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: SEC31B: S332A; rs2295774
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: SEC31B: 994T>G; Ser332Ala; rs2295774
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: SEC31B: 994T>G; S332A; rs2295774
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
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: SEC31B: S332A; rs2295774
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: SEC31B: 994T>G; rs2295774
Discovery of novel heart rate-associated loci using the Exome Chip.
Human Molecular Genetics
van den Berg, Marten E ME; Warren, Helen R HR; Cabrera, Claudia P CP; Verweij, Niek N; Mifsud, Borbala B; Haessler, Jeffrey J; Bihlmeyer, Nathan A NA; Fu, Yi-Ping YP; Weiss, Stefan S; Lin, Henry J HJ; Grarup, Niels N; Li-Gao, Ruifang R; Pistis, Giorgio G; Shah, Nabi N; Brody, Jennifer A JA; Müller-Nurasyid, Martina M; Lin, Honghuang H; Mei, Hao H; Smith, Albert V AV; Lyytikäinen, Leo-Pekka LP; Hall, Leanne M LM; van Setten, Jessica J; Trompet, Stella S; Prins, Bram P BP; Isaacs, Aaron A; Radmanesh, Farid F; Marten, Jonathan J; Entwistle, Aiman A; Kors, Jan A JA; Silva, Claudia T CT; Alonso, Alvaro A; Bis, Joshua C JC; de Boer, Rudolf R; de Haan, Hugoline G HG; de Mutsert, Renée R; Dedoussis, George G; Dominiczak, Anna F AF; Doney, Alex S F ASF; Ellinor, Patrick T PT; Eppinga, Ruben N RN; Felix, Stephan B SB; Guo, Xiuqing X; Hagemeijer, Yanick Y; Hansen, Torben T; Harris, Tamara B TB; Heckbert, Susan R SR; Huang, Paul L PL; Hwang, Shih-Jen SJ; Kähönen, Mika M; Kanters, Jørgen K JK; Kolcic, Ivana I; Launer, Lenore J LJ; Li, Man M; Yao, Jie J; Linneberg, Allan A; Liu, Simin S; Macfarlane, Peter W PW; Mangino, Massimo M; Morris, Andrew D AD; Mulas, Antonella A; Murray, Alison D AD; Nelson, Christopher P CP; Orrú, Marco M; Padmanabhan, Sandosh S; Peters, Annette A; Porteous, David J DJ; Poulter, Neil N; Psaty, Bruce M BM; Qi, Lihong L; Raitakari, Olli T OT; Rivadeneira, Fernando F; Roselli, Carolina C; Rudan, Igor I; Sattar, Naveed N; Sever, Peter P; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Stanton, Alice V AV; Stirrups, Kathleen E KE; Taylor, Kent D KD; Tobin, Martin D MD; Uitterlinden, André A; Vaartjes, Ilonca I; Hoes, Arno W AW; van der Meer, Peter P; Völker, Uwe U; Waldenberger, Melanie M; Xie, Zhijun Z; Zoledziewska, Magdalena M; Tinker, Andrew A; Polasek, Ozren O; Rosand, Jonathan J; Jamshidi, Yalda Y; van Duijn, Cornelia M CM; Zeggini, Eleftheria E; Jukema, J Wouter JW; Asselbergs, Folkert W FW; Samani, Nilesh J NJ; Lehtimäki, Terho T; Gudnason, Vilmundur V; Wilson, James J; Lubitz, Steven A SA; Kääb, Stefan S; Sotoodehnia, Nona N; Caulfield, Mark J MJ; Palmer, Colin N A CNA; Sanna, Serena S; Mook-Kanamori, Dennis O DO; Deloukas, Panos P; Pedersen, Oluf O; Rotter, Jerome I JI; Dörr, Marcus M; O'Donnell, Chris J CJ; Hayward, Caroline C; Arking, Dan E DE; Kooperberg, Charles C; van der Harst, Pim P; Eijgelsheim, Mark M; Stricker, Bruno H BH; Munroe, Patricia B PB
Publication Date: 2017-06-15
Variant appearance in text: SEC31B: Ser332Ala; rs2295774
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: SEC31B: S332A; rs2295774
Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.
Plos One
Chen, Jian J; Raju, Gottumukkala S GS; Jogunoori, Wilma W; Menon, Vipin V; Majumdar, Avijit A; Chen, Jiun-Sheng JS; Gi, Young Jin YJ; Jeong, Yun Seong YS; Phan, Liem L; Belkin, Mitchell M; Gu, Shoujun S; Kundra, Suchin S; Mistry, Nipun A NA; Zhang, Jianping J; Su, Xiaoping X; Li, Shulin S; Lin, Sue-Hwa SH; Javle, Milind M; McMurray, John S JS; Rahlfs, Thomas F TF; Mishra, Bibhuti B; White, Jon J; Rashid, Asif A; Beauchemin, Nicole N; Weston, Brian R BR; Shafi, Mehnaz A MA; Stroehlein, John R JR; Davila, Marta M; Akbani, Rehan R; Weinstein, John N JN; Wu, Xifeng X; Mishra, Lopa L
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: SEC31B: S332A; rs2295774