Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.
Clinical Epigenetics
El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
The Lancet Regional Health. Europe
Thuesen, Anne Cathrine Baun ACB; Stæger, Frederik Filip FF; Kaci, Alba A; Solheim, Marie Holm MH; Aukrust, Ingvild I; Jørsboe, Emil E; Santander, Cindy G CG; Andersen, Mette K MK; Li, Zilong Z; Gilly, Arthur A; Stinson, Sara Elizabeth SE; Gjesing, Anette Prior AP; Bjerregaard, Peter P; Pedersen, Michael Lynge ML; Larsen, Christina Viskum Lytken CVL; Grarup, Niels N; Jørgensen, Marit E ME; Zeggini, Eleftheria E; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Albrechtsen, Anders A; Moltke, Ida I; Hansen, Torben T
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Genome Biology
Kanoni, Stavroula S; Graham, Sarah E SE; Wang, Yuxuan Y; Surakka, Ida I; Ramdas, Shweta S; Zhu, Xiang X; Clarke, Shoa L SL; Bhatti, Konain Fatima KF; Vedantam, Sailaja S; Winkler, Thomas W TW; Locke, Adam E AE; Marouli, Eirini E; Zajac, Greg J M GJM; Wu, Kuan-Han H KH; Ntalla, Ioanna I; Hui, Qin Q; Klarin, Derek D; Hilliard, Austin T AT; Wang, Zeyuan Z; Xue, Chao C; Thorleifsson, Gudmar G; Helgadottir, Anna A; Gudbjartsson, Daniel F DF; Holm, Hilma H; Olafsson, Isleifur I; Hwang, Mi Yeong MY; Han, Sohee S; Akiyama, Masato M; Sakaue, Saori S; Terao, Chikashi C; Kanai, Masahiro M; Zhou, Wei W; Brumpton, Ben M BM; Rasheed, Humaira H; Havulinna, Aki S AS; Veturi, Yogasudha Y; Pacheco, Jennifer Allen JA; Rosenthal, Elisabeth A EA; Lingren, Todd T; Feng, QiPing Q; Kullo, Iftikhar J IJ; Narita, Akira A; Takayama, Jun J; Martin, Hilary C HC; Hunt, Karen A KA; Trivedi, Bhavi B; Haessler, Jeffrey J; Giulianini, Franco F; Bradford, Yuki Y; Miller, Jason E JE; Campbell, Archie A; Lin, Kuang K; Millwood, Iona Y IY; Rasheed, Asif A; Hindy, George G; Faul, Jessica D JD; Zhao, Wei W; Weir, David R DR; Turman, Constance C; Huang, Hongyan H; Graff, Mariaelisa M; Choudhury, Ananyo A; Sengupta, Dhriti D; Mahajan, Anubha A; Brown, Michael R MR; Zhang, Weihua W; Yu, Ketian K; Schmidt, Ellen M EM; Pandit, Anita A; Gustafsson, Stefan S; Yin, Xianyong X; Luan, Jian'an J; Zhao, Jing-Hua JH; Matsuda, Fumihiko F; Jang, Hye-Mi HM; Yoon, Kyungheon K; Medina-Gomez, Carolina C; Pitsillides, Achilleas A; Hottenga, Jouke Jan JJ; Wood, Andrew R AR; Ji, Yingji Y; Gao, Zishan Z; Haworth, Simon S; Yousri, Noha A NA; Mitchell, Ruth E RE; Chai, Jin Fang JF; Aadahl, Mette M; Bjerregaard, Anne A AA; Yao, Jie J; Manichaikul, Ani A; Hwu, Chii-Min CM; Hung, Yi-Jen YJ; Warren, Helen R HR; Ramirez, Julia J; Bork-Jensen, Jette J; Kårhus, Line L LL; Goel, Anuj A; Sabater-Lleal, Maria M; Noordam, Raymond R; Mauro, Pala P; Matteo, Floris F; McDaid, Aaron F AF; Marques-Vidal, Pedro P; Wielscher, Matthias M; Trompet, Stella S; Sattar, Naveed N; Møllehave, Line T LT; Munz, Matthias M; Zeng, Lingyao L; Huang, Jianfeng J; Yang, Bin B; Poveda, Alaitz A; Kurbasic, Azra A; Lamina, Claudia C; Forer, Lukas L; Scholz, Markus M; Galesloot, Tessel E TE; Bradfield, Jonathan P JP; Ruotsalainen, Sanni E SE; Daw, EWarwick E; Zmuda, Joseph M JM; Mitchell, Jonathan S JS; Fuchsberger, Christian C; Christensen, Henry H; Brody, Jennifer A JA; Vazquez-Moreno, Miguel M; Feitosa, Mary F MF; Wojczynski, Mary K MK; Wang, Zhe Z; Preuss, Michael H MH; Mangino, Massimo M; Christofidou, Paraskevi P; Verweij, Niek N; Benjamins, Jan W JW; Engmann, Jorgen J; Tsao, Noah L NL; Verma, Anurag A; Slieker, Roderick C RC; Lo, Ken Sin KS; Zilhao, Nuno R NR; Le, Phuong P; Kleber, Marcus E ME; Delgado, Graciela E GE; Huo, Shaofeng S; Ikeda, Daisuke D DD; Iha, Hiroyuki H; Yang, Jian J; Liu, Jun J; Demirkan, Ayşe A; Leonard, Hampton L HL; Marten, Jonathan J; Frank, Mirjam M; Schmidt, Börge B; Smyth, Laura J LJ; Cañadas-Garre, Marisa M; Wang, Chaolong C; Nakatochi, Masahiro M; Wong, Andrew A; Hutri-Kähönen, Nina N; Sim, Xueling X; Xia, Rui R; Huerta-Chagoya, Alicia A; Fernandez-Lopez, Juan Carlos JC; Lyssenko, Valeriya V; Nongmaithem, Suraj S SS; Bayyana, Swati S; Stringham, Heather M HM; Irvin, Marguerite R MR; Oldmeadow, Christopher C; Kim, Han-Na HN; Ryu, Seungho S; Timmers, Paul R H J PRHJ; Arbeeva, Liubov L; Dorajoo, Rajkumar R; Lange, Leslie A LA; Prasad, Gauri G; Lorés-Motta, Laura L; Pauper, Marc M; Long, Jirong J; Li, Xiaohui X; Theusch, Elizabeth E; Takeuchi, Fumihiko F; Spracklen, Cassandra N CN; Loukola, Anu A; Bollepalli, Sailalitha S; Warner, Sophie C SC; Wang, Ya Xing YX; Wei, Wen B WB; Nutile, Teresa T; Ruggiero, Daniela D; Sung, Yun Ju YJ; Chen, Shufeng S; Liu, Fangchao F; Yang, Jingyun J; Kentistou, Katherine A KA; Banas, Bernhard B; Nardone, Giuseppe Giovanni GG; Meidtner, Karina K; Bielak, Lawrence F LF; Smith, Jennifer A JA; Hebbar, Prashantha P; Farmaki, Aliki-Eleni AE; Hofer, Edith E; Lin, Maoxuan M; Concas, Maria Pina MP; Vaccargiu, Simona S; van der Most, Peter J PJ; Pitkänen, Niina N; Cade, Brian E BE; van der Laan, Sander W SW; Chitrala, Kumaraswamy Naidu KN; Weiss, Stefan S; Bentley, Amy R AR; Doumatey, Ayo P AP; Adeyemo, Adebowale A AA; Lee, Jong Young JY; Petersen, Eva R B ERB; Nielsen, Aneta A AA; Choi, Hyeok Sun HS; Nethander, Maria M; Freitag-Wolf, Sandra S; Southam, Lorraine L; Rayner, Nigel W NW; Wang, Carol A CA; Lin, Shih-Yi SY; Wang, Jun-Sing JS; Couture, Christian C; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Cuellar-Partida, Gabriel G; Vestergaard, Henrik H; Hidalgo, Bertha B; Giannakopoulou, Olga O; Cai, Qiuyin Q; Obura, Morgan O MO; van Setten, Jessica J; Li, Xiaoyin X; Liang, Jingjing J; Tang, Hua H; Terzikhan, Natalie N; Shin, Jae Hun JH; Jackson, Rebecca D RD; Reiner, Alexander P AP; Martin, Lisa Warsinger LW; Chen, Zhengming Z; Li, Liming L; Kawaguchi, Takahisa T; Thiery, Joachim J; Bis, Joshua C JC; Launer, Lenore J LJ; Li, Huaixing H; Nalls, Mike A MA; Raitakari, Olli T OT; Ichihara, Sahoko S; Wild, Sarah H SH; Nelson, Christopher P CP; Campbell, Harry H; Jäger, Susanne S; Nabika, Toru T; Al-Mulla, Fahd F; Niinikoski, Harri H; Braund, Peter S PS; Kolcic, Ivana I; Kovacs, Peter P; Giardoglou, Tota T; Katsuya, Tomohiro T; de Kleijn, Dominique D; de Borst, Gert J GJ; Kim, Eung Kweon EK; Adams, Hieab H H HHH; Ikram, M Arfan MA; Zhu, Xiaofeng X; Asselbergs, Folkert W FW; Kraaijeveld, Adriaan O AO; Beulens, Joline W J JWJ; Shu, Xiao-Ou XO; Rallidis, Loukianos S LS; Pedersen, Oluf O; Hansen, Torben T; Mitchell, Paul P; Hewitt, Alex W AW; Kähönen, Mika M; Pérusse, Louis L; Bouchard, Claude C; Tönjes, Anke A; Chen, Yii-Der Ida YI; Pennell, Craig E CE; Mori, Trevor A TA; Lieb, Wolfgang W; Franke, Andre A; Ohlsson, Claes C; Mellström, Dan D; Cho, Yoon Shin YS; Lee, Hyejin H; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Rhee, Sang Youl SY; Woo, Jeong-Taek JT; Heid, Iris M IM; Stark, Klaus J KJ; Zimmermann, Martina E ME; Völzke, Henry H; Homuth, Georg G; Evans, Michele K MK; Zonderman, Alan B AB; Polasek, Ozren O; Pasterkamp, Gerard G; Hoefer, Imo E IE; Redline, Susan S; Pahkala, Katja K; Oldehinkel, Albertine J AJ; Snieder, Harold H; Biino, Ginevra G; Schmidt, Reinhold R; Schmidt, Helena H; Bandinelli, Stefania S; Dedoussis, George G; Thanaraj, Thangavel Alphonse TA; Kardia, Sharon L R SLR; Peyser, Patricia A PA; Kato, Norihiro N; Schulze, Matthias B MB; Girotto, Giorgia G; Böger, Carsten A CA; Jung, Bettina B; Joshi, Peter K PK; Bennett, David A DA; De Jager, Philip L PL; Lu, Xiangfeng X; Mamakou, Vasiliki V; Brown, Morris M; Caulfield, Mark J MJ; Munroe, Patricia B PB; Guo, Xiuqing X; Ciullo, Marina M; Jonas, Jost B JB; Samani, Nilesh J NJ; Kaprio, Jaakko J; Pajukanta, Päivi P; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Adair, Linda S LS; Bechayda, Sonny Augustin SA; de Silva, H Janaka HJ; Wickremasinghe, Ananda R AR; Krauss, Ronald M RM; Wu, Jer-Yuarn JY; Zheng, Wei W; Hollander, Anneke Iden AI; Bharadwaj, Dwaipayan D; Correa, Adolfo A; Wilson, James G JG; Lind, Lars L; Heng, Chew-Kiat CK; Nelson, Amanda E AE; Golightly, Yvonne M YM; Wilson, James F JF; Penninx, Brenda B; Kim, Hyung-Lae HL; Attia, John J; Scott, Rodney J RJ; Rao, D C DC; Arnett, Donna K DK; Hunt, Steven C SC; Walker, Mark M; Koistinen, Heikki A HA; Chandak, Giriraj R GR; Mercader, Josep M JM; Costanzo, Maria C MC; Jang, Dongkeun D; Burtt, Noël P NP; Villalpando, Clicerio Gonzalez CG; Orozco, Lorena L; Fornage, Myriam M; Tai, EShyong E; van Dam, Rob M RM; Lehtimäki, Terho T; Chaturvedi, Nish N; Yokota, Mitsuhiro M; Liu, Jianjun J; Reilly, Dermot F DF; McKnight, Amy Jayne AJ; Kee, Frank F; Jöckel, Karl-Heinz KH; McCarthy, Mark I MI; Palmer, Colin N A CNA; Vitart, Veronique V; Hayward, Caroline C; Simonsick, Eleanor E; van Duijn, Cornelia M CM; Jin, Zi-Bing ZB; Qu, Jia J; Hishigaki, Haretsugu H; Lin, Xu X; März, Winfried W; Gudnason, Vilmundur V; Tardif, Jean-Claude JC; Lettre, Guillaume G; Hart, Leen M 't LM'; Elders, Petra J M PJM; Damrauer, Scott M SM; Kumari, Meena M; Kivimaki, Mika M; van der Harst, Pim P; Spector, Tim D TD; Loos, Ruth J F RJF; Province, Michael A MA; Parra, Esteban J EJ; Cruz, Miguel M; Psaty, Bruce M BM; Brandslund, Ivan I; Pramstaller, Peter P PP; Rotimi, Charles N CN; Christensen, Kaare K; Ripatti, Samuli S; Widén, Elisabeth E; Hakonarson, Hakon H; Grant, Struan F A SFA; Kiemeney, Lambertus A L M LALM; de Graaf, Jacqueline J; Loeffler, Markus M; Kronenberg, Florian F; Gu, Dongfeng D; Erdmann, Jeanette J; Schunkert, Heribert H; Franks, Paul W PW; Linneberg, Allan A; Jukema, J Wouter JW; Khera, Amit V AV; Männikkö, Minna M; Jarvelin, Marjo-Riitta MR; Kutalik, Zoltan Z; Francesco, Cucca C; Mook-Kanamori, Dennis O DO; van Dijk, Ko Willems KW; Watkins, Hugh H; Strachan, David P DP; Grarup, Niels N; Sever, Peter P; Poulter, Neil N; Chuang, Lee-Ming LM; Rotter, Jerome I JI; Dantoft, Thomas M TM; Karpe, Fredrik F; Neville, Matt J MJ; Timpson, Nicholas J NJ; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Khor, Chiea Chuen CC; Li, Hengtong H; Sabanayagam, Charumathi C; Peters, Annette A; Gieger, Christian C; Hattersley, Andrew T AT; Pedersen, Nancy L NL; Magnusson, Patrik K E PKE; Boomsma, Dorret I DI; Willemsen, Allegonda H M AHM; Cupples, LAdrienne L; van Meurs, Joyce B J JBJ; Ghanbari, Mohsen M; Gordon-Larsen, Penny P; Huang, Wei W; Kim, Young Jin YJ; Tabara, Yasuharu Y; Wareham, Nicholas J NJ; Langenberg, Claudia C; Zeggini, Eleftheria E; Kuusisto, Johanna J; Laakso, Markku M; Ingelsson, Erik E; Abecasis, Goncalo G; Chambers, John C JC; Kooner, Jaspal S JS; de Vries, Paul S PS; Morrison, Alanna C AC; Hazelhurst, Scott S; Ramsay, Michèle M; North, Kari E KE; Daviglus, Martha M; Kraft, Peter P; Martin, Nicholas G NG; Whitfield, John B JB; Abbas, Shahid S; Saleheen, Danish D; Walters, Robin G RG; Holmes, Michael V MV; Black, Corri C; Smith, Blair H BH; Baras, Aris A; Justice, Anne E AE; Buring, Julie E JE; Ridker, Paul M PM; Chasman, Daniel I DI; Kooperberg, Charles C; Tamiya, Gen G; Yamamoto, Masayuki M; van Heel, David A DA; Trembath, Richard C RC; Wei, Wei-Qi WQ; Jarvik, Gail P GP; Namjou, Bahram B; Hayes, M Geoffrey MG; Ritchie, Marylyn D MD; Jousilahti, Pekka P; Salomaa, Veikko V; Hveem, Kristian K; Åsvold, Bjørn Olav BO; Kubo, Michiaki M; Kamatani, Yoichiro Y; Okada, Yukinori Y; Murakami, Yoshinori Y; Kim, Bong-Jo BJ; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Zhang, Jifeng J; Chen, YEugene Y; Ho, Yuk-Lam YL; Lynch, Julie A JA; Rader, Daniel J DJ; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Gaziano, John M JM; Wilson, Peter W F PWF; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Kathiresan, Sekar S; Mohlke, Karen L KL; Sun, Yan V YV; Morris, Andrew P AP; Boehnke, Michael M; Brown, Christopher D CD; Natarajan, Pradeep P; Deloukas, Panos P; Willer, Cristen J CJ; Assimes, Themistocles L TL; Peloso, Gina M GM
Publication Date: 2022-12-27
Variant appearance in text: HNF1A: Ile27Leu; rs1169288
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.
Metabolism Open
Daggag, Hinda H; Gjesing, Anette P AP; Mohammad, Alshafi A; Ängquist, Lars L; Shobi, Bindu B; Antony, Suma S; Haj, Dalia D; Al Tikriti, Alia A; Buckley, Adam A; Hansen, Torben T; Barakat, Maha T MT
Publication Date: 2022-12
Variant appearance in text: HNF1A: I27L; rs1169288
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
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.
Acta Neuropathologica
Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F
Publication Date: 2022-10
Variant appearance in text: HNF1A: 79A>C; Ile27Leu; rs1169288
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: HNF1A: I27L; rs1169288
Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.
Pathology Oncology Research : Por
Li, Lihong L; Song, Qianqian Q; Cao, Dandan D; Jiao, Yuchen Y; Yuan, Guangwen G; Song, Yan Y
Publication Date: 2022
Variant appearance in text: HNF1A: 79A>C; Ile27Leu
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05
Variant appearance in text: HNF1A: 79A>C; I27L; rs1169288
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Publication Date: 2022-01-06
Variant appearance in text: HNF1A: I27L; rs1169288
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Publication Date: 2022-01-06
Variant appearance in text: HNF1A: I27L; rs1169288
Transcriptomic analysis of elderly women with low muscle mass: association with immune system pathway.
Aging
Jales Neto, Levi H LH; Hounkpe, Bidossessi W BW; Fernandes, Georgea H GH; Takayama, Liliam L; Caparbo, Valéria F VF; Lopes, Neuza H M NHM; Pereira, Alexandre C AC; Pereira, Rosa M R RMR
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.
Frontiers In Endocrinology
Moalla, Mariam M; Safi, Wajdi W; Babiker Mansour, Maab M; Hadj Kacem, Mohamed M; Mahfood, Mona M; Abid, Mohamed M; Kammoun, Thouraya T; Hachicha, Mongia M; Mnif-Feki, Mouna M; Hadj Kacem, Faten F; Hadj Kacem, Hassen H
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: HNF1A: 79A>C; Ile27Leu; rs1169288
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: HNF1A: 79A>C; I27L; rs1169288
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02
Variant appearance in text: HNF1A: 79A>C; Ile27Leu; rs1169288
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
American Journal Of Human Genetics
Althari, Sara S; Najmi, Laeya A LA; Bennett, Amanda J AJ; Aukrust, Ingvild I; Rundle, Jana K JK; Colclough, Kevin K; Molnes, Janne J; Kaci, Alba A; Nawaz, Sameena S; van der Lugt, Timme T; Hassanali, Neelam N; Mahajan, Anubha A; Molven, Anders A; Ellard, Sian S; McCarthy, Mark I MI; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Gloyn, Anna L AL
Publication Date: 2020-10-01
Variant appearance in text: HNF1A: 79A>C; Ile27Leu