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O

Outi Kuismin

University of Oulu
H指数:18
被引数:1,795

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What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis

什么是临床遗传学中的风险？使用故障模式与影响分析设计并试点用于评估临床遗传学中风险的工具

European Journal of Human Genetics
IF4.6
2025-10-270
OA
Deborah M. Lambert; Helen Stewart; Mari Bandiola; Marta Bertoli; Dearbhla Butterly; Outi Kuismin; Jukka Moilanen; Gillian Rea; Ioana Streata; Anna Griffin; Vicky McGrath; Deborah Behan; Natasha Coen; Sheila King; Elaine Kilroe; Alana J. Ward; Sally Ann Lynch
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis

截断NFKB1变体会导致NLRP3炎性体激活和I型干扰素信号传导相结合，并易患坏死性筋膜炎

CELL REPORTS MEDICINE
IF10.6
2024-04-011
OAAI
Nurmi, Katariina; Silventoinen, Kristiina; Keskitalo, Salla; Rajamaki, Kristiina; Kouri, Vesa-Petteri; Kinnunen, Matias; Jalil, Sami; Maldonado, Rocio; Wartiovaara, Kirmo; Nievas, Elma Ines; Denita-Juarez, Silvina Paola; Duncan, Christopher J. A.; Kuismin, Outi; Saarela, Janna; Romo, Inka; Martelius, Timi; Parantainen, Jukka; Beklen, Arzu; Bilicka, Marcelina; Matikainen, Sampsa; Nordstroem, Dan C.; Kaustio, Meri; Wartiovaara-Kautto, Ulla; Kilpivaara, Outi; Klein, Christoph; Hauck, Fabian; Jahkola, Tiina; Hautala, Timo; Varjosalo, Markku; Barreto, Goncalo; Seppanen, Mikko R. J.; Eklund, Kari K.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-03-112
OAAI
Urpa, Lea; Kurki, Mitja I.; Rahikkala, Elisa; Hamalainen, Eija; Salomaa, Veikko; Suvisaari, Jaana; Keski-Filppula, Riikka; Rauhala, Merja; Korpi-Heikkilae, Satu; Komulainen-Ebrahim, Jonna; Helander, Heli; Vieira, Paeivi; Uusimaa, Johanna; Moilanen, Jukka S.; Koerkkoe, Jarmo; Singh, Tarjinder; Kuismin, Outi; Pietilaeinen, Olli; Palotie, Aarno; Daly, Mark J.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
GENETICS IN MEDICINE
IF6.2
2023-11-014
OAAI
Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia
Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders
GENETICS IN MEDICINE
IF6.2
2023-08-012
OAAI
Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis

NFKB1 p.R157X LOF和无菌性坏死性筋膜炎家庭的炎症和中性粒细胞氧化爆发

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2023-03-094
OAAI
Santaniemi, Wenny; Astrom, Pirjo; Glumoff, Virpi; Pernaa, Nora; Tallgren, Ella-Noora; Palosaari, Sanna; Nissinen, Antti; Kaustio, Meri; Kuismin, Outi; Saarela, Janna; Nurmi, Katariina; Eklund, Kari K.; Seppanen, Mikko R. J.; Hautala, Timo
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
NATURE COMMUNICATIONS
IF15.7
2022-06-2722
OAAI
Nehme, Ralda; Pietilainen, Olli; Artomov, Mykyta; Tegtmeyer, Matthew; Valakh, Vera; Lehtonen, Leevi; Bell, Christina; Singh, Tarjinder; Trehan, Aditi; Sherwood, John; Manning, Danielle; Peirent, Emily; Malik, Rhea; Guss, Ellen J.; Hawes, Derek; Beccard, Amanda; Bara, Anne M.; Hazelbaker, Dane Z.; Zuccaro, Emanuela; Genovese, Giulio; Loboda, Alexander A.; Neumann, Anna; Lilliehook, Christina; Kuismin, Outi; Hamalainen, Eija; Kurki, Mitja; Hultman, Christina M.; Kahler, Anna K.; Paulo, Joao A.; Ganna, Andrea; Madison, Jon; Cohen, Bruce; McPhie, Donna; Adolfsson, Rolf; Perlis, Roy; Dolmetsch, Ricardo; Farhi, Samouil; McCarroll, Steven; Hyman, Steven; Neale, Ben; Barrett, Lindy E.; Harper, Wade; Palotie, Aarno; Daly, Mark; Eggan, Kevin

研究方向

暂未获取到该数据
M
Mitja Kurki
H 指数:56论文数:194被引数:2.7万
J
Jukka S. Moilanen
H 指数:31论文数:125被引数:5,401
E
Elisa Rahikkala
H 指数:24论文数:91被引数:2,125
O
Olli Pietiläinen
H 指数:50论文数:198被引数:1.7万
A
Aarno Palotie
H 指数:171论文数:1,254被引数:18.7万
J
Jarmo Körkkö
H 指数:21论文数:64被引数:4,087
K
Katri Pylkäs
H 指数:59论文数:271被引数:2.1万
M
Mikko Seppänen
H 指数:50论文数:221被引数:1.4万
T
Timo Hautala
H 指数:28论文数:87被引数:2,290
L
Lauri A. Aaltonen
H 指数:119论文数:665被引数:7.1万