Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

od Laitinen, Eeva-Maria, Tommiska, Johanna, Sane, Timo, Vaaralahti, Kirsi, Toppari, Jorma, Raivio, Taneli
Wydane 2012

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty

od Tommiska, Johanna, Sørensen, Kaspar, Aksglaede, Lise, Koivu, Rosanna, Puhakka, Lea, Juul, Anders, Raivio, Taneli
Wydane 2011

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

od Laitinen, Eeva-Maria, Vaaralahti, Kirsi, Tommiska, Johanna, Eklund, Elina, Tervaniemi, Mari, Valanne, Leena, Raivio, Taneli
Wydane 2011

Variants on the promoter region of PTEN affect breast cancer progression and patient survival

od Heikkinen, Tuomas, Greco, Dario, Pelttari, Liisa M, Tommiska, Johanna, Vahteristo, Pia, Heikkilä, Päivi, Blomqvist, Carl, Aittomäki, Kristiina, Nevanlinna, Heli
Wydane 2011

The combined status of ATM and p53 link tumor development with therapeutic response

od Jiang, Hai, Reinhardt, H. Christian, Bartkova, Jirina, Tommiska, Johanna, Blomqvist, Carl, Nevanlinna, Heli, Bartek, Jiri, Yaffe, Michael B., Hemann, Michael T.
Wydane 2009

ATM variants and cancer risk in breast cancer patients from Southern Finland

od Tommiska, Johanna, Jansen, Laila, Kilpivaara, Outi, Edvardsen, Hege, Kristensen, Vessela, Tamminen, Anitta, Aittomäki, Kristiina, Blomqvist, Carl, Børresen-Dale, Anne-Lise, Nevanlinna, Heli
Wydane 2006

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

od Känsäkoski, Johanna, Jääskeläinen, Jarmo, Jääskeläinen, Tiina, Tommiska, Johanna, Saarinen, Lilli, Lehtonen, Rainer, Hautaniemi, Sampsa, Frilander, Mikko J., Palvimo, Jorma J., Toppari, Jorma, Raivio, Taneli
Wydane w Sci Rep (2016)

Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer‐predisposing gene

od Bartkova, Jirina, Tommiska, Johanna, Oplustilova, Lenka, Aaltonen, Kirsimari, Tamminen, Anitta, Heikkinen, Tuomas, Mistrik, Martin, Aittomäki, Kristiina, Blomqvist, Carl, Heikkilä, Päivi, Lukas, Jiri, Nevanlinna, Heli, Bartek, Jiri
Wydane w Mol Oncol (2008)

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

od Götz, Alexandra, Tyynismaa, Henna, Euro, Liliya, Ellonen, Pekka, Hyötyläinen, Tuulia, Ojala, Tiina, Hämäläinen, Riikka H., Tommiska, Johanna, Raivio, Taneli, Oresic, Matej, Karikoski, Riitta, Tammela, Outi, Simola, Kalle O.J., Paetau, Anders, Tyni, Tiina, Suomalainen, Anu
Wydane 2011

Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients

od Schmidt, Marjanka K, Tommiska, Johanna, Broeks, Annegien, van Leeuwen, Flora E, Van't Veer, Laura J, Pharoah, Paul DP, Easton, Douglas F, Shah, Mitul, Humphreys, Manjeet, Dörk, Thilo, Reincke, Scarlett A, Fagerholm, Rainer, Blomqvist, Carl, Nevanlinna, Heli
Wydane 2009

An Information-Theoretic Analysis of Genetics, Gender and Age in Cancer Patients

od Atwal, Gurinder Singh, Rabadán, Raúl, Lozano, Guillermina, Strong, Louise C., Ruijs, Mariëlle W. G., Schmidt, Marjanka K., van't Veer, Laura J., Nevanlinna, Heli, Tommiska, Johanna, Aittomäki, Kristiina, Bougeard, Gaelle, Frebourg, Thierry, Levine, Arnold J., Bond, Gareth L.
Wydane 2008

53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

od Bouwman, Peter, Aly, Amal, Escandell, Jose M., Pieterse, Mark, Bartkova, Jirina, van der Gulden, Hanneke, Hiddingh, Sanne, Thanasoula, Maria, Kulkarni, Atul, Yang, Qifeng, Haffty, Bruce G., Tommiska, Johanna, Blomqvist, Carl, Drapkin, Ronny, Adams, David J., Nevanlinna, Heli, Bartek, Jiri, Tarsounas, Madalena, Ganesan, Shridar, Jonkers, Jos
Wydane 2010

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

od Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppälä, Eija H., Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytölä, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenperä, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha
Wydane w BMC Cardiovasc Disord (2021)

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

od Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, James, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly
Wydane w Am J Hum Genet (2020)

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

od Koskenvuo, Juha W., Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppälä, Eija H., Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Heliö, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H., Vepsäläinen, Ville, Kytölä, Ville, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Wydane w PLoS One (2021)

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

od Raivio, Taneli, Avbelj, Magdalena, McCabe, Mark J., Romero, Christopher J., Dwyer, Andrew A., Tommiska, Johanna, Sykiotis, Gerasimos P., Gregory, Louise C., Diaczok, Daniel, Tziaferi, Vaitsa, Elting, Mariet W., Padidela, Raja, Plummer, Lacey, Martin, Cecilia, Feng, Bihua, Zhang, Chengkang, Zhou, Qun-Yong, Chen, Huaibin, Mohammadi, Moosa, Quinton, Richard, Sidis, Yisrael, Radovick, Sally, Dattani, Mehul T., Pitteloud, Nelly
Wydane 2012

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

od Villanueva, Carine, Jacobson-Dickman, Elka, Xu, Cheng, Manouvrier, Sylvie, Dwyer, Andrew A., Sykiotis, Gerasimos P., Beenken, Andrew, Liu, Yang, Tommiska, Johanna, Hu, Youli, Tiosano, Dov, Gerard, Marion, Leger, Juliane, Drouin-Garraud, Valérie, Lefebvre, Hervé, Polak, Michel, Carel, Jean-Claude, Phan-Hug, Franziska, Hauschild, Michael, Plummer, Lacey, Rey, Jean-Pierre, Raivio, Taneli, Bouloux, Pierre, Sidis, Yisrael, Mohammadi, Moosa, de Roux, Nicolas, Pitteloud, Nelly
Wydane w Genet Med (2014)

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

od Tommiska, Johanna, Känsäkoski, Johanna, Skibsbye, Lasse, Vaaralahti, Kirsi, Liu, Xiaonan, Lodge, Emily J., Tang, Chuyi, Yuan, Lei, Fagerholm, Rainer, Kanters, Jørgen K., Lahermo, Päivi, Kaunisto, Mari, Keski-Filppula, Riikka, Vuoristo, Sanna, Pulli, Kristiina, Ebeling, Tapani, Valanne, Leena, Sankila, Eeva-Marja, Kivirikko, Sirpa, Lääperi, Mitja, Casoni, Filippo, Giacobini, Paolo, Phan-Hug, Franziska, Buki, Tal, Tena-Sempere, Manuel, Pitteloud, Nelly, Veijola, Riitta, Lipsanen-Nyman, Marita, Kaunisto, Kari, Mollard, Patrice, Andoniadou, Cynthia L., Hirsch, Joel A., Varjosalo, Markku, Jespersen, Thomas, Raivio, Taneli
Wydane w Nat Commun (2017)

AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A CIMBA study

od Couch, Fergus J., Sinilnikova, Olga, Vierkant, Robert A, Pankratz, V. Shane, Fredericksen, Zachary S., Stoppa-Lyonnet, Dominique, Coupier, Isabelle, Hughes, David, Hardouin, Agnès, Berthet, Pascaline, Peock, Susan, Cook, Margaret, Baynes, Caroline, Hodgson, Shirley, Morrison, Patrick J., Porteous, Mary E., Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Spurdle, Amanda B., Schmutzler, Rita, Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Sutter, Christian, Horst, Jurgen, Schaefer, Dieter, Offit, Kenneth, Kirchhoff, Tomas, Andrulis, Irene L., Ilyushik, Eduard, Glendon, Gordon, Devilee, Peter, Vreeswijk, Maaike P.G., Vasen, Hans F.A., Borg, Ake, Backenhorn, Katja, Struewing, Jeffery P., Greene, Mark H., Neuhausen, Susan L., Rebbeck, Timothy R., Nathanson, Katherine, Domchek, Susan, Wagner, Theresa, Garber, Judy E., Szabo, Csilla, Zikan, Michal, Foretova, Lenka, Olson, Janet E., Sellers, Thomas A., Lindor, Noralane, Nevanlinna, Heli, Tommiska, Johanna, Aittomaki, Kristiina, Hamann, Ute, Rashid, Muhammad U., Torres, Diana, Simard, Jacques, Durocher, Francine, Guenard, Frederic, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Olopade, Olufunmilayo I., Narod, Steven, Daly, Mary B., Godwin, Andrew K., Tomlinson, Gail, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniouon, Antonis C.
Wydane 2007