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
Mendelian randomization analysis of arsenic metabolism and pulmonary function within the Hispanic Community Health Study/Study of Latinos.
Scientific Reports
Scannell Bryan, Molly M; Sofer, Tamar T; Afshar, Majid M; Mossavar-Rahmani, Yasmin Y; Hosgood, H Dean HD; Punjabi, Naresh M NM; Zeng, Donglin D; Daviglus, Martha L ML; Argos, Maria M
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: FTCD: 301G>A; Val101Met; rs61735836
Rare, Protein-Altering Variants in AS3MT and Arsenic Metabolism Efficiency: A Multi-Population Association Study.
Environmental Health Perspectives
Delgado, Dayana A DA; Chernoff, Meytal M; Huang, Lei L; Tong, Lin L; Chen, Lin L; Jasmine, Farzana F; Shinkle, Justin J; Cole, Shelley A SA; Haack, Karin K; Kent, Jack J; Umans, Jason J; Best, Lyle G LG; Nelson, Heather H; Griend, Donald Vander DV; Graziano, Joseph J; Kibriya, Muhammad G MG; Navas-Acien, Ana A; Karagas, Margaret R MR; Ahsan, Habibul H; Pierce, Brandon L BL
Assessing the impact of arsenic metabolism efficiency on DNA methylation using Mendelian randomization.
Environmental Epidemiology (Philadelphia, Pa.)
DiGiovanni, Anthony A; Demanelis, Kathryn K; Tong, Lin L; Argos, Maria M; Shinkle, Justin J; Jasmine, Farzana F; Sabarinathan, Mekala M; Rakibuz-Zaman, Muhammad M; Sarwar, Golam G; Islam, Md Tariqul MT; Shahriar, Hasan H; Islam, Tariqul T; Rahman, Mahfuzar M; Yunus, Md M; Graziano, Joseph J; Gamble, Mary V MV; Ahsan, Habibul H; Pierce, Brandon L BL
Mendelian randomization of inorganic arsenic metabolism as a risk factor for hypertension- and diabetes-related traits among adults in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) cohort.
International Journal Of Epidemiology
Scannell Bryan, Molly M; Sofer, Tamar T; Mossavar-Rahmani, Yasmin Y; Thyagarajan, Bharat B; Zeng, Donglin D; Daviglus, Martha L ML; Argos, Maria M
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
Publication Date: 2019-03-20
Variant appearance in text: FTCD: V101M; rs61735836
A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
Plos Genetics
Pierce, Brandon L BL; Tong, Lin L; Dean, Samantha S; Argos, Maria M; Jasmine, Farzana F; Rakibuz-Zaman, Muhammad M; Sarwar, Golam G; Islam, Md Tariqul MT; Shahriar, Hasan H; Islam, Tariqul T; Rahman, Mahfuzar M; Yunus, Md M; Lynch, Vincent J VJ; Oglesbee, Devin D; Graziano, Joseph H JH; Kibriya, Muhammad G MG; Gamble, Mary V MV; Ahsan, Habibul H
Publication Date: 2019-03
Variant appearance in text: FTCD: Val101Met; rs61735836
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Plos One
Skarp, Sini S; Kämäräinen, Olli-Pekka OP; Wei, Gong-Hong GH; Jakkula, Eveliina E; Kiviranta, Ilkka I; Kröger, Heikki H; Auvinen, Juha J; Lehenkari, Petri P; Ala-Kokko, Leena L; Männikkö, Minna M
Publication Date: 2018
Variant appearance in text: FTCD: V101M; rs61735836
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
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: FTCD: V101M; rs61735836
Clonal relationships between lobular carcinoma in situ and other breast malignancies.
Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
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: FTCD: V101M; rs61735836
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.
Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J