Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Genes & Diseases
Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: CDH1: 531+10G>C; rs33963999
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.
International Journal Of Molecular Sciences
Norero, Enrique E; Alarcon, M Alejandra MA; Hakkaart, Christopher C; de Mayo, Tomas T; Mellado, Cecilia C; Garrido, Marcelo M; Aguayo, Gloria G; Lagos, Marcela M; Torres, Javiera J; Calvo, Alfonso A; Guilford, Parry P; Corvalan, Alejandro H AH
Publication Date: 2019-10-09
Variant appearance in text: CDH1: 531+10G>C; rs33963999
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.
Bmc Cancer
Bustos-Carpinteyro, Andrea Rebeca AR; Oliveira, Carla C; Sousa, Abel A; Oliveira, Patricia P; Pinheiro, Hugo H; Carvalho, Joana J; Magaña-Torres, María Teresa MT; Flores-Miramontes, María Guadalupe MG; Aguilar-Lemarroy, Adriana A; Jave-Suárez, Luis Felipe LF; Peregrina-Sandoval, Jorge J; Cruz-Ramos, José Alfonso JA; Sánchez-López, Josefina Yoaly JY
Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.
International Journal Of Molecular Sciences
Caggiari, Laura L; Miolo, Gianmaria G; Buonadonna, Angela A; Basile, Debora D; Santeufemia, Davide A DA; Cossu, Antonio A; Palmieri, Giuseppe G; De Zorzi, Mariangela M; Fornasarig, Mara M; Alessandrini, Lara L; Canzonieri, Vincenzo V; Lo Re, Giovanni G; Puglisi, Fabio F; Steffan, Agostino A; Cannizzaro, Renato R; De Re, Valli V
Publication Date: 2017-12-23
Variant appearance in text: CDH1: 531+10G>C; rs33963999
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP