del Valle, ...
International Journal of Cancer 145 (10), 2682-2691, 2019
442019
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
J Coignard, M Lush, J Beesley, TA O’mara, J Dennis, JP Tyrer, DR Barnes, ...
Nature communications 12 (1), 1078, 2021
422021
Quality of colonoscopy is associated with adenoma detection and postcolonoscopy colorectal cancer prevention in Lynch syndrome
A Sánchez, VH Roos, M Navarro, M Pineda, B Caballol, L Moreno, ...
Clinical Gastroenterology and Hepatology 20 (3), 611-621. e9, 2022
402022
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast …
G Montalban, S Bonache, A Moles-Fernández, A Gisbert-Beamud, ...
Journal of medical genetics 56 (2), 63-74, 2019
382019
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
DR Barnes, V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang, J Adlard, ...
JNCI: Journal of the National Cancer Institute 114 (1), 109-122, 2022
362022
Clinical and pathological characterization of Lynch-like syndrome
MD Picó, A Castillejo, Ó Murcia, M Giner-Calabuig, M Alustiza, A Sánchez, ...
Clinical Gastroenterology and Hepatology 18 (2), 368-374. e1, 2020
312020
Hereditary leiomyomatosis and renal cell cancer syndrome in Spain: Clinical and genetic characterization
AB Sánchez-Heras, A Castillejo, JD García-Díaz, M Robledo, A Teulé, ...
Cancers 12 (11), 3277, 2020
172020
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
G Montalban, E Fraile‐Bethencourt, I López‐Perolio, P Pérez‐Segura, ...
Human mutation 39 (9), 1155-1160, 2018
162018
Risk of cancer in family members of patients with lynch-like syndrome
MD Picó, AB Sánchez-Heras, A Castillejo, M Giner-Calabuig, M Alustiza, ...
Cancers 12 (8), 2225, 2020
112020
A narrative overview of the patients’ outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling
I Esteban, A Lopez-Fernandez, J Balmana
European Journal of Medical Genetics 62 (5), 342-349, 2019
92019
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
L Duran-Lozano, G Montalban, S Bonache, A Moles-Fernández, A Tenés, ...
Breast Cancer Research and Treatment 174, 543-550, 2019
82019
Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma
S Mellid, E Gil, R Letón, E Caleiras, E Honrado, S Richter, N Palacios, ...
Frontiers in Endocrinology 13, 1070074, 2023
72023
Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic
A López-Fernández, G Villacampa, E Grau, M Salinas, E Darder, ...
Genetics in Medicine 23 (8), 1450-1457, 2021
72021
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
E Carrasco, A López-Fernández, M Codina-Sola, I Valenzuela, ...
Journal of Medical Genetics 60 (7), 685-691, 2023
62023
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