Publications:

Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.

Molecular Medicine (Cambridge, Mass.)

Santos-Rebouças, Cíntia Barros CB; Piergiorge, Rafael Mina RM; Dos Santos Ferreira, Cristina C; Seixas Zeitel, Raquel de R; Gerber, Alexandra Lehmkuhl AL; Rodrigues, Marta Cristine Felix MCF; Guimarães, Ana Paula de Campos APC; Silva, Rodrigo Moulin RM; Fonseca, Adriana Rodrigues AR; Souza, Rangel Celso RC; de Souza, Ana Tereza Antunes Monteiro ATAM; Rossi, Átila Duque ÁD; Porto, Luís Cristóvão de Moraes Sobrino LCMS; Cardoso, Cynthia Chester CC; de Vasconcelos, Ana Tereza Ribeiro ATR

Publication Date: 2022-12-12

Variant appearance in text: ABCA4: Arg226Leu; rs144310835

PubMed Link: 36510129

Variant Present in the following documents:

• Main text
• 10020_2022_Article_583.pdf

View BVdb publication page

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: ABCA4: 677G>T; rs144310835

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: ABCA4: R226L; rs144310835

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Genetic Testing And Molecular Biomarkers

Ramkumar, Hema L HL; Gudiseva, Harini V HV; Kishaba, Kameron T KT; Suk, John J JJ; Verma, Rohan R; Tadimeti, Keerti K; Thorson, John A JA; Ayyagari, Radha R

Publication Date: 2017-02

Variant appearance in text: ABCA4: 677G>T; Arg226Leu; rs144310835

PubMed Link: 28005406

Variant Present in the following documents:

• Main text

View BVdb publication page