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  1. Valenzuela‐Palomo, Alberto; Bueno‐Martínez, Elena; Sanoguera‐Miralles, Lara; Lorca, Víctor; Fraile‐Bethencourt, Eugenia; Esteban‐Sánchez, Ada; Gómez‐Barrero, Susana; Carvalho, Sara; Allen, Jamie; García‐Álvarez, Alicia; Pérez‐Segura, Pedro; Dorling, Leila; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike PG; de la Hoya, Miguel; Velasco, Eladio A

    Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants

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    Wiley, 2022

    Published in: The Journal of Pathology, 256 (2022) 3, Seite 321-334

  3. Fortuno, Cristina; Mester, Jessica; Pesaran, Tina; Weitzel, Jeffrey N.; Dolinsky, Jill; Yussuf, Amal; McGoldrick, Kelly; Garber, Judy E.; Savage, Sharon A.; Khincha, Payal P.; Gareth Evans, D.; Achatz, Maria Isabel; Nichols, Kim E.; Maxwell, Kara N.; Schiffman, Joshua D.; Sandoval, Renata; James, Paul A.; Spurdle, Amanda B.

    Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

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    Hindawi Limited, 2020

    Published in: Human Mutation, 41 (2020) 9, Seite 1555-1562

  4. Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Luppi, Elena; Fortuno, Cristina; Parsons, Michael T; Spurdle, Amanda B; Turchetti, Daniela

    Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified forBRCA1/2

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    BMJ, 2023

    Published in: Journal of Medical Genetics (2023), Seite jmg-2023-109694

  5. Cornelis, Stéphanie S.; Bauwens, Miriam; Haer-Wigman, Lonneke; De Bruyne, Marieke; Pantrangi, Madhulatha; De Baere, Elfride; Hufnagel, Robert B.; Dhaenens, Claire-Marie; Cremers, Frans P. M.

    Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

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    Hindawi Limited, 2023

    Published in: Human Mutation, 2023 (2023), Seite 1-12

  6. Munté, Elisabet; Feliubadaló, Lidia; Pineda, Marta; Tornero, Eva; Gonzalez, Maribel; Moreno-Cabrera, José Marcos; Roca, Carla; Bales Rubio, Joan; Arnaldo, Laura; Capellá, Gabriel; Mosquera, Jose Luis; Lázaro, Conxi

    vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

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    Oxford University Press (OUP), 2023

    Published in: Bioinformatics, 39 (2023) 3

  7. Hu, Chunling; Susswein, Lisa R.; Roberts, Maegan E.; Yang, Hana; Marshall, Megan L.; Hiraki, Susan; Berkofsky-Fessler, Windy; Gupta, Sounak; Shen, Wei; Dunn, Carolyn A.; Huang, Huaizhi; Na, Jie; Domchek, Susan M.; Yadav, Siddhartha; Monteiro, Alvaro N.A.; Polley, Eric C.; Hart, Steven N.; Hruska, Kathleen S.; Couch, Fergus J.

    Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

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    American Association for Cancer Research (AACR), 2022

    Published in: Clinical Cancer Research, 28 (2022) 17, Seite 3742-3751

  8. Fortuno, Cristina; Pesaran, Tina; Dolinsky, Jill; Yussuf, Amal; McGoldrick, Kelly; Goldgar, David; James, Paul A.; Spurdle, Amanda B.

    Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53

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    Hindawi Limited, 2020

    Published in: Human Mutation, 41 (2020) 3, Seite 537-542

  9. Kelly, Melissa A.; Caleshu, Colleen; Morales, Ana; Buchan, Jillian; Wolf, Zena; Harrison, Steven M.; Cook, Stuart; Dillon, Mitchell W.; Garcia, John; Haverfield, Eden; Jongbloed, Jan D.H.; Macaya, Daniela; Manrai, Arjun; Orland, Kate; Richard, Gabriele; Spoonamore, Katherine; Thomas, Matthew; Thomson, Kate; Vincent, Lisa M.; Walsh, Roddy; Watkins, Hugh; Whiffin, Nicola; Ingles, Jodie; van Tintelen, J. Peter; [...]

    Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

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    Elsevier BV, 2018

    Published in: Genetics in Medicine, 20 (2018) 3, Seite 351-359

  10. Lugeiro, Palloma C; Urtremari, Betsaida; Santana, Lucas S; Quedas, Elisangela P S; Lourenco, Delmar Muniz

    Comparative Analysis of Different International Criteria (ACMG-AMP vs. TENGEN) Applied to Classification of Missense Germline Allelic Variants in Patients With Multiple Endocrine Neoplasia Type 1 or Suspected to this Syndrome

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    The Endocrine Society, 2021

    Published in: Journal of the Endocrine Society, 5 (2021) Supplement_1, Seite A1014-A1014