Johanna Schleutker profile picture
Johanna
Schleutker
Professor, Institute of Biomedicine
PhD, Professor of Medical Genetics

Contact

+358 29 450 2726
+358 50 443 7237
Kiinamyllynkatu 10
20520
Turku

Areas of expertise

Cancer genetics
hereditary cancer
genomics
human genetics

Biography

Johanna Schleutker got her PhD in 1995 in University of Turku, Faculty of Medicine.The topic of her doctoral thesis was "Linkage disequilibrium is Salla disease; positioning of the sialic acid transport defect". She then moved to University of Tampere, and did her post doc in 1996-1998 in the Cancer Genetics research group of Professor Olli Kallioniemi. Her career continued in the US where she spent the years of 1999-2000 working as a research associate at the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. During the NIH years, she studied genetics of familial prostate cancer in the group of Dr. Jeffrey M.Trent. After her return to Finland, Schleutker started her own research group in 2001 at the Insitute of Medical Technology, University of Tampere, and has ever since focused her studies on genetics and genetic susceptibility of prostate and breast cancer. Schleutker got a professorship in University of Tampere in 2008. In 2011 she started as a professor of medical genetics in University of Turku.

Teaching

Genetics, cancer genetics, hereditary cancer, genomics, molecular biology.

Research

The Schleutker group "Genetic Predisposition to Cancer" is studying both breast and prostate cancer genetics, the main emphasis being on prostate cancer. Of all cancers, prostate cancer (PrCa) has been reported as one of the most heritable diseases: genetic factors have been estimated to account for 57% of the risk. The goal is to identify and characterize predisposing genes and variants, especially those affecting aggressive outcome, including treatment responses to therapies. Further, the aim is to develop tools for prognostic purposes, i.e. prognostic biomarkers. The group has identified many significant genomic risk regions, candidate genes and variants, which have been then further profiled and characterized by functional studies. The group has produced (by 2021) 12 PhD degrees and published over 190 original, peer-reviewed articles in international journals.

Publications

Sort by:

Assessing the causal role of epigenetic clocks in the development of multiple cancers: a Mendelian randomization study (2022)

eLife
Morales Berstein Fernanda, McCartney Daniel L, Lu Ake T, Tsilidis Konstantintus K, Bouras Emmanouil, Haycock Philip, Burrows Kimberley, Phipps Amanda I, Buchanan Dnaiel D, Cheng Iona; PRACTICAL consortium, Martin Richardo M, Davey Smith George, Relton Caroline L, Horvath Steve, Marioni Riccardo E, Richardson Tom G, Richmond Rebecca C
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022)

Nature Genetics
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, Lee SJ, Costa MR, Kuulasmaa T, Yang Q, Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen H, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues J, Deyn PP, Paiva Lopes K, Witte LD, Debette S, Deckert J, Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JM, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Pérez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee C, Lehtisalo J, Lerch O, Lleó A, Longstreth W, Lopez O, Munain AL, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AM, Rodríguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Sáez ME, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tárraga L, Tesí N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjærg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Broeckhoven CV, Vance J, Vardarajan BN, Lugt A, Dongen JV, Rooij J, Swieten J, Vandenberghe R, Verhey F, Vidal J, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, Wang L, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Laczo J, Matoska V, Serpente M, Assogna F, Piras F, Piras F, Ciullo V, Shofany J, Ferrarese C, Andreoni S, Sala G, Zoia CP, Zompo MD, Benussi A, Bastiani P, Takalo M, Natunen T, Laatikainen T, Tuomilehto J, Antikainen R, Strandberg T, Lindström J, Peltonen M, Abraham R, Al-Chalabi A, Bass NJ, Brayne C, Brown KS, Collinge J, Craig D, Deloukas P, Fox N, Gerrish A, Gill M, Gwilliam R, Harold D, Hollingworth P, Johnston JA, Jones L, Lawlor B, Livingston G, Lovestone S, Lupton M, Lynch A, Mann D, McGuinness B, McQuillin A, O’Donovan MC, Owen MJ, Passmore P, Powell JF, Proitsi P, Rossor M, Shaw CE, Smith AD, Gurling H, Todd S, Mummery C, Ryan N, Lacidogna G, Adarmes-Gómez A, Mauleón A, Pancho A, Gailhajenet A, Lafuente A, Macias-García D, Martín E, Pelejà E, Carrillo F, Merlín IS, Garrote-Espina L, Vargas L, Carrion-Claro M, Marín M, Labrador M, Buendia M, Alonso MD, Guitart M, Moreno M, Ibarria M, Periñán M, Aguilera N, Gómez-Garre P, Cañabate P, Escuela R, Pineda-Sánchez R, Vigo-Ortega R, Jesús S, Preckler S, Rodrigo-Herrero S, Diego S, Vacca A, Roveta F, Salvadori N, Chipi E, Boecker H, Laske C, Perneczky R, Anastasiou C, Janowitz D, Malik R, Anastasiou A, Parveen K, López-García S, Antonell A, Mihova KY, Belezhanska D, Weber H, Kochen S, Solis P, Medel N, Lisso J, Sevillano Z, Politis DG, Cores V, Cuesta C, Ortiz C, Bacha JI, Rios M, Saenz A, Abalos MS, Kohler E, Palacio DL, Etchepareborda I, Kohler M, Novack G, Prestia FA, Galeano P, Castaño EM, Germani S, Toso CR, Rojo M, Ingino C, Mangone C, Rubinsztein DC, Teipel S, Fievet N, Deramerourt V, Forsell C, Thonberg H, Bjerke M, Roeck ED, Martínez-Larrad MT, Olivar N, Cano A, Maroñas O, Nuñez-Llaves R, Olivé C, Adarmes-Gómez AD, Alonso MD, Amer-Ferrer G, Antequera M, Burguera JA, Casajeros MJ, Pancorbo M, Hevilla S, Espinosa MAL, Legaz A, Manzanares S, Marín M, Marín-Muñoz J, Marín T, Martínez B, Martínez V, Martínez-Lage Álvarez P, Iriarte MM, Periñán-Tocino MT, Pineda-Sánchez R, Asúa D, Rodrigo S, Sastre I, Vicente MP, Vivancos L, Epelbaum J, Hannequin D, campion D, Deramecourt V, Tzourio C, Brice A, Dubois B, Williams A, Thomas C, Davies C, Nash W, Dowzell K, Morales AC, Bernardo-Harrington M, Turton J, Lord J, Brown K, Vardy E, Fisher E, Warren JD, Rossor M, Ryan NS, Guerreiro R, Uphill J, Bass N, Heun R, Kölsch H, Schürmann B, Lacour A, Herold C, Johnston JA, Powell J, Patel Y, Hodges A, Becker T, Warden D, Wilcock G, Clarke R, Deloukas P, Ben-Shlomo Y, Hooper NM, Pickering-Brown S, Sussams R, Warner N, Bayer A, Heuser I, Drichel D, Klopp N, Mayhaus M, Riemenschneider M, Pinchler S, Feulner T, Gu W, Bussche H, Hüll M, Frölich L, Wichmann H, Jöckel K, Owen M, Bahrami S, Bosnes I, Selnes P, Bergh S, Palotie A, Daly M, Jacob H, Matakidou A, Runz H, John S, Plenge R, McCarthy M, Hunkapiller J, Ehm M, Waterworth D, Fox C, Malarstig A, Klinger K, Call K, Behrens T, Loerch P, Mäkelä T, Kaprio J, Virolainen P, Pulkki K, Kilpi T, Perola M, Partanen J, Pitkäranta A, Kaarteenaho R, Vainio S, Turpeinen M, Serpi R, Laitinen T, Mäkelä J, Kosma V, Kujala U, Tuovila O, Hendolin M, Pakkanen R, Waring J, Riley-Gillis B, Liu J, Biswas S, Diogo D, Marshall C, Hu X, Gossel M, Graham R, Cummings B, Ripatti S, Schleutker J, Arvas M, Carpén O, Hinttala R, Kettunen J, Mannermaa A, Laukkanen J, Julkunen V, Remes A, Kälviäinen R, Peltola J, Tienari P, Rinne J, Ziemann A, Esmaeeli S, Smaoui N, Lehtonen A, Eaton S, Lahdenperä S, Adelsberg J, Michon J, Kerchner G, Bowers N, Teng E, Eicher J, Mehta V, Gormley P, Linden K, Whelan C, Xu F, Pulford D, Färkkilä M, Pikkarainen S, Jussila A, Blomster T, Kiviniemi M, Voutilainen M, Georgantas B, Heap G, Rahimov F, Usiskin K, Lu T, Oh D, Kalpala K, Miller M, McCarthy L, Eklund K, Palomäki A, Isomäki P, Pirilä L, Kaipiainen-Seppänen O, Huhtakangas J, Lertratanakul A, Hochfeld M, Bing N, Gordillo JE, Mars N, Pelkonen M, Kauppi P, Kankaanranta H, Harju T, Close D, Greenberg S, Chen H, Betts J, Ghosh S, Salomaa V, Niiranen T, Juonala M, Metsärinne K, Kähönen M, Junttila J, Laakso M, Pihlajamäki J, Sinisalo J, Taskinen M, Tuomi T, Challis B, Peterson A, Chu A, Parkkinen J, Muslin A, Joensuu H, Meretoja T, Aaltonen L, Mattson J, Auranen A, Karihtala P, Kauppila S, Auvinen P, Elenius K, Popovic R, Schutzman J, Loboda A, Chhibber A, Lehtonen H, McDonough S, Crohns M, Kulkarni D, Kaarniranta K, Turunen JA, Ollila T, Seitsonen S, Uusitalo H, Aaltonen V, Uusitalo-Järvinen H, Luodonpää M, Hautala N, Loomis S, Strauss E, Chen H, Podgornaia A, Hoffman J, Tasanen K, Huilaja L, Hannula-Jouppi K, Salmi T, Peltonen S, Koulu L, Harvima I, Wu Y, Choy D, Pussinen P, Salminen A, Salo T, Rice D, Nieminen P, Palotie U, Siponen M, Suominen L, Mäntylä P, Gursoy U, Anttonen V, Sipilä K, Davis JW, Quarless D, Petrovski S, Wigmore E, Chen C, Bronson P, Tsai E, Huang Y, Maranville J, Shaikho E, Mohammed E, Wadhawan S, Kvikstad E, Caliskan M, Chang D, Bhangale T, Pendergrass S, Holzinger E, Chen X, Hedman Å, King KS, Wang C, Xu E, Auge F, Chatelain C, Rajpal D, Liu D, Xia T, Brauer M, Kurki M, Karjalainen J, Havulinna A, Jalanko A, Palta P, Briotta Parolo P, Zhou W, Lemmelä S, Rivas M, Harju J, Lehisto A, Ganna A, Llorens V, Laivuori H, Rüeger S, Niemi ME, Tukiainen T, Reeve MP, Heyne H, Palin K, Garcia-Tabuenca J, Siirtola H, Kiiskinen T, Lee J, Tsuo K, Elliott A, Kristiansson K, Hyvärinen K, Ritari J, Koskinen M, Pylkäs K, Kalaoja M, Karjalainen M, Mantere T, Kangasniemi E, Heikkinen S, Laakkonen E, Sipeky C, Heron S, Karlsson A, Jambulingam D, Rathinakannan VS, Kajanne R, Aavikko M, Jiménez MG, Briotta Parola P, Kanai M, Kaunisto M, Kilpeläinen E, Sipilä TP, Brein G, Awaisa G, Shcherban A, Donner K, Loukola A, Laiho P, Sistonen T, Kaiharju E, Laukkanen M, Järvensivu E, Lähteenmäki S, Männikkö L, Wong R, Mattsson H, Hiekkalinna T, Paajanen T, Pärn K, Gracia-Tabuenca J, Abner E, Adams PM, Aguirre A, Albert MS, Albin RL, Allen M, Alvarez L, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Ayres G, Baldwin CT, Barber RC, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Below JE, Benitez BA, Bennett D, Bertelson J, Margaret FE, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Brewer J, Burke JR, Burns JM, Bush WS, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Chasse S, Chesselet M, Chesi A, Chin NA, Chui HC, Craft S, Crane PK, Cribbs DH, Crocco EA, Cruchaga C, Cullum M, Darby E, Davis B, De Jager PL, DeCarli C, DeToledo J, Dick M, Dickson DW, Dombroski BA, Doody RS, Duara R, Ertekin-Taner N, Evans DA, Fairchild TJ, Fallon KB, Farlow MR, Farrell JJ, Fernandez-Hernandez V, Ferris S, Frosch MP, Galasko DR, Gamboa A, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Grabowski TJ, Graff-Radford NR, Grant SFA, Green RC, Growdon JH, Haines JL, Hakonarson H, Hall J, Hamilton RL, Harari O, Harrell LE, Haut J, Head E, Henderson VW, Hernandez M, Hohman T, Honig LS, Huebinger RM, Huentelman MJ, Hulette CM, Hyman BT, Hynan LS, Ibanez L, Jarvik GP, Jayadev S, Jin L, Johnson K, Johnson L, Kamboh MI, Karydas AM, Katz MJ, Kaye JA, Keene CD, Khaleeq A, Kim R, Knebl J, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Larson EB, Lee C, Lee EB, Lerner A, Leung YY, Leverenz JB, Levey AI, Li M, Lieberman AP, Lipton RB, Logue M, Lyketsos CG, Malamon J, Mains D, Marson DC, Martiniuk F, Mash DC, Masliah E, Massman P, Masurkar A, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Mez J, Miller BL, Miller CA, Miller JW, Montine TJ, Monuki ES, Morris JC, Myers AJ, Nguyen T, O’Bryant S, Olichney JM, Ory M, Palmer R, Parisi JE, Paulson HL, Pavlik V, Paydarfar D, Perez V, Peskind E, Petersen RC, Pierce A, Polk M, Poon WW, Potter H, Qu L, Quiceno M, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reisch JS, Ringman JM, Roberson ED, Rodriguear M, Rogaeva E, Rosen HJ, Rosenberg RN, Royall DR, Sager MA, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Slifer SH, Small S, Smith AG, Smith JP, Song YE, Sonnen JA, Spina S, George-Hyslop PS, Stern RA, Stevens AB, Strittmatter SM, Sultzer D, Swerdlow RH, Tanzi RE, Tilson JL, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Eldik LJ, Vassar R, Vinters HV, Vonsattel J, Weintraub S, Welsh-Bohmer KA, Whitehead PL, Wijsman EM, Wilhelmsen KC, Williams B, Williamson J, Wilms H, Wingo TS, Wisniewski T, Woltjer RL, Woon M, Wright CB, Wu C, Younkin SG, Yu C, Yu L, Zhang Y, Zhao Y, Zhu X, Adams H, Akinyemi RO, Ali M, Aparicio HJ, Bahadori M, Becker JT, Breteler M, Chasman D, Chauhan G, Comic H, Cox S, Cupples AL, Davies G, DeCarli CS, Duperron M, Dupuis J, Evans T, Fan F, Fitzpatrick A, Fohner AE, Ganguli M, Geerlings M, Glatt SJ, Gonzalez HM, Goss M, Grabe H, Habes M, Heckbert SR, Hofer E, Hong E, Hughes T, Kautz TF, Knol M, Kremen W, Lacaze P, Lahti J, Grand QL, Litkowski E, Li S, Liu D, Liu X, Loitfelder M, Manning A, Maillard P, Marioni R, Mazoyer B, Lent DM, Mei H, Mishra A, Nyquist P, O’Connell J, Patel Y, Paus T, Pausova Z, Raikkonen-Talvitie K, Riaz M, Rich S, Rotter J, Romero J, Roshchupkin G, Saba Y, Sargurupremraj M, Schmidt H, Schmidt R, Shulman JM, Smith J, Sekhar H, Rajula R, Shin J, Simino J, Sliz E, Teumer A, Thomas A, Tin A, Tucker-Drob E, Vojinovic D, Wang Y, Weinstein G, Williams D, Wittfeld K, Yanek L, Yang Y, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, Ikram MA, Mendonça A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze J, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, Duijn CM, Sims R, Flier WM, Ruiz A, Ramirez A, Lambert J
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score (2022)

Prostate Cancer and Prostatic Diseases
Huynh-Le MP, Karunamuni R, Fan CC, Asona L, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir KR, Lophatananon A, Schleutker J, Pashayan N, Batra J, Gronberg H, Neal DE, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A, Albanes D, Haiman CA, Travis RC, Blot WJ, Stanford JL, Mucci LA, West CML, Nielsen SF, Kibel AS, Cussenot O, Berndt SI, Koutros S, Sorensen KD, Cybulski C, Grindedal EM, Menegaux F, Park JY, Ingles SA, Maier C, Hamilton RJ, Rosenstein BS, Lu YJ, Watya S, Vega A, Kogevinas M, Wiklund F, Penney KL, Huff CD, Teixeira MR, Multigner L, Leach RJ, Brenner H, John EM, Kaneva R, Logothetis CJ, Neuhausen SL, De Ruyck K, Ost P, Razack A, Newcomb LF, Fowke JH, Gamulin M, Abraham A, Claessens F, Castelao JE, Townsend PA, Crawford DC, Petrovics G, van Schaik RHN, Parent ME, Hu JJ, Zheng W, Mills IG, Andreassen OA, Dale AM, Seibert TM
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants (2021)

Journal of Molecular Diagnostics
Milligan John N, Larson Jessica L, Filipovic-Sadic Stella, Laosinchai-Wolf Walairat, Huang Ya-Wen, Ko Tsang-Ming, Abbott Kristin M, Lemmink Henny H, Toivonen Minna, Schleutker Johanna, Gentile Caren, Van Deerlin Vivianna M, Zhu Huiping, Latham Gary J
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries (2021)

Nature Communications
Gharahkhani Puya, Jorgenson Eric, Hysi Pirro, Khawaja Anthony P., Pendergrass Sarah, Han Xikun, Ong Jue Sheng, Hewitt Alex W., Segrè Ayellet V., Rouhana John M., Hamel Andrew R., Igo Jr Robert P., Choquet Helene, Qassim Ayub, Josyula Navya S., Bailey Jessica N. Cooke, Bonnemaijer Pieter W. M., Iglesias Adriana, Siggs Owen M., Young Terri L., Vitart Veronique, Thiadens Alberta A. H. J., Karjalainen Juha, Uebe Steffen, Melles Ronald B., Nair K. Saidas, Luben Robert, Simcoe Mark, Amersinghe Nishani, Cree Angela J., Hohn Rene, Poplawski Alicia, Chen Li Jia, Rong Shi-Song, Aung Tin, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya Gen, Shiga Yukihiro, Yamamoto Masayuki, Nakazawa Toru, Currant Hannah, Birney Ewan, Wang Xin, Auton Adam, Lupton Michelle K., Martin Nicholas G., Ashaye Adeyinka, Olawoye Olusola, Williams Susan E., Akafo Stephen, Ramsay Michele, Hashimoto Kazuki, Kamatani Yoichiro, Akiyama Masato, Momozawa Yukihide, Foster Paul J., Khaw Peng T., Morgan James E., Strouthidis Nicholas G., Kraft Peter, Kang Jae H., Pang Chi Pui, Pasutto Francesca, Mitchell Paul, Lotery Andrew J., Palotie Aarno, van Duijn Cornelia, Haines Jonathan L., Hammond Chris, Pasquale Louis R., Klaver Caroline C. W., Hauser Michael, Khor Chiea Chuen, Mackey David A., Kubo Michiaki, Cheng Ching-Yu, Craig Jamie E., MacGregor Stuart, Wiggs Janey L.; FinnGen Study
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

KLK3 SNP-SNP interactions for prediction of prostate cancer aggressiveness (2021)

Scientific Reports
Lin Hui-Yi, Huang Po-Yu, Cheng Chia-Ho, Tung Heng-Yuan, Fang Zhide, Berglund Anders E., Chen Ann, French-Kwawu Jennifer, Harris Darian, Pow-Sang Julio, Yamoah Kosj, Cleveland John L., Awasthi Shivanshu, Rounbehler Robert J., Gerke Travis, Dhillon Jasreman, Eeles Rosalind, Kote-Jarai Zsofia, Muir Kenneth, Schleutker Johanna, Pashayan Nora, Neal David E., Nielsen Sune F., Nordestgaard Børge G., Gronberg Henrik, Wiklund Fredrik, Giles Graham G., Haiman Christopher A., Travis Ruth C., Stanford Janet L., Kibel Adam S., Cybulski Cezary, Khaw Kay-Tee, Maier Christiane, Thibodeau Stephen N., Teixeira Manuel R., Cannon-Albright Lisa, Brenner Hermann, Kaneva Radka, Pandha Hardev, Srinivasan Srilakshmi, Clements Judith, Batra Jyotsna, Park Jong Y.; UKGPCS collaborators; APCB(Australian Prostate Cancer BioResource); The PRACTICAL consortium
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer (2021)

Prostate Cancer and Prostatic Diseases
Karunamuni Roshan A., Huynh-Le Minh-Phuong, Fan Chun C., Thompson Wesley, Eeles Rosalind A., Kote-Jarai Zsofia, Muir Kenneth, Lophatananon Artitaya, Schleutker Johanna, Pashayan Nora, Batra Jyotsna, Grönberg Henrik, Walsh Eleanor I., Turner Emma L., Lane Athene, Martin Richard M., Neal David E., Donovan Jenny L., Hamdy Freddie C., Nordestgaard Børge G., Tangen Catherine M., MacInnis Robert J., Wolk Alicja, Albanes Demetrius, Haiman Christopher A., Travis Ruth C., Stanford Janet L., Mucci Lorelei A., West Catharine M. L., Nielsen Sune F., Kibel Adam S., Wiklund Fredrik, Cussenot Olivier, Berndt Sonja I., Koutros Stella, Sørensen Karina Dalsgaard, Cybulski Cezary, Grindedal Eli Marie, Park Jong Y., Ingles Sue A., Maier Christiane, Hamilton Robert J., Rosenstein Barry S., Vega Ana, Kogevinas Manolis, Penney Kathryn L., Teixeira Manuel R., Brenner Hermann, John Esther M., Kaneva Radka, Logothetis Christopher J., Neuhausen Susan L., Razack Azad, Newcomb Lisa F., Gamulin Marija, Usmani Nawaid, Claessens Frank, Gago-Dominguez Manuela, Townsend Paul A., Roobol Monique J., Zheng Wei, Mills Ian G., Andreassen Ole A., Dale Anders M., Seibert Tyler M.; collaborators UKGPCS; APCB BioResource (Australian Prostate Cancer BioResource); The IMPACT Study Steering Committee and Collaborators; Canary PASS Investigators; The Profile Study Steering Committee; The PRACTICAL Consortium
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

BioCPR–A Tool for Correlation Plots (2021)

Data
Fey Vidal, Jambulingam Dhanaprakash, Sara Henri, Heron Samuel, Sipeky Csilla, Schleutker Johanna
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice (2021)

Scientific Reports
Messerschmidt Clemens, Foddis Marco, Blumenau Sonja, Müller Susanne, Bentele Kajetan, Holtgrewe Manuel, Kun-Rodrigues Celia, Alonso Isabel, Macario Maria do Carmo, Morgadinho Ana Sofia, Velon Ana Graça, Santo Gustavo, Santana Isabel, Mönkäre Saana, Kuuluvainen Liina, Schleutker Johanna, Pöyhönen Minna, Myllykangas Liisa, Senatore Assunta, Berchtold Daniel, Winek Katarzyna, Meisel Andreas, Pavlovic Aleksandra, Kostic Vladimir, Dobricic Valerija, Lohmann Ebba, Hanagasi Hasmet, Guven Gamze, Bilgic Basar, Bras Jose, Guerreiro Rita, Beule Dieter, Dirnagl Ulrich, Sassi Celeste
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))