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341 results on '"Volk, Alexander E."'

1. The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Author

Hinić, Snežana, Cybulski, Cezary, Van der Post, Rachel S., Vos, Janet R., Schuurs-Hoeijmakers, Janneke, Brugnoletti, Fulvia, Koene, Saskia, Vreede, Lilian, van Zelst-Stams, Wendy A.G., Kets, C. Marleen, Haadsma, Maaike, Spruijt, Liesbeth, Wevers, Marijke R., Evans, D. Gareth, Wimmer, Katharina, Schnaiter, Simon, Volk, Alexander E., Möllring, Anna, de Putter, Robin, Soikkonen, Leila, Kahre, Tiina, Tooming, Mikk, de Jong, Mirjam M., Vaz, Fátima, Mensenkamp, Arjen R., Genuardi, Maurizio, Lubinski, Jan, Ligtenberg, Marjolijn, Hoogerbrugge, Nicoline, and de Voer, Richarda M.

Published
2024
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2. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Author

Postma, Alex V., Rapp, Christina K., Knoflach, Katrin, Volk, Alexander E., Lemke, Johannes R., Ackermann, Maximilian, Regamey, Nicolas, Latzin, Philipp, Celant, Lucas, Jansen, Samara M.A., Bogaard, Harm J., Ilgun, Aho, Alders, Mariëlle, van Spaendonck-Zwarts, Karin Y., Jonigk, Danny, Klein, Christoph, Gräf, Stefan, Kubisch, Christian, Houweling, Arjan C., and Griese, Matthias

Published
2023
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4. Clinico-genetic findings in 509 frontotemporal dementia patients

Author

Wagner, Matias, Lorenz, Georg, Volk, Alexander E., Brunet, Theresa, Edbauer, Dieter, Berutti, Riccardo, Zhao, Chen, Anderl-Straub, Sarah, Bertram, Lars, Danek, Adrian, Deschauer, Marcus, Dill, Veronika, Fassbender, Klaus, Fliessbach, Klaus, Götze, Katharina S., Jahn, Holger, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Obrig, Hellmuth, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L., Uttner, Ingo, Vukovich, Ruth, Wiltfang, Jens, Winkler, Andrea S., Zhou, Qihui, Ludolph, Albert C., Oexle, Konrad, Otto, Markus, Diehl-Schmid, Janine, and Winkelmann, Juliane

Published
2021
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8. A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.

Author

Papingi, Dzhoy, Bierhals, Tatjana, Volk, Alexander E., Kutsche, Michael, Paul, Kevin, and Herget, Theresia

Abstract

Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra‐rare autosomal recessive condition with only few patients published to date. BRENS syndrome is characterized by hexadactyly, severe neonatal cholestasis, and involvement of the brain, heart, and kidney, however the full phenotypic and genotypic spectrum is unknown. Here, we report on a previously undescribed homozygous intronic TTC26 variant (c.1006‐5 T > C) in a patient showing some of the known TTC26‐associated features like hexadactyly, hypopituitarism, hepatopathy, nephropathy, and congenital heart defect. Moreover, he presented with a suspected unilateral hearing loss and bilateral cleft lip‐palate. The variant is considered to affect correct splicing by the loss of the canonical acceptor splice site and activation of a cryptic acceptor splice site. Hereby, our patient represents one additional patient with BRENS syndrome carrying a previously unreported TTC26 variant. Furthermore, we confirm the involvement of the pituitary gland to be a common clinical feature of the syndrome and broaden the clinical spectrum of TTC26 ciliopathy to include facial clefts and a probable hearing involvement. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Author

Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, and Rohrer, Jonathan D

Published
2020
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14. Figure 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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15. Figure 3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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16. Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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17. Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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18. Data from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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19. Figure 4 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

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2023
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20. Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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21. Figure 2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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22. Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, primary, Kleiblova, Petra, primary, Zemankova, Petra, primary, Stastna, Barbora, primary, Janatova, Marketa, primary, Soukupova, Jana, primary, Achatz, Maria Isabel, primary, Ambrosone, Christine, primary, Apostolou, Paraskevi, primary, Arun, Banu K., primary, Auer, Paul, primary, Barnard, Mollie, primary, Bertelsen, Birgitte, primary, Matsuda, Koichi, primary, Kamatani, Yoichiro, primary, Morisaki, Takayuki, primary, Nagai, Akiko, primary, Muto, Kaori, primary, Murakami, Yoshinori, primary, Furukawa, Yoichi, primary, Yamanashi, Yuji, primary, Nakamura, Yusuke, primary, Mushiroda, Taisei, primary, Momozawa, Yukihide, primary, Tanaka, Toshihiro, primary, Ohnishi, Yozo, primary, Kubo, Michiaki, primary, Higashiue, Shinichi, primary, Kobayashi, Shuzo, primary, Minami, Shiro, primary, Yamaguhci, Hiroki, primary, Arai, Hajime, primary, Yamaji, Ken, primary, Okazaki, Yasushi, primary, Asai, Satoshi, primary, Takahashi, Yasuo, primary, Fujioka, Tomoaki, primary, Obara, Wataru, primary, Mori, Seijiro, primary, Murayama, Shigeo, primary, Nagayama, Satoshi, primary, Miki, Yoshio, primary, Masumoto, Akihide, primary, Yamada, Akira, primary, Nishizawa, Yasuko, primary, Higashiyama, Masahiko, primary, Kutsumi, Hiromu, primary, Koretsune, Yukihiro, primary, Yoshiyama, Takashi, primary, Blok, Marinus J., primary, Boddicker, Nicholas, primary, Brunet, Joan, primary, Burnside, Elizabeth S., primary, Calvello, Mariarosaria, primary, Campbell, Ian, primary, Chan, Sock Hoai, primary, Chen, Fei, primary, Chiang, Jian Bang, primary, Coppa, Anna, primary, Cortesi, Laura, primary, Crujeiras-González, Ana, primary, Borecka, Marianna, primary, Cerna, Marta, primary, Hovhannisyan, Milena, primary, Jelinkova, Sandra, primary, Nehasil, Petr, primary, Foretova, Lenka, primary, Machackova, Eva, primary, Krutilkova, Vera, primary, Tavandzis, Spiros, primary, Cerna, Leona, primary, Chvojka, Stepan, primary, Koudova, Monika, primary, Puchmajerova, Alena, primary, Havranek, Ondrej, primary, Novotny, Jan, primary, Vesela, Kamila, primary, Vocka, Michal, primary, Hruskova, Lucie, primary, Michalovska, Renata, primary, Schwetzova, Denisa, primary, Vlckova, Zdenka, primary, Cerna, Monika, primary, Hejnalova, Marketa, primary, Jedlickova, Nikol, primary, Subrt, Ivan, primary, Zavoral, Tomas, primary, Kosarova, Marcela, primary, Vacinova, Gabriela, primary, Janikova, Maria, primary, Kratochvilova, Romana, primary, Curtisova, Vaclava, primary, Vrtel, Radek, primary, Scheinost, Ondrej, primary, Duskova, Petra, primary, Stranecky, Viktor, primary, De Leeneer, Kim, primary, De Putter, Robin, primary, DePersia, Allison, primary, Devereux, Lisa, primary, Domchek, Susan, primary, Efremidis, Anna, primary, Engel, Christoph, primary, Ernst, Corinna, primary, Evans, D. Gareth R., primary, Feliubadaló, Lidia, primary, Fostira, Florentia, primary, Fuentes-Ríos, Olivia, primary, Gómez-García, Encarna B., primary, González, Sara, primary, Haiman, Christopher, primary, Hansen, Thomas van Overeem, primary, Hauke, Jan, primary, Hodge, James, primary, Hu, Chunling, primary, Huang, Hongyan, primary, Ishak, Nur Diana Binte, primary, Iwasaki, Yusuke, primary, Konstantopoulou, Irene, primary, Kraft, Peter, primary, Lacey, James, primary, Lázaro, Conxi, primary, Li, Na, primary, Lim, Weng Khong, primary, Lindstrom, Sara, primary, Lori, Adriana, primary, Martinez, Elana, primary, Martins, Alexandra, primary, Matullo, Giuseppe, primary, McInerny, Simone, primary, Michailidou, Kyriaki, primary, Montagna, Marco, primary, Monteiro, Alvaro N.A., primary, Mori, Luigi, primary, Nathanson, Katherine, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Palmer, Julie, primary, Pasini, Barbara, primary, Patel, Alpa, primary, Piane, Maria, primary, Poppe, Bruce, primary, Radice, Paolo, primary, Renieri, Alessandra, primary, Resta, Nicoletta, primary, Richardson, Marcy E., primary, Rosseel, Toon, primary, Ruddy, Kathryn J., primary, Santamariña, Marta, primary, Dos Santos, Elizabeth Santana, primary, Teras, Lauren, primary, Toland, Amanda E., primary, Trentham-Dietz, Amy, primary, Vachon, Celine M., primary, Volk, Alexander E., primary, Weber-Lassalle, Nana, primary, Weitzel, Jeffrey N., primary, Wiesmuller, Lisa, primary, Winham, Stacey, primary, Yadav, Siddhartha, primary, Yannoukakos, Drakoulis, primary, Yao, Song, primary, Zampiga, Valentina, primary, Zethoven, Magnus, primary, Zhang, Ze Wen, primary, Zima, Tomas, primary, Spurdle, Amanda B., primary, Vega, Ana, primary, Rossing, Maria, primary, Del Valle, Jesús, primary, De Nicolo, Arcangela, primary, Hahnen, Eric, primary, Claes, Kathleen B.M., primary, Ngeow, Joanne, primary, James, Paul A., primary, Couch, Fergus J., primary, Macurek, Libor, primary, and Kleibl, Zdenek, primary

Published
2023
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25. The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

Author

Rosenbohm, Angela, Hirsch, Susanne, Volk, Alexander E., Grehl, Torsten, Grosskreutz, Julian, Hanisch, Frank, Herrmann, Andreas, Kollewe, Katja, Kress, Wolfram, Meyer, Thomas, Petri, Susanne, Prudlo, Johannes, Wessig, Carsten, Müller, Hans-Peter, Dreyhaupt, Jens, Weishaupt, Jochen, Kubisch, Christian, Kassubek, Jan, Weydt, Patrick, and Ludolph, Albert C.

Published
2018
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26. Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor

Author

Winsvold, Bendik S., Harder, Aster V. E., Ran, Caroline, Chalmer, Mona A., Dalmasso, Maria Carolina, Ferkingstad, Egil, Tripathi, Kumar Parijat, Bacchelli, Elena, Børte, Sigrid, Fourier, Carmen, Petersen, Anja S., Vijfhuizen, Lisanne S., Magnusson, Sigurdur H., O'Connor, Emer, Bjornsdottir, Gyda, Häppölä, Paavo, Wang, Yen Feng, Callesen, Ida, Kelderman, Tim, Gallardo, Victor J., de Boer, Irene, Olofsgård, Felicia Jennysdotter, Heinze, Katja, Lund, Nunu, Thomas, Laurent F., Hsu, Chia Lin, Pirinen, Matti, Hautakangas, Heidi, Ribasés, Marta, Guerzoni, Simona, Sivakumar, Prasanth, Yip, Janice, Heinze, Axel, Küçükali, Fahri, Ostrowski, Sisse R., Pedersen, Ole B., Kristoffersen, Espen S., Martinsen, Amy E., Artigas, María S., Lagrata, Susie, Cainazzo, Maria Michela, Adebimpe, Joycee, Quinn, Olivia, Göbel, Carl, Cirkel, Anna, Volk, Alexander E., Heilmann-Heimbach, Stefanie, Skogholt, Anne Heidi, Gabrielsen, Maiken E., Wilbrink, Leopoldine A., Danno, Daisuke, Mehta, Dwij, Guðbjartsson, Daníel F., Rosendaal, Frits R., Willems van Dijk, Ko, Fronczek, Rolf, Wagner, Michael, Scherer, Martin, Göbel, Hartmut, Sleegers, Kristel, Sveinsson, Olafur A., Pani, Luca, Zoli, Michele, Ramos-Quiroga, Josep A., Dardiotis, Efthimios, Steinberg, Anna, Riedel-Heller, Steffi, Sjöstrand, Christina, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, Southgate, Laura, Trembath, Richard C., Vandrovcova, Jana, Noordam, Raymond, Paemeleire, Koen, Stefansson, Kari, Fann, Cathy Shen Jang, Waldenlind, Elisabet, Tronvik, Erling, Jensen, Rigmor H., Chen, Shih Pin, Houlden, Henry, Terwindt, Gisela M., Kubisch, Christian, Maestrini, Elena, Vikelis, Michail, Pozo-Rosich, Patricia, Belin, Andrea C., Matharu, Manjit, van den Maagdenberg, Arn M. J. M., Hansen, Thomas F., Ramirez, Alfredo, Zwart, John-Anker, Winsvold, Bendik S., Harder, Aster V. E., Ran, Caroline, Chalmer, Mona A., Dalmasso, Maria Carolina, Ferkingstad, Egil, Tripathi, Kumar Parijat, Bacchelli, Elena, Børte, Sigrid, Fourier, Carmen, Petersen, Anja S., Vijfhuizen, Lisanne S., Magnusson, Sigurdur H., O'Connor, Emer, Bjornsdottir, Gyda, Häppölä, Paavo, Wang, Yen Feng, Callesen, Ida, Kelderman, Tim, Gallardo, Victor J., de Boer, Irene, Olofsgård, Felicia Jennysdotter, Heinze, Katja, Lund, Nunu, Thomas, Laurent F., Hsu, Chia Lin, Pirinen, Matti, Hautakangas, Heidi, Ribasés, Marta, Guerzoni, Simona, Sivakumar, Prasanth, Yip, Janice, Heinze, Axel, Küçükali, Fahri, Ostrowski, Sisse R., Pedersen, Ole B., Kristoffersen, Espen S., Martinsen, Amy E., Artigas, María S., Lagrata, Susie, Cainazzo, Maria Michela, Adebimpe, Joycee, Quinn, Olivia, Göbel, Carl, Cirkel, Anna, Volk, Alexander E., Heilmann-Heimbach, Stefanie, Skogholt, Anne Heidi, Gabrielsen, Maiken E., Wilbrink, Leopoldine A., Danno, Daisuke, Mehta, Dwij, Guðbjartsson, Daníel F., Rosendaal, Frits R., Willems van Dijk, Ko, Fronczek, Rolf, Wagner, Michael, Scherer, Martin, Göbel, Hartmut, Sleegers, Kristel, Sveinsson, Olafur A., Pani, Luca, Zoli, Michele, Ramos-Quiroga, Josep A., Dardiotis, Efthimios, Steinberg, Anna, Riedel-Heller, Steffi, Sjöstrand, Christina, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, Southgate, Laura, Trembath, Richard C., Vandrovcova, Jana, Noordam, Raymond, Paemeleire, Koen, Stefansson, Kari, Fann, Cathy Shen Jang, Waldenlind, Elisabet, Tronvik, Erling, Jensen, Rigmor H., Chen, Shih Pin, Houlden, Henry, Terwindt, Gisela M., Kubisch, Christian, Maestrini, Elena, Vikelis, Michail, Pozo-Rosich, Patricia, Belin, Andrea C., Matharu, Manjit, van den Maagdenberg, Arn M. J. M., Hansen, Thomas F., Ramirez, Alfredo, and Zwart, John-Anker

Abstract

Objective The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry. In a secondary trans-ancestry meta-analysis, we included 734 cases and 9,846 controls of East Asian ancestry. Candidate causal genes were prioritized by 5 complementary methods: expression quantitative trait loci, transcriptome-wide association, fine-mapping of causal gene sets, genetically driven DNA methylation, and effects on protein structure. Gene set and tissue enrichment analyses, genetic correlation, genetic risk score analysis, and Mendelian randomization were part of the downstream analyses. Results The estimated single nucleotide polymorphism (SNP)-based heritability of cluster headache was 14.5%. We identified 9 independent signals in 7 genomewide significant loci in the primary meta-analysis, and one additional locus in the trans-ethnic meta-analysis. Five of the loci were previously known. The 20 genes prioritized as potentially causal for cluster headache showed enrichment to artery and brain tissue. Cluster headache was genetically correlated with cigarette smoking, risk-taking behavior, attention deficit hyperactivity disorder (ADHD), depression, and musculoskeletal pain. Mendelian randomization analysis indicated a causal effect of cigarette smoking intensity on cluster headache. Three of the identified loci were shared with migraine. Interpretation This first genomewide association study meta-analysis gives clues to the biological basis of cluster headache and indicates that smoking is a causal risk factor. ANN NEUROL, Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods: A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry. In a secondary trans-ancestry meta-analysis, we included 734 cases and 9,846 controls of East Asian ancestry. Candidate causal genes were prioritized by 5 complementary methods: expression quantitative trait loci, transcriptome-wide association, fine-mapping of causal gene sets, genetically driven DNA methylation, and effects on protein structure. Gene set and tissue enrichment analyses, genetic correlation, genetic risk score analysis, and Mendelian randomization were part of the downstream analyses. Results: The estimated single nucleotide polymorphism (SNP)-based heritability of cluster headache was 14.5%. We identified 9 independent signals in 7 genomewide significant loci in the primary meta-analysis, and one additional locus in the trans-ethnic meta-analysis. Five of the loci were previously known. The 20 genes prioritized as potentially causal for cluster headache showed enrichment to artery and brain tissue. Cluster headache was genetically correlated with cigarette smoking, risk-taking behavior, attention deficit hyperactivity disorder (ADHD), depression, and musculoskeletal pain. Mendelian randomization analysis indicated a causal effect of cigarette smoking intensity on cluster headache. Three of the identified loci were shared with migraine. Interpretation: This first genomewide association study meta-analysis gives clues to the biological basis of cluster headache and indicates that smoking is a causal risk factor. ANN NEUROL 2023.

Published
2023

27. ENIGMA CHEK2gether Project:A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek, Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, and Kleibl, Zdenek

Abstract

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with n, Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ~ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N ¼ 102), functionally intermediate (N ¼ 12), or functionally wild-type (WT)–like (N ¼ 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk

Published
2023

28. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

Author

Weyen, Ute, Hermann, Andreas, Regensburger, Martin, Winkler, Jürgen, Linker, Ralf, Winner, Beate, Hagenacker, Tim, Koch, Jan Christoph, Lingor, Paul, Göricke, Bettina, Zierz, Stephan, Jordan, Berit, Baum, Petra, Wolf, Joachim, Winkler, Andrea, Young, Peter, Bogdahn, Ulrich, Prudlo, Johannes, Kassubek, Jan, Yilmaz, Rüstem, Müller, Kathrin, Brenner, David, Volk, Alexander E., Borck, Guntram, Meitinger, Thomas, Strom, Tim M., Danzer, Karin M., Ludolph, Albert C., Andersen, Peter M., and Weishaupt, Jochen H.

Published
2020
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29. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

Author

Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horváth, Judit, Niederacher, Dieter, Arnold, Norbert, Kaulfuß, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmüller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nürnberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric, and Hauke, Jan

Published
2019
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31. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia withDAB1andC9ORF72Repeat Expansions: An 18‐Year Study

Author

Rosenbohm, Angela, primary, Pott, Hendrik, additional, Thomsen, Mirja, additional, Rafehi, Haloom, additional, Kaya, Sabine, additional, Szymczak, Silke, additional, Volk, Alexander E., additional, Mueller, Kathrin, additional, Silveira, Isabel, additional, Weishaupt, Jochen H., additional, Tönnies, Holger, additional, Seibler, Philip, additional, Zschiedrich, Katja, additional, Schaake, Susen, additional, Westenberger, Ana, additional, Zühlke, Christine, additional, Depienne, Christel, additional, Trinh, Joanne, additional, Ludolph, Albert C., additional, Klein, Christine, additional, Bahlo, Melanie, additional, and Lohmann, Katja, additional

Published
2022
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32. Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Author

Prondzynski, Maksymilian, primary, Lemoine, Marc D, additional, Zech, Antonia TL, additional, Horváth, András, additional, Di Mauro, Vittoria, additional, Koivumäki, Jussi T, additional, Kresin, Nico, additional, Busch, Josefine, additional, Krause, Tobias, additional, Krämer, Elisabeth, additional, Schlossarek, Saskia, additional, Spohn, Michael, additional, Friedrich, Felix W, additional, Münch, Julia, additional, Laufer, Sandra D, additional, Redwood, Charles, additional, Volk, Alexander E, additional, Hansen, Arne, additional, Mearini, Giulia, additional, Catalucci, Daniele, additional, Meyer, Christian, additional, Christ, Torsten, additional, Patten, Monica, additional, Eschenhagen, Thomas, additional, and Carrier, Lucie, additional

Published
2022
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33. Serum neurofilament light chain in behavioral variant frontotemporal dementia

Author

Steinacker, Petra, Anderl-Straub, Sarah, Diehl-Schmid, Janine, Semler, Elisa, Uttner, Ingo, von Arnim, Christine A.F., Barthel, Henryk, Danek, Adrian, Fassbender, Klaus, Fliessbach, Klaus, Foerstl, Hans, Grimmer, Timo, Huppertz, Hans-Jürgen, Jahn, Holger, Kassubek, Jan, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Maler, Juan Manuel, Mayer, Benjamin, Oeckl, Patrick, Prudlo, Johannes, Schneider, Anja, Volk, Alexander E., Wiltfang, Jens, Schroeter, Matthias L., Ludolph, Albert C., and Otto, Markus

Published
2018
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34. Hot-spot KIF5A mutations cause familial ALS

Author

Brenner, David, Yilmaz, Rüstem, Müller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G, Schrank, Berthold, Jordan, Berit, Knehr, Antje, Günther, Kornelia, Hübers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E, Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M, Freischmidt, Axel, Meitinger, Thomas, Strom, Tim M, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Weyen, Ute, Hermann, Andreas, Hagenacker, Tim, Koch, Jan Christoph, Lingor, Paul, Göricke, Bettina, Zierz, Stephan, Baum, Petra, Wolf, Joachim, Winkler, Andrea, Young, Peter, Bogdahn, Ulrich, Prudlo, Johannes, and Kassubek., Jan

Published
2018
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35. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

Author

Rosenbohm, Angela, Pott, Hendrik, Tönnies, Holger, Seibler, Philip, Zschiedrich, Katja, Schaake, Susen, Westenberger, Ana, Zühlke, Christine, Depienne, Christel, Trinh, Joanne, Ludolph, Albert C, Klein, Christine, Thomsen, Mirja, Bahlo, Melanie, Lohmann, Katja, Rafehi, Haloom, Kaya, Sabine, Szymczak, Silke, Volk, Alexander E, Mueller, Kathrin, Silveira, Isabel, and Weishaupt, Jochen H

Subjects
genetics [Cerebellar Ataxia], DAB1, repeat expansion, genetics [DNA Repeat Expansion], Medizin, diagnostic imaging [Frontotemporal Dementia], frontotemporal dementia, genome sequencing, genetics [Amyotrophic Lateral Sclerosis], spinocerebellar ataxia, SCA37, diagnostic imaging [Amyotrophic Lateral Sclerosis], genetics [Adaptor Proteins, Signal Transducing], nanopore sequencing, linkage studies in genetics, Humans, ddc:610, genetics [Spinocerebellar Ataxias], ALS, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein], genetics [Nerve Tissue Proteins]
Abstract

Background: Coding and noncoding repeat expansions are an important cause of neurodegenerative diseases. Objective: This study determined the clinical and genetic features of a large German family that has been followed for almost 2 decades with an autosomal dominantly inherited spinocerebellar ataxia (SCA) and independent co-occurrence of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods: We carried out clinical examinations and telephone interviews, reviewed medical records, and performed magnetic resonance imaging and positron emission tomography scans of all available family members. Comprehensive genetic investigations included linkage analysis, short-read genome sequencing, long-read sequencing, repeat-primed polymerase chain reaction, and Southern blotting. Results: The family comprises 118 members across seven generations, 30 of whom were definitely and five possibly affected. In this family, two different pathogenic mutations were found, a heterozygous repeat expansion in C9ORF72 in four patients with ALS/FTD and a heterozygous repeat expansion in DAB1 in at least nine patients with SCA, leading to a diagnosis of DAB1-related ataxia (ATX-DAB1; SCA37). One patient was affected by ALS and SCA and carried both repeat expansions. The repeat in DAB1 had the same configuration but was larger than those previously described ([ATTTT]≈₇₅[ATTTC]≈₄₀₋₁₀₀[ATTTT]≈₄₁₅). Clinical features in patients with SCA included spinocerebellar symptoms, sometimes accompanied by additional ophthalmoplegia, vertical nystagmus, tremor, sensory deficits, and dystonia. After several decades, some of these patients suffered from cognitive decline and one from additional nonprogressive lower motor neuron affection. Conclusion: We demonstrate genetic and clinical findings during an 18-year period in a unique family carrying two different pathogenic repeat expansions, providing novel insights into their genotypic and phenotypic spectrums. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

36. Relationship of serum beta-synuclein with blood biomarkers and brain atrophy

Author

Oeckl, Patrick, Anderl-Straub, Sarah, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L, Steinacker, Petra, Volk, Alexander E, Wagner, Matias, Winkelmann, Juliane, Danek, Adrian, Wiltfang, Jens, Ludolph, Albert C, Otto, Markus, Consortium, FTLD, Diehl-Schmid, Janine, Fassbender, Klaus, Fliessbach, Klaus, Halbgebauer, Steffen, Huppertz, Hans-Jürgen, Jahn, Holger, and Kassubek, Jan

Subjects
RESEARCH ARTICLE, RESEARCH ARTICLES, Alzheimer's disease, beta-synuclein, blood biomarker, brain atrophy, dementia, frontotemporal lobar degeneration, FTLD, NfL, p-tau181, synaptic degeneration, Epidemiology, tau Proteins, Cellular and Molecular Neuroscience, pathology [Alzheimer Disease], Developmental Neuroscience, pathology [Brain], Humans, ddc:610, pathology [Atrophy], Amyloid beta-Peptides, pathology [Frontotemporal Lobar Degeneration], Health Policy, ddc, Psychiatry and Mental health, Frontotemporal Dementia, Neurology (clinical), Geriatrics and Gerontology, Biomarkers
Abstract

Background: Recent data support beta-synuclein as a blood biomarker to study synaptic degeneration in Alzheimer's disease (AD).Methods: We provide a detailed comparison of serum beta-synuclein immunoprecipitation - mass spectrometry (IP-MS) with the established blood markers phosphorylated tau 181 (p-tau181) (Simoa) and neurofilament light (NfL) (Ella) in the German FTLD consortium cohort (n = 374) and its relation to brain atrophy (magnetic resonance imaging) and cognitive scores.Results: Serum beta-synuclein was increased in AD but not in frontotemporal lobar degeneration (FTLD) syndromes. Beta-synuclein correlated with atrophy in temporal brain structures and was associated with cognitive impairment. Serum p-tau181 showed the most specific changes in AD but the lowest correlation with structural alterations. NfL was elevated in all diseases and correlated with frontal and temporal brain atrophy.Discussion: Serum beta-synuclein changes differ from those of NfL and p-tau181 and are strongly related to AD, most likely reflecting temporal synaptic degeneration. Beta-synuclein can complement the existing panel of blood markers, thereby providing information on synaptic alterations.Highlights: Blood beta-synuclein is increased in Alzheimer's disease (AD) but not in frontotemporal lobar degeneration (FTLD) syndromes. Blood beta-synuclein correlates with temporal brain atrophy in AD. Blood beta-synuclein correlates with cognitive impairment in AD. The pattern of blood beta-synuclein changes in the investigated diseases is different to phosphorylated tau 181 (p-tau181) and neurofilament light (NfL).

Published
2022

37. Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

Author

Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, Simard, Jacques, Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, and Simard, Jacques

Abstract

Simple Summary Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction is unknown; more extensive sequencing efforts could potentially identify new moderate-penetrance breast cancer risk alleles. The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. We identified 20 novel genes with modest evidence of association (p-value < 0.05) for either overall or subtype-specific breast cancer; however, much larger studies are needed to confirm the exact role of these genes in susceptibility to breast cancer. Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide association studies, explain only a fraction of the familial aggregation of the disease. To identify further susceptibility genes, we performed a two-stage whole-exome sequencing study. In the discovery stage, samples from 1528 breast cancer cases enriched for breast cancer susceptibility and 3733 geographically matched unaffected controls were sequenced. Using five different filtering and gene prioritization strategies, 198 genes were selected for further validation. These genes, and a panel of 32 known or suspected breast cancer susceptibility genes, were assessed in a validation set of 6211 cases and 6019 controls for their association with risk of breast cancer overall, and by estrogen receptor (ER) disease subtypes, using gene burden tests applied to loss-of-function and rare missense variants. Twenty genes showed nominal evidence of association (p-value < 0.05) with either overall or subtype-specific breast cancer. Our study had the statistical p

Published
2022

40. Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias

Author

Steinacker, Petra, Semler, Elisa, Anderl-Straub, Sarah, Diehl-Schmid, Janine, Schroeter, Matthias L., Uttner, Ingo, Foerstl, Hans, Landwehrmeyer, Bernhard, von Arnim, Christine A.F., Kassubek, Jan, Oeckl, Patrick, Huppertz, Hans-Jürgen, Fassbender, Klaus, Fliessbach, Klaus, Prudlo, Johannes, Romeier, Carola, Kornhuber, Johannes, Schneider, Anja, Volk, Alexander E., Lauer, Martin, Danek, Adrian, Ludolph, Albert C., and Otto, Markus

Published
2017
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41. Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy.

Author

Oeckl, Patrick, Anderl‐Straub, Sarah, Danek, Adrian, Diehl‐Schmid, Janine, Fassbender, Klaus, Fliessbach, Klaus, Halbgebauer, Steffen, Huppertz, Hans‐Jürgen, Jahn, Holger, Kassubek, Jan, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L., Steinacker, Petra, Volk, Alexander E., Wagner, Matias, and Winkelmann, Juliane

Abstract

Background: Recent data support beta‐synuclein as a blood biomarker to study synaptic degeneration in Alzheimer's disease (AD). Methods: We provide a detailed comparison of serum beta‐synuclein immunoprecipitation – mass spectrometry (IP‐MS) with the established blood markers phosphorylated tau 181 (p‐tau181) (Simoa) and neurofilament light (NfL) (Ella) in the German FTLD consortium cohort (n = 374) and its relation to brain atrophy (magnetic resonance imaging) and cognitive scores. Results: Serum beta‐synuclein was increased in AD but not in frontotemporal lobar degeneration (FTLD) syndromes. Beta‐synuclein correlated with atrophy in temporal brain structures and was associated with cognitive impairment. Serum p‐tau181 showed the most specific changes in AD but the lowest correlation with structural alterations. NfL was elevated in all diseases and correlated with frontal and temporal brain atrophy. Discussion: Serum beta‐synuclein changes differ from those of NfL and p‐tau181 and are strongly related to AD, most likely reflecting temporal synaptic degeneration. Beta‐synuclein can complement the existing panel of blood markers, thereby providing information on synaptic alterations. Highlights: Blood beta‐synuclein is increased in Alzheimer's disease (AD) but not in frontotemporal lobar degeneration (FTLD) syndromes.Blood beta‐synuclein correlates with temporal brain atrophy in AD.Blood beta‐synuclein correlates with cognitive impairment in AD.The pattern of blood beta‐synuclein changes in the investigated diseases is different to phosphorylated tau 181 (p‐tau181) and neurofilament light (NfL). [ABSTRACT FROM AUTHOR]

Published
2023
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43. Serum GFAP differentiates Alzheimer’s disease from frontotemporal dementia and predicts MCI-to-dementia conversion

Author

Oeckl, Patrick, primary, Anderl-Straub, Sarah, additional, Von Arnim, Christine A F, additional, Baldeiras, Inês, additional, Diehl-Schmid, Janine, additional, Grimmer, Timo, additional, Halbgebauer, Steffen, additional, Kort, Anna M, additional, Lima, Marisa, additional, Marques, Tainá M, additional, Ortner, Marion, additional, Santana, Isabel, additional, Steinacker, Petra, additional, Verbeek, Marcel M, additional, Volk, Alexander E, additional, Ludolph, Albert C, additional, and Otto, Markus, additional

Published
2022
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46. NEK1 mutations in familial amyotrophic lateral sclerosis

Author

Brenner, David, Müller, Kathrin, Wieland, Thomas, Weydt, Patrick, Böhm, Sarah, Lulé, Dorothée, Hübers, Annemarie, Neuwirth, Christoph, Weber, Markus, Borck, Guntram, Wahlqvist, Magnus, Danzer, Karin M., Volk, Alexander E., Meitinger, Thomas, Strom, Tim M., Otto, Markus, Kassubek, Jan, Ludolph, Albert C., Andersen, Peter M., and Weishaupt, Jochen H.

Published
2016
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47. Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

Author

Steinacker, Petra, Feneberg, Emily, Weishaupt, Jochen, Brettschneider, Johannes, Tumani, Hayrettin, Andersen, Peter M, von Arnim, Christine A F, Böhm, Sarah, Kassubek, Jan, Kubisch, Christian, Lulé, Dorothée, Müller, Hans-Peter, Muche, Rainer, Pinkhardt, Elmar, Oeckl, Patrick, Rosenbohm, Angela, Anderl-Straub, Sarah, Volk, Alexander E, Weydt, Patrick, Ludolph, Albert C, and Otto, Markus

Published
2016
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