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Adam Ameur

uppsala university
H指数:42
被引数:1.1万

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Toward the clinical application of long-read sequencing in repeat-expansion disorders

长读测序在重复序列扩增疾病中的临床应用展望

Nature Genetics
IF29
2026-08-200
PRE
Louise Benarroch; Jovan Pešović; Marzia Rossato; Zhongbo Chen; Morghan C. Lucas; Guillaume Cogan; Indhu-Shree Rajan-Babu; Vitus Prokosch; Christina Zarouchlioti; Marco Carlomagno; Ida Höijer; Mayra Sauer; Ismail Jamail; Shota Shibata; Glen Lester Sequiera; Benjamin P. Kleinstiver; Sonia Lameiras; Ricardo Mouro Pinto; Giuseppe Novelli; Davina Hensman Moss; Natalia Dominik; Mathieu Barbier; Isabelle Le Ber; Guillaume Bassez; Denis Furling; Massimo Delledonne; Karen Usdin; Sylvain Baulande; Geneviève Gourdon; Birgitt Schüle; Dušanka Savić-Pavićević; Annalisa Botta; Alice E. Davidson; Adam Ameur; Vincent Dion; Stéphanie Tomé
UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups

UYSD：一种可通过公共网站访问的新型数据存储库，用于全球Y-SNP单倍群的群体频率。

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-05-080
OA
Ralf, Arwin; Zandstra, Dion; van Wersch, Bram; Koksal, Zehra; Larmuseau, Maarten H. D.; Rosa, Alexandra; Jobling, Mark A.; D'Amato, Maria E.; Courts, Cornelius; Gysi, Mario; Haas, Cordula; Flores, Rodrigo; Neis, Maximilian; Wetton, Jon H.; Kiesler, Kevin; Ameur, Adam; Azonbakin, Simon; Bozikova, Alexandra; Choma, Andrej; De Ungria, Maria Corazon; Corradini, Beatrice; Cruz, Catarina; Dunkelmann, Bettina; Ferri, Gianmarco; Fleckhaus, Jan; Fragou, Domniki; Gaens, Noah; Goncalves, Rita; Havas Augustin, Dubravka Havas; Helm, Katharina; Hoelzl-Mueller, Petra; Kaliszan, Michal; Kasu, Mohaimin; Kovatsi, Leda; Lesaoana, Mpasi; Mizuno, Natsuko; Neuhuber, Franz; Novackova, Jana; Nunukova, Alena; Pamjav, Horolma; Parson, Walther; Ramankulov, Yerlan; Rangel Villalobos, Hector; Rebala, Krzysztof; Rootsi, Siiri; Salvador, Jazelyn; Sarac, Jelena; Steffen, Carolyn R.; Stenzl, Vlastimil; Torok, Tibor; Villems, Richard; Watahiki, Haruhiko; Zhabagin, Maxat; Schneider, Peter M.; Kayser, Manfred
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
GENOME RESEARCH
IF5.5
2024-11-011
OAAI
Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse D.; Lun, Ming Yin; Grochowski, Christopher M.; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A.; Liu, Pengfei; Ek, Marlene; Schuy, Jakob; Ameur, Adam; Dai, Hongzheng; Hwang, James Paul; Sedlazeck, Fritz J.; Bi, Weimin; Marom, Ronit; Wincent, Josephine; Nordgren, Ann; Carvalho, Claudia M. B.; Lindstrand, Anna
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
GENOME RESEARCH
IF5.5
2024-10-291
PRE
Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee; Ek, Marlene; Wincent, Josephine; Vaz, Raquel; Ottosson, Jesper; Jonson, Tord; Ivarsson, Sofie; Thunstroem, Sofia; Topa, Alexandra; Stenberg, Simon; Rohlin, Anna; Sandestig, Anna; Nordling, Margareta; Palmeback, Pia; Burstedt, Magnus; Nordin, Frida; Stattin, Eva-Lena; Sobol, Maria; Baliakas, Panagiotis; Bondeson, Marie-Louise; Hoijer, Ida; Saether, Kristine Bilgrav; Lovmar, Lovisa; Ehrencrona, Hans; Melin, Malin; Feuk, Lars; Lindstrand, Anna
MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma

杆状染色体中的MDM2扩增为脂肪肉瘤中环状基因扩增的早期阶段提供了线索

COMMUNICATIONS BIOLOGY
IF5.1
2024-05-202
OAAI
Sydow, Saskia; Piccinelli, Paul; Mitra, Shamik; Tsagkozis, Panagiotis; Hesla, Asle; De Mattos, Camila B. R.; Koester, Jan; Magnusson, Linda; Nilsson, Jenny; Ameur, Adam; Wardenaar, Rene; Foijer, Floris; Spierings, Diana; Mertens, Fredrik
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots
HUMAN MUTATION
IF3.7
2023-05-090
OAAI
Lazarian, Gregory; Leroy, Bernard; Theves, Floriane; Hormi, Myriam; Letestu, Remi; Eclache, Virginie; Tueur, Giulia; Ameur, Adam; Bidet, Audrey; Cornillet-Lefebvre, Pascale; Davi, Frederic; Delabesse, Eric; Estienne, Marie-Helene; Etancelin, Pascaline; Kosmider, Olivier; Laibe, Sophy; Muller, Marc; Nadal, Nathalie; Naguib, Dina; Pastoret, Cedric; Poulain, Stephanie; Sujobert, Pierre; Veronese, Lauren; Imache, Samia; Lefebvre, Valerie; Cymbalista, Florence; Baran-Marszak, Fanny; Soussi, Thierry
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

身体活动和久坐行为的全基因组关联分析提供了对疾病预防的潜在机制和作用的见解

NATURE GENETICS
IF31.8
2022-09-0787
OAAI
Wang, Zhe; Emmerich, Andrew; Pillon, Nicolas J.; Moore, Tim; Hemerich, Daiane; Cornelis, Marilyn C.; Mazzaferro, Eugenia; Broos, Siacia; Ahluwalia, Tarunveer S.; Bartz, Traci M.; Bentley, Amy R.; Bielak, Lawrence F.; Chong, Mike; Chu, Audrey Y.; Berry, Diane; Dorajoo, Rajkumar; Dueker, Nicole D.; Kasbohm, Elisa; Feenstra, Bjarke; Feitosa, Mary F.; Gieger, Christian; Graff, Mariaelisa; Hall, Leanne M.; Haller, Toomas; Hartwig, Fernando P.; Hillis, David A.; Huikari, Ville; Heard-Costa, Nancy; Holzapfel, Christina; Jackson, Anne U.; Johansson, Asa; Jorgensen, Anja Moltke; Kaakinen, Marika A.; Karlsson, Robert; Kerr, Kathleen F.; Kim, Boram; Koolhaas, Chantal M.; Kutalik, Zoltan; Lagou, Vasiliki; Lind, Penelope A.; Lorentzon, Mattias; Lyytikainen, Leo-Pekka; Mangino, Massimo; Metzendorf, Christoph; Monroe, Kristine R.; Pacolet, Alexander; Perusse, Louis; Pool, Rene; Richmond, Rebecca C.; Rivera, Natalia, V; Robiou-Du-Pont, Sebastien; Schraut, Katharina E.; Schulz, Christina-Alexandra; Stringham, Heather M.; Tanaka, Toshiko; Teumer, Alexander; Turman, Constance; Van der Most, Peter J.; Vanmunster, Mathias; Van Rooij, Frank J. A.; Van Vliet-Ostaptchouk, Jana V.; Zhang, Xiaoshuai; Zhao, Jing-Hua; Zhao, Wei; Balkhiyarova, Zhanna; Balslev-Harder, Marie N.; Baumeister, Sebastian E.; Beilby, John; Blangero, John; Boomsma, Dorret, I; Brage, Soren; Braund, Peter S.; Brody, Jennifer A.; Bruinenberg, Marcel; Ekelund, Ulf; Liu, Ching-Ti; Cole, John W.; Collins, Francis S.; Cupples, L. Adrienne; Esko, Tonu; Enroth, Stefan; Faul, Jessica D.; Fernandez-Rhodes, Lindsay; Fohner, Alison E.; Franco, Oscar H.; Galesloot, Tessel E.; Gordon, Scott D.; Grarup, Niels; Hartman, Catharina A.; Heiss, Gerardo; Hui, Jennie; Illig, Thomas; Jago, Russell; James, Alan; Joshi, Peter K.; Jung, Taeyeong; Kahonen, Mika; Kilpelainen, Tuomas O.; Koh, Woon-Puay; Kolcic, Ivana; Kraft, Peter P.; Kuusisto, Johanna; Launer, Lenore J.; Li, Aihua; Linneberg, Allan; Luan, Jian'An; Vidal, Pedro Marques; Medland, Sarah E.; Milaneschi, Yuri; Moscati, Arden; Musk, Bill; Nelson, Christopher P.; Nolte, Ilja M.; Pedersen, Nancy L.; Peters, Annette; Peyser, Patricia A.; Power, Christine; Raitakari, Olli T.; Reedik, Magi; Reiner, Alex P.; Ridker, Paul M.; Rudan, Igor; Ryan, Kathy; Sarzynski, Mark A.; Scott, Laura J.; Scott, Robert A.; Sidney, Stephen; Siggeirsdottir, Kristin; Smith, Albert, V; Smith, Jennifer A.; Sonestedt, Emily; Strom, Marin; Tai, E. Shyong; Teo, Koon K.; Thorand, Barbara; Toenjes, Anke; Tremblay, Angelo; Uitterlinden, Andre G.; Vangipurapu, Jagadish; Van Schoor, Natasja; Volker, Uwe; Willemsen, Gonneke; Williams, Kayleen; Wong, Quenna; Xu, Huichun; Young, Kristin L.; Yuan, Jian Min; Zillikens, M. Carola; Zonderman, Alan B.; Ameur, Adam; Bandinelli, Stefania; Bis, Joshua C.; Boehnke, Michael; Bouchard, Claude; Chasman, Daniel, I; Smith, George Davey; De Geus, Eco J. C.; Deldicque, Louise; Dorr, Marcus; Evans, Michele K.; Ferrucci, Luigi; Fornage, Myriam; Fox, Caroline; Garland, Theodore, Jr.; Gudnason, Vilmundur; Gyllensten, Ulf; Hansen, Torben; Hayward, Caroline; Horta, Bernardo L.; Hypponen, Elina; Jarvelin, Marjo-Riitta; Johnson, W. Craig; Kardia, Sharon L. R.; Kiemeney, Lambertus A.; Laakso, Markku; Langenberg, Claudia; Lehtimaki, Terho; Le Marchand, Loic; Magnusson, Patrik K. E.; Martin, Nicholas G.; Melbye, Mads; Metspalu, Andres; Meyre, David; North, Kari E.; Ohlsson, Claes; Oldehinkel, Albertine J.; Orho-Melander, Marju; Pare, Guillaume; Park, Taesung; Pedersen, Oluf; Penninx, Brenda W. J. H.; Pers, Tune H.; Polasek, Ozren; Prokopenko, Inga; Rotimi, Charles N.; Samani, Nilesh J.; Sim, Xueling; Snieder, Harold; Sorensen, Thorkild I. A.; Spector, Tim D.; Timpson, Nicholas J.; Van Dam, Rob M.; Van der Velde, Nathalie; Van Duijn, Cornelia M.; Vollenweider, Peter; Volzke, Henry; Voortman, Trudy; Waeber, Gerard; Wareham, Nicholas J.; Weir, David R.; Wichmann, Heinz-Erich; Wilson, James F.; Hevener, Andrea L.; Krook, Anna; Zierath, Juleen R.; Thomis, Martine A., I; Loos, Ruth J. F.; Den Hoed, Marcel

研究方向

暂未获取到该数据
U
Ulf Gyllensten
H 指数:103论文数:476被引数:6.4万
L
Lars Feuk
H 指数:51论文数:173被引数:3.0万
I
Ida Höijer
H 指数:13论文数:34被引数:858
I
Ignas Bunikis
H 指数:27论文数:100被引数:2,672
S
Stefan Enroth
H 指数:46论文数:165被引数:1.9万
J
Jan Komorowski
H 指数:56论文数:396被引数:2.8万
C
Claes Wadelius
H 指数:56论文数:241被引数:2.8万
N
Niklas Dahl
H 指数:62论文数:354被引数:1.5万
Å
Åsa Johansson
H 指数:78论文数:406被引数:5.1万
M
Marie-Louise Bondeson
H 指数:17论文数:47被引数:1,074