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
Publication Date: 2022-06-29
Variant appearance in text: PRRC2A: V792V; rs3130626
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
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: PRRC2A: V792V; rs3130626
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients.
Bmc Medical Genomics
Paziewska, Agnieszka A; Habior, Andrzej A; Rogowska, Agnieszka A; Zych, Włodzimierz W; Goryca, Krzysztof K; Karczmarski, Jakub J; Dabrowska, Michalina M; Ambrozkiewicz, Filip F; Walewska-Zielecka, Bozena B; Krawczyk, Marek M; Cichoz-Lach, Halina H; Milkiewicz, Piotr P; Kowalik, Agnieszka A; Mucha, Krzysztof K; Raczynska, Joanna J; Musialik, Joanna J; Boryczka, Grzegorz G; Wasilewicz, Michal M; Ciecko-Michalska, Irena I; Ferenc, Malgorzata M; Janiak, Maria M; Kanikowska, Alina A; Stankiewicz, Rafal R; Hartleb, Marek M; Mach, Tomasz T; Grzymislawski, Marian M; Raszeja-Wyszomirska, Joanna J; Wunsch, Ewa E; Bobinski, Tomasz T; Mikula, Michal M; Ostrowski, Jerzy J
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: PRRC2A: V792V; rs3130626
A comprehensive family-based replication study of schizophrenia genes.
Jama Psychiatry
Aberg, Karolina A KA; Liu, Youfang Y; Bukszár, Jozsef J; McClay, Joseph L JL; Khachane, Amit N AN; Andreassen, Ole A OA; Blackwood, Douglas D; Corvin, Aiden A; Djurovic, Srdjan S; Gurling, Hugh H; Ophoff, Roel R; Pato, Carlos N CN; Pato, Michele T MT; Riley, Brien B; Webb, Todd T; Kendler, Kenneth K; O'Donovan, Mick M; Craddock, Nick N; Kirov, George G; Owen, Mike M; Rujescu, Dan D; St Clair, David D; Werge, Thomas T; Hultman, Christina M CM; Delisi, Lynn E LE; Sullivan, Patrick P; van den Oord, Edwin J EJ
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH