Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: WNT16: 788C>T; T263I; rs2707466
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: WNT16: 788C>T; T263I; rs2707466
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: WNT16: T263I; rs2707466
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: WNT16: T263I; rs2707466
Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.
Plos One
Kim, Stuart K SK
Publication Date: 2018
Variant appearance in text: WNT16: T263I; rs2707466
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: WNT16: T263I; rs2707466
Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.
Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Niu, Tianhua T; Liu, Ning N; Yu, Xun X; Zhao, Ming M; Choi, Hyung Jin HJ; Leo, Paul J PJ; Brown, Matthew A MA; Zhang, Lei L; Pei, Yu-Fang YF; Shen, Hui H; He, Hao H; Fu, Xiaoying X; Lu, Shan S; Chen, Xiang-Ding XD; Tan, Li-Jun LJ; Yang, Tie-Lin TL; Guo, Yan Y; Cho, Nam H NH; Shen, Jie J; Guo, Yan-Fang YF; Nicholson, Geoffrey C GC; Prince, Richard L RL; Eisman, John A JA; Jones, Graeme G; Sambrook, Philip N PN; Tian, Qing Q; Zhu, Xue-Zhen XZ; Papasian, Christopher J CJ; Duncan, Emma L EL; Uitterlinden, André G AG; Shin, Chan Soo CS; Xiang, Shuanglin S; Deng, Hong-Wen HW
Publication Date: 2016-02
Variant appearance in text: WNT16: T263I; rs2707466
Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution.
Nucleic Acids Research
Lyon, Kenneth F KF; Strong, Christy L CL; Schooler, Steve G SG; Young, Richard J RJ; Roy, Nervik N; Ozar, Brittany B; Bachmeier, Mark M; Rajasekaran, Sanguthevar S; Schiller, Martin R MR
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
Human Molecular Genetics
Saal, Howard M HM; Prows, Cynthia A CA; Guerreiro, Iris I; Donlin, Milene M; Knudson, Luke L; Sund, Kristen L KL; Chang, Ching-Fang CF; Brugmann, Samantha A SA; Stottmann, Rolf W RW
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: WNT16: T263I; rs2707466
Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.
Plos One
Zhu, Jun J; Qiu, Jun J; Magrane, Gregg G; Abedalthagafi, Malak M; Zanko, Andrea A; Golabi, Mahin M; Chehab, Farid F FF
WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.
Plos Genetics
Zheng, Hou-Feng HF; Tobias, Jon H JH; Duncan, Emma E; Evans, David M DM; Eriksson, Joel J; Paternoster, Lavinia L; Yerges-Armstrong, Laura M LM; Lehtimäki, Terho T; Bergström, Ulrica U; Kähönen, Mika M; Leo, Paul J PJ; Raitakari, Olli O; Laaksonen, Marika M; Nicholson, Geoffrey C GC; Viikari, Jorma J; Ladouceur, Martin M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Prince, Richard L RL; Sievanen, Harri H; Leslie, William D WD; Mellström, Dan D; Eisman, John A JA; Movérare-Skrtic, Sofia S; Goltzman, David D; Hanley, David A DA; Jones, Graeme G; St Pourcain, Beate B; Xiao, Yongjun Y; Timpson, Nicholas J NJ; Smith, George Davey GD; Reid, Ian R IR; Ring, Susan M SM; Sambrook, Philip N PN; Karlsson, Magnus M; Dennison, Elaine M EM; Kemp, John P JP; Danoy, Patrick P; Sayers, Adrian A; Wilson, Scott G SG; Nethander, Maria M; McCloskey, Eugene E; Vandenput, Liesbeth L; Eastell, Richard R; Liu, Jeff J; Spector, Tim T; Mitchell, Braxton D BD; Streeten, Elizabeth A EA; Brommage, Robert R; Pettersson-Kymmer, Ulrika U; Brown, Matthew A MA; Ohlsson, Claes C; Richards, J Brent JB; Lorentzon, Mattias M
Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.
Plos Genetics
Medina-Gomez, Carolina C; Kemp, John P JP; Estrada, Karol K; Eriksson, Joel J; Liu, Jeff J; Reppe, Sjur S; Evans, David M DM; Heppe, Denise H M DH; Vandenput, Liesbeth L; Herrera, Lizbeth L; Ring, Susan M SM; Kruithof, Claudia J CJ; Timpson, Nicholas J NJ; Zillikens, M Carola MC; Olstad, Ole K OK; Zheng, Hou-Feng HF; Richards, J Brent JB; St Pourcain, Beate B; Hofman, Albert A; Jaddoe, Vincent W V VW; Smith, George Davey GD; Lorentzon, Mattias M; Gautvik, Kaare M KM; Uitterlinden, André G AG; Brommage, Robert R; Ohlsson, Claes C; Tobias, Jonathan H JH; Rivadeneira, Fernando F