Publications:

CNL and aCML should be considered as single entity based on molecular profiles and outcomes.

Blood Advances

Carreño-Tarragona, Gonzalo G; Alvarez-Larran, Alberto A; Harrison, Claire N CN; Martínez-Ávila, José Carlos JC; Hernandez-Boluda, Juan Carlos JC; Ferrer-Marin, Francisca F; Radia, Deepti H DH; Mora Casterá, Elvira E; Francis, Sebastian S; González-Martínez, Teresa T; Goddard, Kathryn K; Perez-Encinas, Manuel M; Narayanan, Srinivasan S; Raya, Jose Maria JM; Singh, Vikram V; Toth, Peter P; Gutiérrez, Xabier X; Amat Martinez, Paula P; McIlwaine, Louisa L; Alobaidi, Magda M; Mayani, Karan K; McGregor, Andrew A; Stuckey, Ruth R; Psaila, Bethan B; Segura, Adrian A; Alvares, Caroline L CL; Davidson, Kerri K; Osorio, Santiago S; Cutting, Robert R; Sweeney, Caroline P CP; Rufian, Laura L; Moreno, Laura L; Cuenca, Isabel I; Smith, Jeffrey J; Morales, María Luz ML; Gil-Manso, Rodrigo R; Koutsavlis, Ioannis I; Wang, Lihui L; Mead, Adam J AJ; Rozman, Maria M; Martínez-López, Joaquin J; Ayala, Rosa R; Cross, Nicholas Cp NC

Publication Date: 2022-11-14

Variant appearance in text: NF1: 2188A>T; N730Y

PubMed Link: 36375042

Variant Present in the following documents:

• BLOODA_ADV-2022-008204-mmc1.pdf

View BVdb publication page

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases

Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,

Publication Date: 2022-02-28

Variant appearance in text: rs758893131

PubMed Link: 35227301

Variant Present in the following documents:

• 13023_2021_2079_MOESM1_ESM.pdf

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs758893131

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NF1: 2188A>T; Asn730Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page