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 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
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: HERC2: G815G; rs11631797
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.
Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.
Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP
A Common Genetic Origin for Early Farmers from Mediterranean Cardial and Central European LBK Cultures.
Molecular Biology And Evolution
Olalde, Iñigo I; Schroeder, Hannes H; Sandoval-Velasco, Marcela M; Vinner, Lasse L; Lobón, Irene I; Ramirez, Oscar O; Civit, Sergi S; García Borja, Pablo P; Salazar-García, Domingo C DC; Talamo, Sahra S; María Fullola, Josep J; Xavier Oms, Francesc F; Pedro, Mireia M; Martínez, Pablo P; Sanz, Montserrat M; Daura, Joan J; Zilhão, João J; Marquès-Bonet, Tomàs T; Gilbert, M Thomas P MT; Lalueza-Fox, Carles C
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: HERC2: G815G; rs11631797
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Nature
Lazaridis, Iosif I; Patterson, Nick N; Mittnik, Alissa A; Renaud, Gabriel G; Mallick, Swapan S; Kirsanow, Karola K; Sudmant, Peter H PH; Schraiber, Joshua G JG; Castellano, Sergi S; Lipson, Mark M; Berger, Bonnie B; Economou, Christos C; Bollongino, Ruth R; Fu, Qiaomei Q; Bos, Kirsten I KI; Nordenfelt, Susanne S; Li, Heng H; de Filippo, Cesare C; Prüfer, Kay K; Sawyer, Susanna S; Posth, Cosimo C; Haak, Wolfgang W; Hallgren, Fredrik F; Fornander, Elin E; Rohland, Nadin N; Delsate, Dominique D; Francken, Michael M; Guinet, Jean-Michel JM; Wahl, Joachim J; Ayodo, George G; Babiker, Hamza A HA; Bailliet, Graciela G; Balanovska, Elena E; Balanovsky, Oleg O; Barrantes, Ramiro R; Bedoya, Gabriel G; Ben-Ami, Haim H; Bene, Judit J; Berrada, Fouad F; Bravi, Claudio M CM; Brisighelli, Francesca F; Busby, George B J GB; Cali, Francesco F; Churnosov, Mikhail M; Cole, David E C DE; Corach, Daniel D; Damba, Larissa L; van Driem, George G; Dryomov, Stanislav S; Dugoujon, Jean-Michel JM; Fedorova, Sardana A SA; Gallego Romero, Irene I; Gubina, Marina M; Hammer, Michael M; Henn, Brenna M BM; Hervig, Tor T; Hodoglugil, Ugur U; Jha, Aashish R AR; Karachanak-Yankova, Sena S; Khusainova, Rita R; Khusnutdinova, Elza E; Kittles, Rick R; Kivisild, Toomas T; Klitz, William W; Kučinskas, Vaidutis V; Kushniarevich, Alena A; Laredj, Leila L; Litvinov, Sergey S; Loukidis, Theologos T; Mahley, Robert W RW; Melegh, Béla B; Metspalu, Ene E; Molina, Julio J; Mountain, Joanna J; Näkkäläjärvi, Klemetti K; Nesheva, Desislava D; Nyambo, Thomas T; Osipova, Ludmila L; Parik, Jüri J; Platonov, Fedor F; Posukh, Olga O; Romano, Valentino V; Rothhammer, Francisco F; Rudan, Igor I; Ruizbakiev, Ruslan R; Sahakyan, Hovhannes H; Sajantila, Antti A; Salas, Antonio A; Starikovskaya, Elena B EB; Tarekegn, Ayele A; Toncheva, Draga D; Turdikulova, Shahlo S; Uktveryte, Ingrida I; Utevska, Olga O; Vasquez, René R; Villena, Mercedes M; Voevoda, Mikhail M; Winkler, Cheryl A CA; Yepiskoposyan, Levon L; Zalloua, Pierre P; Zemunik, Tatijana T; Cooper, Alan A; Capelli, Cristian C; Thomas, Mark G MG; Ruiz-Linares, Andres A; Tishkoff, Sarah A SA; Singh, Lalji L; Thangaraj, Kumarasamy K; Villems, Richard R; Comas, David D; Sukernik, Rem R; Metspalu, Mait M; Meyer, Matthias M; Eichler, Evan E EE; Burger, Joachim J; Slatkin, Montgomery M; Pääbo, Svante S; Kelso, Janet J; Reich, David D; Krause, Johannes J