Elisa J Rahikkala (Elisa Rahikkala)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 16

Top Topics

Intellectual Disability

Top Venues

European journal of human genetics : EJHG

Molecular genetics & genomic medicine

Developmental medicine and child neurology

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Jaakko H Oikarainen, Oula A Knuutinen, Salla M Kangas, Elisa J Rahikkala, Tytti M-L Pokka, Jukka S Moilanen, Reetta M Hinttala, Päivi M Vieira, Johanna M Uusimaa, Maria H Suo-Palosaari
Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities. Developmental medicine and child neurology (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Elisa J Rahikkala, Jonna Komulainen-Ebrahim, Jussi Pekka Tolonen, Sandra Vorimo, Maria Suo-Palosaari, Päivi Vieira, Johanna Piispala, Johanna Uusimaa, Katri Pylkäs, Tuomo Mantere
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3. Molecular genetics & genomic medicine 12 (9) (2024)
Laura Lähteenoja, Tapani Palosaari, Timo Tiirikka, Maria Haanpää, Jukka S Moilanen, Aura Falck, Elisa J Rahikkala
Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants. Acta ophthalmologica (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Elisa J Rahikkala, Lea Urpa, Bishwa R Ghimire, Hande Topa, Mitja I Kurki, Maryna Koskela, Mikko Airavaara, Eija Hämäläinen, Katri Pylkäs, Jarmo Körkkö, Helena Savolainen, Anu Suoranta, Aida Maria Bertoli-Avella, Arndt Rolfs, Pirkko Mattila, Mark Daly, Aarno Palotie, Olli Pietiläinen, Jukka S Moilanen, Outi Kuismin
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. European journal of human genetics : EJHG 30 (5) (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Minna Kraatari, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G Karimiani, Jonna Komulainen-Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie-Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B Toosi, Christopher J Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida Maria Bertoli-Avella, Peppi Karppinen, Elisa J Rahikkala
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clinical genetics 102 (5) (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Minna Kraatari, Maria K Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S Moilanen, Sanna Häkli, Elisa J Rahikkala
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants. Journal of clinical medicine 11 (7) (2022)
Menno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A Stutterd, Corrie E Erasmus, Amarilis Sanchez-Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa J Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E M Abbink, Enrico S Bertini, Marjo S Van der Knaap
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. Neurology. Genetics 7 (2) (2021)
Elisa J Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S Plomp, Reginald E Bittner, Mitja I Kurki, Outi Kuismin, Andrea M Lewis, Marja-Leena Väisänen, Hannaleena Kokkonen, Jonne Westermann, Günther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana van Koningsbruggen, Xia Wang, Wolfgang M Schmidt, Peppi Koivunen, Johanna Uusimaa
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genetics in medicine : official journal of the American College of Medical Genetics 21 (10) (2019)