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Year Number of Results
2003 1
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2016 1
2020 3
2021 4
2022 6
2023 2
2024 1

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18 results

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Page 1
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: sandoval r. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
Call for action: expanding global access to hereditary cancer genetic testing.
Bychkovsky B, Rana HQ, Ademuyiwa F, Plichta J, Anderson K, Nogueira-Rodrigues A, Santa-Maria CA, Coffman LG, Marquez C, Das A, Taghian A, Koeller DR, Sandoval RL, Park BH, Dizon DS. Bychkovsky B, et al. Among authors: sandoval rl. Lancet Oncol. 2022 Sep;23(9):1124-1126. doi: 10.1016/S1470-2045(22)00378-3. Lancet Oncol. 2022. PMID: 36055301 No abstract available.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Among authors: sandoval rl. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.
Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
Barbalho D, Sandoval R, Santos E, Pisani J, Quirino C, Garicochea B, Rossi B, Achatz MI. Barbalho D, et al. Among authors: sandoval r. Front Oncol. 2022 Jan 28;11:743231. doi: 10.3389/fonc.2021.743231. eCollection 2021. Front Oncol. 2022. PMID: 35155181 Free PMC article.
What can we learn from more than 1,000 Brazilian patients at risk of hereditary cancer?
Leite ACR, Suzuki DA, Pereira AAL, Machado NP, Barroso-Sousa R, Correa TS, Moura FC, Morbeck IAP, Gumz BP, Faria LDBB, Fernandes GDS, Sandoval RL. Leite ACR, et al. Among authors: sandoval rl. Front Oncol. 2022 Sep 5;12:963910. doi: 10.3389/fonc.2022.963910. eCollection 2022. Front Oncol. 2022. PMID: 36132150 Free PMC article.
TP53-associated early breast cancer: new observations from a large cohort.
Sandoval RL, Bottosso M, Tianyu L, Polidorio N, Bychkovsky BL, Verret B, Gennari A, Cahill S, Achatz MI, Caron O, Imbert-Bouteille M, Noguès C, Mawell KN, Fortuno C, Spurdle AB, Tayob N, Andre F, Garber JE. Sandoval RL, et al. J Natl Cancer Inst. 2024 Apr 3:djae074. doi: 10.1093/jnci/djae074. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 38569880
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell KN, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium; James PA, Spurdle AB. Fortuno C, et al. Among authors: sandoval r. Hum Mutat. 2020 Sep;41(9):1555-1562. doi: 10.1002/humu.24060. Epub 2020 Jun 12. Hum Mutat. 2020. PMID: 32485079 Free PMC article.
18 results