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E

Elisa Rahikkala

Oulu University Hospital
H指数:24
被引数:2,125

个人简介

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教育背景

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工作经历

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荣誉奖项

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Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-03-010
PRE
Scheidecker, Sophie; Bar, Severine; Kroll-Hermi, Ariane; Delvallee, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Veronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Helene
ARTICLE Natural history of adults with KBG syndrome: A physician-reported experience
GENETICS IN MEDICINE
IF6.2
2024-08-010
PRE
Bayat, Allan; Grimes, Hannah; de Boer, Elke; Herlin, Morten Krogh; Dahl, Rebekka Staal; Lund, Ida Charlotte Bay; Bayat, Michael; Bolund, Anneli Clea Skjelmose; Gjerulfsen, Cathrine Elisabeth; Gregersen, Pernille Axel; Zilmer, Monica; Juhl, Stefan; Cebula, Katarzyna; Rahikkala, Elisa; Maystadt, Isabelle; Peron, Angela; Vignoli, Aglaia; Alfano, Rosa Maria; Stanzial, Franco; Benedicenti, Francesco; Curro, Aurora; Luk, Ho-Ming; Jouret, Guillaume; Zurita, Ella; Heuft, Lara; Schnabel, Franziska; Busche, Andreas; Veenstra-Knol, Hermine Elisabeth; Tkemaladze, Tinatin; Vrielynck, Pascal; Lederer, Damien; Platzer, Konrad; Ockeloen, Charlotte Wilhelmina; Goel, Himanshu; Low, Karen Jaqueline
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.
Natural history of KBG syndrome in a large European cohort

大型欧洲队列中KBG综合征的自然史

HUMAN MOLECULAR GENETICS
IF3.2
2022-07-2117
OAAI
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A.; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukas; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F.; Spinelli, Alessandro Mauro; Bruno, Irene; Curro, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A.; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Ounap, Katrin; Haanpaa, Maria K.; Holubova, Andrea; Zoubkova, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihverainen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Maria, Anna
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-01-289
OAAI
Rahikkala, Elisa; Urpa, Lea; Ghimire, Bishwa; Topa, Hande; Kurki, Mitja, I; Koskela, Maryna; Airavaara, Mikko; Hamalainen, Eija; Pylkas, Katri; Korkko, Jarmo; Savolainen, Helena; Suoranta, Anu; Bertoli-Avella, Aida; Rolfs, Arndt; Mattila, Pirkko; Daly, Mark; Palotie, Aarno; Pietilainen, Olli; Moilanen, Jukka; Kuismin, Outi
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

DIAPH1的丢失导致SCBMS，联合免疫缺陷和线粒体功能障碍

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2021-08-0126
OAAI
Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Astrom, Pirjo; Mamia, Katariina; Pernaa, Nora; Lehtonen, Johanna; Glumoff, Virpi; Rahikkala, Elisa; Honkila, Minna; Olsen, Paivi; Hassinen, Antti; Polso, Minttu; Al Sukaiti, Nashat; Al Shekaili, Jalila; Al Kindi, Mahmood; Al Hashmi, Nadia; Almusa, Henrikki; Bulanova, Daria; Haapaniemi, Emma; Chen, Pu; Suo-Palosaari, Maria; Vieira, Paivi; Tuominen, Hannu; Kokkonen, Hannaleena; Al Macki, Nabil; Al Habsi, Huda; Lopponen, Tuija; Rantala, Heikki; Pietiainen, Vilja; Zhang, Shen-Ying; Renko, Marjo; Hautala, Timo; Al Farsi, Tariq; Uusimaa, Johanna; Saarela, Janna

研究方向

暂未获取到该数据
J
Jukka S. Moilanen
H 指数:31论文数:125被引数:5,399
J
Johanna Uusimaa
H 指数:34论文数:151被引数:4,084
O
Outi Kuismin
H 指数:18论文数:77被引数:1,795
P
Päivi Vieira
H 指数:16论文数:59被引数:870
R
Reetta Hinttala
H 指数:27论文数:120被引数:9,639
M
Mitja Kurki
H 指数:56论文数:194被引数:2.7万
M
Maria Suo‐Palosaari
H 指数:14论文数:45被引数:540
J
Jarmo Körkkö
H 指数:21论文数:64被引数:4,087
S
Salla M. Kangas
H 指数:11论文数:38被引数:467
J
Jonna Komulainen‐Ebrahim
H 指数:8论文数:26被引数:405