Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
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
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21
Variant appearance in text: NISCH: A1056V; rs887515
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: NISCH: 3167C>T; A1056V; rs887515
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: NISCH: 3167C>T; A1056V; rs887515
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
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: NISCH: 3167C>T; Ala1056Val
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: NISCH: A1056V; rs887515
Breast cancer quantitative proteome and proteogenomic landscape.
Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08
Variant appearance in text: NISCH: 3167C>T; A1056V; rs887515
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: NISCH: A1056V; rs887515
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: NISCH: A1056V; rs887515
Chromosome Y-encoded antigens associate with acute graft-versus-host disease in sex-mismatched stem cell transplant.
Blood Advances
Wang, Wei W; Huang, Hu H; Halagan, Michael M; Vierra-Green, Cynthia C; Heuer, Michael M; Brelsford, Jason E JE; Haagenson, Michael M; Scheuermann, Richard H RH; Telenti, Amalio A; Biggs, William W; Pearson, Nathaniel M NM; Udell, Julia J; Spellman, Stephen S; Maiers, Martin M; Kennedy, Caleb J CJ
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: NISCH: A1056V; rs887515
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
Publication Date: 2015-12-08
Variant appearance in text: NISCH: A1056V; rs887515
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: NISCH: A1056V; rs887515
Discovery and refinement of loci associated with lipid levels.
Nature Genetics
Willer, Cristen J CJ; Schmidt, Ellen M EM; Sengupta, Sebanti S; Peloso, Gina M GM; Gustafsson, Stefan S; Kanoni, Stavroula S; Ganna, Andrea A; Chen, Jin J; Buchkovich, Martin L ML; Mora, Samia S; Beckmann, Jacques S JS; Bragg-Gresham, Jennifer L JL; Chang, Hsing-Yi HY; Demirkan, Ayşe A; Den Hertog, Heleen M HM; Do, Ron R; Donnelly, Louise A LA; Ehret, Georg B GB; Esko, Tõnu T; Feitosa, Mary F MF; Ferreira, Teresa T; Fischer, Krista K; Fontanillas, Pierre P; Fraser, Ross M RM; Freitag, Daniel F DF; Gurdasani, Deepti D; Heikkilä, Kauko K; Hyppönen, Elina E; Isaacs, Aaron A; Jackson, Anne U AU; Johansson, Åsa Å; Johnson, Toby T; Kaakinen, Marika M; Kettunen, Johannes J; Kleber, Marcus E ME; Li, Xiaohui X; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Magnusson, Patrik K E PKE; Mangino, Massimo M; Mihailov, Evelin E; Montasser, May E ME; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; O'Connell, Jeffrey R JR; Palmer, Cameron D CD; Perola, Markus M; Petersen, Ann-Kristin AK; Sanna, Serena S; Saxena, Richa R; Service, Susan K SK; Shah, Sonia S; Shungin, Dmitry D; Sidore, Carlo C; Song, Ci C; Strawbridge, Rona J RJ; Surakka, Ida I; Tanaka, Toshiko T; Teslovich, Tanya M TM; Thorleifsson, Gudmar G; Van den Herik, Evita G EG; Voight, Benjamin F BF; Volcik, Kelly A KA; Waite, Lindsay L LL; Wong, Andrew A; Wu, Ying Y; Zhang, Weihua W; Absher, Devin D; Asiki, Gershim G; Barroso, Inês I; Been, Latonya F LF; Bolton, Jennifer L JL; Bonnycastle, Lori L LL; Brambilla, Paolo P; Burnett, Mary S MS; Cesana, Giancarlo G; Dimitriou, Maria M; Doney, Alex S F ASF; Döring, Angela A; Elliott, Paul P; Epstein, Stephen E SE; Ingi Eyjolfsson, Gudmundur G; Gigante, Bruna B; Goodarzi, Mark O MO; Grallert, Harald H; Gravito, Martha L ML; Groves, Christopher J CJ; Hallmans, Göran G; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Hernandez, Dena D; Hicks, Andrew A AA; Holm, Hilma H; Hung, Yi-Jen YJ; Illig, Thomas T; Jones, Michelle R MR; Kaleebu, Pontiano P; Kastelein, John J P JJP; Khaw, Kay-Tee KT; Kim, Eric E; Klopp, Norman N; Komulainen, Pirjo P; Kumari, Meena M; Langenberg, Claudia C; Lehtimäki, Terho T; Lin, Shih-Yi SY; Lindström, Jaana J; Loos, Ruth J F RJF; Mach, François F; McArdle, Wendy L WL; Meisinger, Christa C; Mitchell, Braxton D BD; Müller, Gabrielle G; Nagaraja, Ramaiah R; Narisu, Narisu N; Nieminen, Tuomo V M TVM; Nsubuga, Rebecca N RN; Olafsson, Isleifur I; Ong, Ken K KK; Palotie, Aarno A; Papamarkou, Theodore T; Pomilla, Cristina C; Pouta, Anneli A; Rader, Daniel J DJ; Reilly, Muredach P MP; Ridker, Paul M PM; Rivadeneira, Fernando F; Rudan, Igor I; Ruokonen, Aimo A; Samani, Nilesh N; Scharnagl, Hubert H; Seeley, Janet J; Silander, Kaisa K; Stančáková, Alena A; Stirrups, Kathleen K; Swift, Amy J AJ; Tiret, Laurence L; Uitterlinden, Andre G AG; van Pelt, L Joost LJ; Vedantam, Sailaja S; Wainwright, Nicholas N; Wijmenga, Cisca C; Wild, Sarah H SH; Willemsen, Gonneke G; Wilsgaard, Tom T; Wilson, James F JF; Young, Elizabeth H EH; Zhao, Jing Hua JH; Adair, Linda S LS; Arveiler, Dominique D; Assimes, Themistocles L TL; Bandinelli, Stefania S; Bennett, Franklyn F; Bochud, Murielle M; Boehm, Bernhard O BO; Boomsma, Dorret I DI; Borecki, Ingrid B IB; Bornstein, Stefan R SR; Bovet, Pascal P; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chambers, John C JC; Chen, Yii-Der Ida YI; Collins, Francis S FS; Cooper, Richard S RS; Danesh, John J; Dedoussis, George G; de Faire, Ulf U; Feranil, Alan B AB; Ferrières, Jean J; Ferrucci, Luigi L; Freimer, Nelson B NB; Gieger, Christian C; Groop, Leif C LC; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hingorani, Aroon A; Hirschhorn, Joel N JN; Hofman, Albert A; Hovingh, G Kees GK; Hsiung, Chao Agnes CA; Humphries, Steve E SE; Hunt, Steven C SC; Hveem, Kristian K; Iribarren, Carlos C; Järvelin, Marjo-Riitta MR; Jula, Antti A; Kähönen, Mika M; Kaprio, Jaakko J; Kesäniemi, Antero A; Kivimaki, Mika M; Kooner, Jaspal S JS; Koudstaal, Peter J PJ; Krauss, Ronald M RM; Kuh, Diana D; Kuusisto, Johanna J; Kyvik, Kirsten O KO; Laakso, Markku M; Lakka, Timo A TA; Lind, Lars L; Lindgren, Cecilia M CM; Martin, Nicholas G NG; März, Winfried W; McCarthy, Mark I MI; McKenzie, Colin A CA; Meneton, Pierre P; Metspalu, Andres A; Moilanen, Leena L; Morris, Andrew D AD; Munroe, Patricia B PB; Njølstad, Inger I; Pedersen, Nancy L NL; Power, Chris C; Pramstaller, Peter P PP; Price, Jackie F JF; Psaty, Bruce M BM; Quertermous, Thomas T; Rauramaa, Rainer R; Saleheen, Danish D; Salomaa, Veikko V; Sanghera, Dharambir K DK; Saramies, Jouko J; Schwarz, Peter E H PEH; Sheu, Wayne H-H WH; Shuldiner, Alan R AR; Siegbahn, Agneta A; Spector, Tim D TD; Stefansson, Kari K; Strachan, David P DP; Tayo, Bamidele O BO; Tremoli, Elena E; Tuomilehto, Jaakko J; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vollenweider, Peter P; Wallentin, Lars L; Wareham, Nicholas J NJ; Whitfield, John B JB; Wolffenbuttel, Bruce H R BHR; Ordovas, Jose M JM; Boerwinkle, Eric E; Palmer, Colin N A CNA; Thorsteinsdottir, Unnur U; Chasman, Daniel I DI; Rotter, Jerome I JI; Franks, Paul W PW; Ripatti, Samuli S; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Rich, Stephen S SS; Boehnke, Michael M; Deloukas, Panos P; Kathiresan, Sekar S; Mohlke, Karen L KL; Ingelsson, Erik E; Abecasis, Gonçalo R GR; ,
Publication Date: 2013-11
Variant appearance in text: NISCH: Ala1056Val; rs887515