Works by Rahikkala, Elisa

Results: 21

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70014

By:

Rahikkala, Elisa;
Komulainen‐Ebrahim, Jonna;
Tolonen, Jussi‐Pekka;
Vorimo, Sandra;
Suo‐Palosaari, Maria;
Vieira, Päivi;
Piispala, Johanna;
Uusimaa, Johanna;
Pylkäs, Katri;
Mantere, Tuomo

Publication type:

Article

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1866

By:

Bharadwaj, Thashi;
Schrauwen, Isabelle;
Acharya, Anushree;
Nouel‐Saied, Liz M.;
Väisänen, Marja‐Leena;
Kraatari, Minna;
Rahikkala, Elisa;
Jarvela, Irma;
Kotimäki, Jouko;
Leal, Suzanne M.

Publication type:

Article

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Published in:

JAMA Neurology, 2016, v. 73, n. 7, p. 836, doi. 10.1001/jamaneurol.2016.0363

By:

Mirzaa, Ghayda M.;
Campbell, Catarina D.;
Solovieff, Nadia;
Goold, Carleton P.;
Jansen, Laura A.;
Menon, Suchithra;
Timms, Andrew E.;
Conti, Valerio;
Biag, Jonathan D.;
Olds, Carissa;
Boyle, Evan August;
Collins, Sarah;
Ishak, Gisele;
Poliachik, Sandra L.;
Girisha, Katta M.;
Kit-San Yeung;
Yin Chung, Brian Hon;
Rahikkala, Elisa;
Gunter, Sonya A.;
McDaniel, Sharon S.

Publication type:

Article

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.

Published in:

Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1372662

By:

Järvelä, Viivi;
Hamze, Mira;
Komulainen-Ebrahim, Jonna;
Rahikkala, Elisa;
Piispala, Johanna;
Kallio, Mika;
Kangas, Salla M.;
Nickl, Tereza;
Huttula, Marko;
Hinttala, Reetta;
Uusimaa, Johanna;
Medina, Igor;
Immonen, Esa-Ville

Publication type:

Article

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446

By:

Vieira, Päivi;
Nagy, Irina I.;
Rahikkala, Elisa;
Väisänen, Marja‐Leena;
Latva, Katariina;
Kaunisto, Kari;
Valmari, Pekka;
Keski‐Filppula, Riikka;
Haanpää, Maria K.;
Sidoroff, Virpi;
Miettinen, Päivi J.;
Arkkola, Tuula;
Ojaniemi, Marja;
Nuutinen, Matti;
Uusimaa, Johanna;
Myllynen, Päivi

Publication type:

Article

Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.

Published in:

Biomedicines, 2024, v. 12, n. 2, p. 330, doi. 10.3390/biomedicines12020330

By:

Roemen, Guido M. J. M.;
Theunissen, Tom E. J.;
Hoezen, Ward W. J.;
Steyls, Anja R. M.;
Paulussen, Aimee D. C.;
Mosterd, Klara;
Rahikkala, Elisa;
zur Hausen, Axel;
Speel, Ernst Jan M.;
van Geel, Michel

Publication type:

Article

Natural history of KBG syndrome in a large European cohort.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167

By:

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, Lukáš;
Brunetti-Pierri, Nicola;
Lasa-Aranzasti, Amaia;
Cueto-González, Anna Maria;
Trujillano, Laura;
Valenzuela, Irene;
Tizzano, Eduardo F;
Spinelli, Alessandro Mauro

Publication type:

Article

Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

Published in:

British Journal of Haematology, 2024, v. 204, n. 5, p. 2040, doi. 10.1111/bjh.19368

By:

Ukonmaanaho, Elli‐Maija;
Dell'Anna, Silvia;
Hakonen, Anna;
Wartiovaara‐Kautto, Ulla;
Kakko, Sakari;
Rab, Minke A. E.;
van Oirschot, Brigitte;
Kraatari‐Tiri, Minna;
van Wijk, Richard;
Rahikkala, Elisa

Publication type:

Article

ATM c.7570G>C is a high‐risk allele for breast cancer.

Published in:

International Journal of Cancer, 2023, v. 152, n. 3, p. 429, doi. 10.1002/ijc.34305

By:

Kankuri‐Tammilehto, Minna;
Tervasmäki, Anna;
Kraatari‐Tiri, Minna;
Rahikkala, Elisa;
Pylkäs, Katri;
Kuismin, Outi

Publication type:

Article

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08262-y

By:

Kurki, Mitja I.;
Saarentaus, Elmo;
Pietiläinen, Olli;
Gormley, Padhraig;
Lal, Dennis;
Kerminen, Sini;
Torniainen-Holm, Minna;
Hämäläinen, Eija;
Rahikkala, Elisa;
Keski-Filppula, Riikka;
Rauhala, Merja;
Korpi-Heikkilä, Satu;
Komulainen-Ebrahim, Jonna;
Helander, Heli;
Vieira, Päivi;
Männikkö, Minna;
Peltonen, Markku;
Havulinna, Aki S.;
Salomaa, Veikko;
Pirinen, Matti

Publication type:

Article

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709

By:

Lee, Jae‐Ran;
Srour, Myriam;
Kim, Doyoun;
Hamdan, Fadi. F.;
Lim, So‐Hee;
Brunel‐Guitton, Catherine;
Décarie, Jean‐Claude;
Rossignol, Elsa;
Mitchell, Grant A.;
Schreiber, Allison;
Moran, Rocio;
Haren, Keith;
Richardson, Randal;
Nicolai, Joost;
Oberndorff, Karin M.E.J.;
Wagner, Justin D.;
Boycott, Kym M.;
Rahikkala, Elisa;
Junna, Nella;
Tyynismaa, Henna

Publication type:

Article

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 2, p. 186, doi. 10.1111/dmcn.16036

By:

Oikarainen, Jaakko H.;
Knuutinen, Oula A.;
Kangas, Salla M.;
Rahikkala, Elisa J.;
Pokka, Tytti M.‐L.;
Moilanen, Jukka S.;
Hinttala, Reetta M.;
Vieira, Päivi M.;
Uusimaa, Johanna M.;
Suo‐Palosaari, Maria H.

Publication type:

Article

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884

By:

Knuutinen, Oula A;
Oikarainen, Jaakko H;
Suo‐Palosaari, Maria H;
Kangas, Salla M;
Rahikkala, Elisa J;
Pokka, Tytti M‐L;
Moilanen, Jukka S;
Hinttala, Reetta M L;
Vieira, Päivi M;
Uusimaa, Johanna M

Publication type:

Article

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Published in:

British Journal of Haematology, 2019, v. 185, n. 2, p. 354, doi. 10.1111/bjh.15494

By:

Järviaho, Tekla;
Zachariadis, Vasilios;
Tesi, Bianca;
Chiang, Samuel;
Bryceson, Yenan T.;
Möttönen, Merja;
Niinimäki, Riitta;
Bang, Benedicte;
Rahikkala, Elisa;
Taylan, Fulya;
Uusimaa, Johanna;
Harila‐Saari, Arja;
Nordgren, Ann

Publication type:

Article

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Published in:

Molecular Syndromology, 2024, v. 15, n. 2, p. 149, doi. 10.1159/000534772

By:

Rahikkala, Elisa;
Väisänen, Taneli;
Ojala, Liisa;
Pohjola, Pia;
Toivonen, Minna;
Parkkola, Riitta;
Haanpää, Maria K.

Publication type:

Article

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416

By:

Hautakangas, Milla‐Riikka;
Widgren, Paula;
Korpelainen, Paavo;
Kangas, Salla M.;
Komulainen, Tuomas;
Vieira, Päivi;
Rahikkala, Elisa;
Pylkäs, Katri;
Tuominen, Hannu;
Kokkonen, Hannaleena;
Miinalainen, Ilkka;
Nadaf, Javad;
Majewski, Jacek;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837

By:

Kraatari-Tiri, Minna;
Haanpää, Maria K.;
Willberg, Tytti;
Pohjola, Pia;
Keski-Filppula, Riikka;
Kuismin, Outi;
Moilanen, Jukka S.;
Häkli, Sanna;
Rahikkala, Elisa

Publication type:

Article

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Published in:

Neurogenetics, 2013, v. 14, n. 1, p. 53, doi. 10.1007/s10048-012-0347-4

By:

Arning, Larissa;
Epplen, Jörg;
Rahikkala, Elisa;
Hendrich, Corinna;
Ludolph, Albert;
Sperfeld, Anne-Dorte

Publication type:

Article

Psychiatric symptoms in Salla disease.

Published in:

European Child & Adolescent Psychiatry, 2023, v. 32, n. 10, p. 2043, doi. 10.1007/s00787-022-02031-5

By:

Aulanko, Ida;
Rahikkala, Elisa;
Moilanen, Jukka

Publication type:

Article

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 2, p. 152, doi. 10.1080/13816810.2022.2045511

By:

Lähteenoja, Laura;
Häkli, Sanna;
Tuupanen, Sari;
Kuismin, Outi;
Palosaari, Tapani;
Rahikkala, Elisa;
Falck, Aura

Publication type:

Article

Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.

Published in:

Acta Ophthalmologica (1755375X), 2025, v. 103, n. 2, p. 152, doi. 10.1111/aos.16701

By:

Lähteenoja, Laura;
Palosaari, Tapani;
Tiirikka, Timo;
Haanpää, Maria;
Moilanen, Jukka;
Falck, Aura;
Rahikkala, Elisa

Publication type:

Article