Sex differences in the genetics of sarcoidosis across European and African ancestry populations.
Frontiers In Medicine
Xiong, Ying Y; Kullberg, Susanna S; Garman, Lori L; Pezant, Nathan N; Ellinghaus, David D; Vasila, Vasiliki V; Eklund, Anders A; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Schreiber, Stefan S; Müller-Quernheim, Joachim J; Montgomery, Courtney G CG; Grunewald, Johan J; Padyukov, Leonid L; Rivera, Natalia V NV
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
Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17
Variant appearance in text: NOTCH4: 2967A>C; Gly989Gly; rs1044506
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: NOTCH4: G989G; rs1044506
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: NOTCH4: G989G; rs1044506
Genetic association of sequence variants near AGER/NOTCH4 and dementia.
Journal Of Alzheimer'S Disease : Jad
Bennet, Anna M AM; Reynolds, Chandra A CA; Eriksson, Ulrika K UK; Hong, Mun-Gwan MG; Blennow, Kaj K; Gatz, Margaret M; Alexeyenko, Andrey A; Pedersen, Nancy L NL; Prince, Jonathan A JA
Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.
Journal Of Alzheimer'S Disease : Jad
Sherva, Richard R; Baldwin, Clinton T CT; Inzelberg, Rivka R; Vardarajan, Badri B; Cupples, L Adrienne LA; Lunetta, Kathryn K; Bowirrat, Abdalla A; Naj, Adam A; Pericak-Vance, Margaret M; Friedland, Robert P RP; Farrer, Lindsay A LA