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
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: A98V; rs1800574
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
Publication Date: 2022-10-14
Variant appearance in text: HNF1A: A98V; rs1800574
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
Publication Date: 2021
Variant appearance in text: HNF1A: 293C>T; rs1800574
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.
Nature Communications
Stanzick, Kira J KJ; Li, Yong Y; Schlosser, Pascal P; Gorski, Mathias M; Wuttke, Matthias M; Thomas, Laurent F LF; Rasheed, Humaira H; Rowan, Bryce X BX; Graham, Sarah E SE; Vanderweff, Brett R BR; Patil, Snehal B SB; , ; Robinson-Cohen, Cassiane C; Gaziano, John M JM; O'Donnell, Christopher J CJ; Willer, Cristen J CJ; Hallan, Stein S; Åsvold, Bjørn Olav BO; Gessner, Andre A; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A; Stark, Klaus J KJ; Heid, Iris M IM; Winkler, Thomas W TW
Publication Date: 2021-07-16
Variant appearance in text: HNF1A: Ala98Val; rs1800574
Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.
Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
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: 293C>T; Ala98Val
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: HNF1A: 293C>T; Ala98Val
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: HNF1A: 293C>T; A98V; rs1800574
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Nature Genetics
Tin, Adrienne A; Marten, Jonathan J; Halperin Kuhns, Victoria L VL; Li, Yong Y; Wuttke, Matthias M; Kirsten, Holger H; Sieber, Karsten B KB; Qiu, Chengxiang C; Gorski, Mathias M; Yu, Zhi Z; Giri, Ayush A; Sveinbjornsson, Gardar G; Li, Man M; Chu, Audrey Y AY; Hoppmann, Anselm A; O'Connor, Luke J LJ; Prins, Bram B; Nutile, Teresa T; Noce, Damia D; Akiyama, Masato M; Cocca, Massimiliano M; Ghasemi, Sahar S; van der Most, Peter J PJ; Horn, Katrin K; Xu, Yizhe Y; Fuchsberger, Christian C; Sedaghat, Sanaz S; Afaq, Saima S; Amin, Najaf N; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Bansal, Nisha N; Baptista, Daniela D; Bergmann, Sven S; Biggs, Mary L ML; Biino, Ginevra G; Boerwinkle, Eric E; Bottinger, Erwin P EP; Boutin, Thibaud S TS; Brumat, Marco M; Burkhardt, Ralph R; Campana, Eric E; Campbell, Archie A; Campbell, Harry H; Carroll, Robert J RJ; Catamo, Eulalia E; Chambers, John C JC; Ciullo, Marina M; Concas, Maria Pina MP; Coresh, Josef J; Corre, Tanguy T; Cusi, Daniele D; Felicita, Sala Cinzia SC; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Delgado, Graciela G; Demirkan, Ayşe A; Devuyst, Olivier O; Dittrich, Katalin K; Eckardt, Kai-Uwe KU; Ehret, Georg G; Endlich, Karlhans K; Evans, Michele K MK; Gansevoort, Ron T RT; Gasparini, Paolo P; Giedraitis, Vilmantas V; Gieger, Christian C; Girotto, Giorgia G; Gögele, Martin M; Gordon, Scott D SD; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; , ; Haller, Toomas T; Hamet, Pavel P; Harris, Tamara B TB; Hayward, Caroline C; Hicks, Andrew A AA; Hofer, Edith E; Holm, Hilma H; Huang, Wei W; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Lewis, Raychel M RM; Ingelsson, Erik E; Jakobsdottir, Johanna J; Jonsdottir, Ingileif I; Jonsson, Helgi H; Joshi, Peter K PK; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Kerr, Shona M SM; Kiess, Wieland W; Kleber, Marcus E ME; Koenig, Wolfgang W; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Krämer, Bernhard K BK; Kronenberg, Florian F; Kubo, Michiaki M; Kühnel, Brigitte B; La Bianca, Martina M; Lange, Leslie A LA; Lehne, Benjamin B; Lehtimäki, Terho T; , ; Liu, Jun J; Loeffler, Markus M; Loos, Ruth J F RJF; Lyytikäinen, Leo-Pekka LP; Magi, Reedik R; Mahajan, Anubha A; Martin, Nicholas G NG; März, Winfried W; Mascalzoni, Deborah D; Matsuda, Koichi K; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Milaneschi, Yuri Y; , ; O'Donnell, Christopher J CJ; Wilson, Otis D OD; Gaziano, J Michael JM; Mishra, Pashupati P PP; Mohlke, Karen L KL; Mononen, Nina N; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Müller-Nurasyid, Martina M; Nadkarni, Girish N GN; Nalls, Mike A MA; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Nolte, Ilja M IM; Noordam, Raymond R; O'Connell, Jeffrey R JR; Olafsson, Isleifur I; Padmanabhan, Sandosh S; Penninx, Brenda W J H BWJH; Perls, Thomas T; Peters, Annette A; Pirastu, Mario M; Pirastu, Nicola N; Pistis, Giorgio G; Polasek, Ozren O; Ponte, Belen B; Porteous, David J DJ; Poulain, Tanja T; Preuss, Michael H MH; Rabelink, Ton J TJ; Raffield, Laura M LM; Raitakari, Olli T OT; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Rizzi, Federica F; Robino, Antonietta A; Rudan, Igor I; Krajcoviechova, Alena A; Cifkova, Renata R; Rueedi, Rico R; Ruggiero, Daniela D; Ryan, Kathleen A KA; Saba, Yasaman Y; Salvi, Erika E; Schmidt, Helena H; Schmidt, Reinhold R; Shaffer, Christian M CM; Smith, Albert V AV; Smith, Blair H BH; Spracklen, Cassandra N CN; Strauch, Konstantin K; Stumvoll, Michael M; Sulem, Patrick P; Tajuddin, Salman M SM; Teren, Andrej A; Thiery, Joachim J; Thio, Chris H L CHL; Thorsteinsdottir, Unnur U; Toniolo, Daniela D; Tönjes, Anke A; Tremblay, Johanne J; Uitterlinden, André G AG; Vaccargiu, Simona S; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Völker, Uwe U; Vollenweider, Peter P; Waeber, Gerard G; Waldenberger, Melanie M; Whitfield, John B JB; Wild, Sarah H SH; Wilson, James F JF; Yang, Qiong Q; Zhang, Weihua W; Zonderman, Alan B AB; Bochud, Murielle M; Wilson, James G JG; Pendergrass, Sarah A SA; Ho, Kevin K; Parsa, Afshin A; Pramstaller, Peter P PP; Psaty, Bruce M BM; Böger, Carsten A CA; Snieder, Harold H; Butterworth, Adam S AS; Okada, Yukinori Y; Edwards, Todd L TL; Stefansson, Kari K; Susztak, Katalin K; Scholz, Markus M; Heid, Iris M IM; Hung, Adriana M AM; Teumer, Alexander A; Pattaro, Cristian C; Woodward, Owen M OM; Vitart, Veronique V; Köttgen, Anna A
Publication Date: 2019-10
Variant appearance in text: HNF1A: Ala98Val; rs1800574
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Hereditary Cancer In Clinical Practice
Buckingham, Lela L; Mitchell, Rachel R; Maienschein-Cline, Mark M; Green, Stefan S; Hu, Vincent Hong VH; Cobleigh, Melody M; Rotmensch, Jacob J; Burgess, Kelly K; Usha, Lydia L
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03
Variant appearance in text: HNF1A: A98V; rs1800574
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: HNF1A: A98V; rs1800574
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: HNF1A: 293C>T; A98V; rs1800574
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
Diabetes
Locke, Jonathan M JM; Saint-Martin, Cécile C; Laver, Thomas W TW; Patel, Kashyap A KA; Wood, Andrew R AR; Sharp, Seth A SA; Ellard, Sian S; Bellanné-Chantelot, Christine C; Hattersley, Andrew T AT; Harries, Lorna W LW; Weedon, Michael N MN
Publication Date: 2018-09
Variant appearance in text: HNF1A: A98V; rs1800574
Maturity onset diabetes of the young due to HNF1A variants in Croatia.
Biochemia Medica
Pavić, Tamara T; Juszczak, Agata A; Pape Medvidović, Edita E; Burrows, Carla C; Šekerija, Mario M; Bennett, Amanda J AJ; Ćuća Knežević, Jadranka J; Gloyn, Anna L AL; Lauc, Gordan G; McCarthy, Mark I MI; Gornik, Olga O; Owen, Katharine R KR
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: HNF1A: 293C>T; Ala98Val; rs1800574
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Bmc Medical Genetics
Mohan, Viswanathan V; Radha, Venkatesan V; Nguyen, Thong T TT; Stawiski, Eric W EW; Pahuja, Kanika Bajaj KB; Goldstein, Leonard D LD; Tom, Jennifer J; Anjana, Ranjit Mohan RM; Kong-Beltran, Monica M; Bhangale, Tushar T; Jahnavi, Suresh S; Chandni, Radhakrishnan R; Gayathri, Vijay V; George, Paul P; Zhang, Na N; Murugan, Sakthivel S; Phalke, Sameer S; Chaudhuri, Subhra S; Gupta, Ravi R; Zhang, Jingli J; Santhosh, Sam S; Stinson, Jeremy J; Modrusan, Zora Z; Ramprasad, V L VL; Seshagiri, Somasekar S; Peterson, Andrew S AS
Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.
The Journal Of Clinical Endocrinology And Metabolism
Billings, Liana K LK; Jablonski, Kathleen A KA; Warner, A Sofia AS; Cheng, Yu-Chien YC; McAteer, Jarred B JB; Tipton, Laura L; Shuldiner, Alan R AR; Ehrmann, David A DA; Manning, Alisa K AK; Dabelea, Dana D; Franks, Paul W PW; Kahn, Steven E SE; Pollin, Toni I TI; Knowler, William C WC; Altshuler, David D; Florez, Jose C JC; ,
Publication Date: 2017-08-01
Variant appearance in text: HNF1A: Ala98Val; rs1800574
Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes.
Molecular Genetics & Genomic Medicine
Magaña-Cerino, Jesús Miguel JM; Luna-Arias, Juan P JP; Labra-Barrios, María Luisa ML; Avendaño-Borromeo, Bartolo B; Boldo-León, Xavier Miguel XM; Martínez-López, Mirian Carolina MC
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Nature Genetics
Gaulton, Kyle J KJ; Ferreira, Teresa T; Lee, Yeji Y; Raimondo, Anne A; Mägi, Reedik R; Reschen, Michael E ME; Mahajan, Anubha A; Locke, Adam A; Rayner, N William NW; Robertson, Neil N; Scott, Robert A RA; Prokopenko, Inga I; Scott, Laura J LJ; Green, Todd T; Sparso, Thomas T; Thuillier, Dorothee D; Yengo, Loic L; Grallert, Harald H; Wahl, Simone S; Frånberg, Mattias M; Strawbridge, Rona J RJ; Kestler, Hans H; Chheda, Himanshu H; Eisele, Lewin L; Gustafsson, Stefan S; Steinthorsdottir, Valgerdur V; Thorleifsson, Gudmar G; Qi, Lu L; Karssen, Lennart C LC; van Leeuwen, Elisabeth M EM; Willems, Sara M SM; Li, Man M; Chen, Han H; Fuchsberger, Christian C; Kwan, Phoenix P; Ma, Clement C; Linderman, Michael M; Lu, Yingchang Y; Thomsen, Soren K SK; Rundle, Jana K JK; Beer, Nicola L NL; van de Bunt, Martijn M; Chalisey, Anil A; Kang, Hyun Min HM; Voight, Benjamin F BF; Abecasis, Gonçalo R GR; Almgren, Peter P; Baldassarre, Damiano D; Balkau, Beverley B; Benediktsson, Rafn R; Blüher, Matthias M; Boeing, Heiner H; Bonnycastle, Lori L LL; Bottinger, Erwin P EP; Burtt, Noël P NP; Carey, Jason J; Charpentier, Guillaume G; Chines, Peter S PS; Cornelis, Marilyn C MC; Couper, David J DJ; Crenshaw, Andrew T AT; van Dam, Rob M RM; Doney, Alex S F AS; Dorkhan, Mozhgan M; Edkins, Sarah S; Eriksson, Johan G JG; Esko, Tonu T; Eury, Elodie E; Fadista, João J; Flannick, Jason J; Fontanillas, Pierre P; Fox, Caroline C; Franks, Paul W PW; Gertow, Karl K; Gieger, Christian C; Gigante, Bruna B; Gottesman, Omri O; Grant, George B GB; Grarup, Niels N; Groves, Christopher J CJ; Hassinen, Maija M; Have, Christian T CT; Herder, Christian C; Holmen, Oddgeir L OL; Hreidarsson, Astradur B AB; Humphries, Steve E SE; Hunter, David J DJ; Jackson, Anne U AU; Jonsson, Anna A; Jørgensen, Marit E ME; Jørgensen, Torben T; Kao, Wen-Hong L WH; Kerrison, Nicola D ND; Kinnunen, Leena L; Klopp, Norman N; Kong, Augustine A; Kovacs, Peter P; Kraft, Peter P; Kravic, Jasmina J; Langford, Cordelia C; Leander, Karin K; Liang, Liming L; Lichtner, Peter P; Lindgren, Cecilia M CM; Lindholm, Eero E; Linneberg, Allan A; Liu, Ching-Ti CT; Lobbens, Stéphane S; Luan, Jian'an J; Lyssenko, Valeriya V; Männistö, Satu S; McLeod, Olga O; Meyer, Julia J; Mihailov, Evelin E; Mirza, Ghazala G; Mühleisen, Thomas W TW; Müller-Nurasyid, Martina M; Navarro, Carmen C; Nöthen, Markus M MM; Oskolkov, Nikolay N NN; Owen, Katharine R KR; Palli, Domenico D; Pechlivanis, Sonali S; Peltonen, Leena L; Perry, John R B JR; Platou, Carl G P CG; Roden, Michael M; Ruderfer, Douglas D; Rybin, Denis D; van der Schouw, Yvonne T YT; Sennblad, Bengt B; Sigurðsson, Gunnar G; Stančáková, Alena A; Steinbach, Gerald G; Storm, Petter P; Strauch, Konstantin K; Stringham, Heather M HM; Sun, Qi Q; Thorand, Barbara B; Tikkanen, Emmi E; Tonjes, Anke A; Trakalo, Joseph J; Tremoli, Elena E; Tuomi, Tiinamaija T; Wennauer, Roman R; Wiltshire, Steven S; Wood, Andrew R AR; Zeggini, Eleftheria E; Dunham, Ian I; Birney, Ewan E; Pasquali, Lorenzo L; Ferrer, Jorge J; Loos, Ruth J F RJ; Dupuis, Josée J; Florez, Jose C JC; Boerwinkle, Eric E; Pankow, James S JS; van Duijn, Cornelia C; Sijbrands, Eric E; Meigs, James B JB; Hu, Frank B FB; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Lakka, Timo A TA; Rauramaa, Rainer R; Stumvoll, Michael M; Pedersen, Nancy L NL; Lind, Lars L; Keinanen-Kiukaanniemi, Sirkka M SM; Korpi-Hyövälti, Eeva E; Saaristo, Timo E TE; Saltevo, Juha J; Kuusisto, Johanna J; Laakso, Markku M; Metspalu, Andres A; Erbel, Raimund R; Jöcke, Karl-Heinz KH; Moebus, Susanne S; Ripatti, Samuli S; Salomaa, Veikko V; Ingelsson, Erik E; Boehm, Bernhard O BO; Bergman, Richard N RN; Collins, Francis S FS; Mohlke, Karen L KL; Koistinen, Heikki H; Tuomilehto, Jaakko J; Hveem, Kristian K; Njølstad, Inger I; Deloukas, Panagiotis P; Donnelly, Peter J PJ; Frayling, Timothy M TM; Hattersley, Andrew T AT; de Faire, Ulf U; Hamsten, Anders A; Illig, Thomas T; Peters, Annette A; Cauchi, Stephane S; Sladek, Rob R; Froguel, Philippe P; Hansen, Torben T; Pedersen, Oluf O; Morris, Andrew D AD; Palmer, Collin N A CN; Kathiresan, Sekar S; Melander, Olle O; Nilsson, Peter M PM; Groop, Leif C LC; Barroso, Inês I; Langenberg, Claudia C; Wareham, Nicholas J NJ; O'Callaghan, Christopher A CA; Gloyn, Anna L AL; Altshuler, David D; Boehnke, Michael M; Teslovich, Tanya M TM; McCarthy, Mark I MI; Morris, Andrew P AP; ,
Publication Date: 2015-12
Variant appearance in text: HNF1A: A98V; rs1800574
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: HNF1A: 293C>T; A98V; rs1800574
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: HNF1A: A98V; rs1800574
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: HNF1A: A98V; rs1800574
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: HNF1A: A98V; rs1800574
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04
Variant appearance in text: HNF1A: A98V; rs1800574
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Nature Genetics
Flannick, Jason J; Beer, Nicola L NL; Bick, Alexander G AG; Agarwala, Vineeta V; Molnes, Janne J; Gupta, Namrata N; Burtt, Noël P NP; Florez, Jose C JC; Meigs, James B JB; Taylor, Herman H; Lyssenko, Valeriya V; Irgens, Henrik H; Fox, Ervin E; Burslem, Frank F; Johansson, Stefan S; Brosnan, M Julia MJ; Trimmer, Jeff K JK; Newton-Cheh, Christopher C; Tuomi, Tiinamaija T; Molven, Anders A; Wilson, James G JG; O'Donnell, Christopher J CJ; Kathiresan, Sekar S; Hirschhorn, Joel N JN; Njølstad, Pål R PR; Rolph, Tim T; Seidman, J G JG; Gabriel, Stacey S; Cox, David R DR; Seidman, Christine E CE; Groop, Leif L; Altshuler, David D
Publication Date: 2013-11
Variant appearance in text: HNF1A: 293C>T; Ala98Val
Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil.
Genetics And Molecular Biology
Bonatto, Naieli N; Nogaroto, Viviane V; Svidnicki, Paulo V PV; Milléo, Fábio Q FQ; Grassiolli, Sabrina S; Almeida, Mara C MC; Vicari, Marcelo R MR; Artoni, Roberto F RF