A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity.
Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
da Fonseca, Ana Carolina Proença ACP; Abreu, Gabriella de Medeiros GM; Palhinha, Lohanna L; Zembrzuski, Verônica Marques VM; Campos Junior, Mario M; Carneiro, João Regis Ivar JRI; Nogueira Neto, José Firmino JF; Magno, Fernanda Cristina C Mattos FCCM; Rosado, Eliane Lopes EL; Maya-Monteiro, Clarissa Menezes CM; de Cabello, Giselda Maria Kalil GMK; Cabello, Pedro Hernán PH; Bozza, Patricia Torres PT
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Relevance of polymorphisms in MC4R and BDNF in short normal stature.
Bmc Pediatrics
Herrfurth, Nikolas N; Volckmar, Anna-Lena AL; Peters, Triinu T; Kleinau, Gunnar G; Müller, Anne A; Cetindag, Cigdem C; Schonnop, Laura L; Föcker, Manuel M; Dempfle, Astrid A; Wudy, Stefan A SA; Grant, Struan F A SFA; Reinehr, Thomas T; Cousminer, Diana L DL; Hebebrand, Johannes J; Biebermann, Heike H; Hinney, Anke A
Publication Date: 2018-08-22
Variant appearance in text: BDNF: Thr2Ile; rs8192466
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: BDNF: 5C>T; T2I; rs8192466