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
Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients.
Journal Of Clinical Medicine
Estrada, Natalia N; Zamora, Lurdes L; Ferrer-Marín, Francisca F; Palomo, Laura L; García, Olga O; Vélez, Patricia P; De la Fuente, Iris I; Sagüés, Miguel M; Cabezón, Marta M; Cortés, Montserrat M; Vallansot, Rolando Omar RO; Senín-Magán, María Alicia MA; Boqué, Concepción C; Xicoy, Blanca B
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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
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: SPG7: 2063G>A; Arg688Gln; rs12960
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: SPG7: 2063G>A; R688Q; rs12960
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
Brain Pathology (Zurich, Switzerland)
Hedberg-Oldfors, Carola C; Lindgren, Ulrika U; Basu, Swaraj S; Visuttijai, Kittichate K; Lindberg, Christopher C; Falkenberg, Maria M; Larsson Lekholm, Erik E; Oldfors, Anders A
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Journal Of Neurology
Osmanovic, Alma A; Widjaja, Maylin M; Förster, Alisa A; Weder, Julia J; Wattjes, Mike P MP; Lange, Inken I; Sarikidi, Anastasia A; Auber, Bernd B; Raab, Peter P; Christians, Anne A; Preller, Matthias M; Petri, Susanne S; Weber, Ruthild G RG
Publication Date: 2020-09
Variant appearance in text: SPG7: 2063G>A; R688Q; rs12960
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: SPG7: 2063G>A; Arg688Gln
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
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
Publication Date: 2019-02-27
Variant appearance in text: SPG7: 2063G>A; rs12960
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
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.
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.
Oncotarget
Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P
Genetic analysis for a shared biological basis between migraine and coronary artery disease.
Neurology. Genetics
Winsvold, Bendik S BS; Nelson, Christopher P CP; Malik, Rainer R; Gormley, Padhraig P; Anttila, Verneri V; Vander Heiden, Jason J; Elliott, Katherine S KS; Jacobsen, Line M LM; Palta, Priit P; Amin, Najaf N; de Vries, Boukje B; Hämäläinen, Eija E; Freilinger, Tobias T; Ikram, M Arfan MA; Kessler, Thorsten T; Koiranen, Markku M; Ligthart, Lannie L; McMahon, George G; Pedersen, Linda M LM; Willenborg, Christina C; Won, Hong-Hee HH; Olesen, Jes J; Artto, Ville V; Assimes, Themistocles L TL; Blankenberg, Stefan S; Boomsma, Dorret I DI; Cherkas, Lynn L; Davey Smith, George G; Epstein, Stephen E SE; Erdmann, Jeanette J; Ferrari, Michel D MD; Göbel, Hartmut H; Hall, Alistair S AS; Jarvelin, Marjo-Riitta MR; Kallela, Mikko M; Kaprio, Jaakko J; Kathiresan, Sekar S; Lehtimäki, Terho T; McPherson, Ruth R; März, Winfried W; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; Quaye, Lydia L; Rader, Daniel J DJ; Raitakari, Olli O; Roberts, Robert R; Schunkert, Heribert H; Schürks, Markus M; Stewart, Alexandre F R AF; Terwindt, Gisela M GM; Thorsteinsdottir, Unnur U; van den Maagdenberg, Arn M J M AM; van Duijn, Cornelia C; Wessman, Maija M; Kurth, Tobias T; Kubisch, Christian C; Dichgans, Martin M; Chasman, Daniel I DI; Cotsapas, Chris C; Zwart, John-Anker JA; Samani, Nilesh J NJ; Palotie, Aarno A; ,
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
Genotyping concordance in DNA extracted from formalin-fixed paraffin embedded (FFPE) breast tumor and whole blood for pharmacogenetic analyses.
Molecular Oncology
Hertz, Daniel L DL; Kidwell, Kelley M KM; Thibert, Jacklyn N JN; Gersch, Christina C; Regan, Meredith M MM; Skaar, Todd C TC; Henry, N Lynn NL; Hayes, Daniel F DF; Van Poznak, Catherine H CH; Rae, James M JM
Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption.
Plos One
Bergen, Andrew W AW; Michel, Martha M; Nishita, Denise D; Krasnow, Ruth R; Javitz, Harold S HS; Conneely, Karen N KN; Lessov-Schlaggar, Christina N CN; Hops, Hyman H; Zhu, Andy Z X AZ; Baurley, James W JW; McClure, Jennifer B JB; Hall, Sharon M SM; Baker, Timothy B TB; Conti, David V DV; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF; Swan, Gary E GE; ,
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
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
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM