MD, PhD, Adjunct professor Kristiina Avela - UTU Research Portal

Kristiina Avela
MD, PhD, Adjunct professor

- Clinical Lecturer,
Institute of Biomedicine (Faculty of Medicine)

kristiina.avela@utu.fi

+358 29 450 3543

+358 50 303 7555

ORCID identifier: https://orcid.org/0009-0005-2101-2929

Publications

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction (2025)
- Human Molecular Genetics
Lehtonen, Johanna; Hakonen, Anna H.; Hassinen, Antti; Luras, Sanne Iversen; Kaustio, Meri; Glumoff, Virpi; Hinrichsen, Francisca; Li, Weiwei; Sulonen, Anna-Maija; Wickman, Sanna; Almusa, Henrikki; Polso, Minttu; Palomäki, Maarit; Kivirikko, Sirpa; Avela, Kristiina; Heiskanen, Kaarina; Pietiäinen, Vilja; Aittomäki, Kristiina; Saarela, Janna
(A1 Refereed original research article in a scientific journal)
Liikakasvuisuutta aiheuttavat oireyhtymät ovat moninaisia (2025)
- Lääkärilehti
Strang-Karlsson, Sonja; Avela, Kristiina
(A2 Refereed review article in a scientific journal )
Miten sairaudet periytyvät (2025) Lääketieteellinen genetiikka Avela, Kristiina
(D2 Article in a professional compilation book)
Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features (2024)
- Pediatric Dermatology
Hyvönen, Hanna; Kettunen, Kaisa; Avela, Kristiina; Kivirikko, Sirpa; Jeskanen, Leila; Suominen, Sinikka; Salminen, Päivi; Hannula‐Jouppi, Katariina
(A1 Refereed original research article in a scientific journal)
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders (2024)
- Scientific Reports
Schrauwen Isabelle, Rajendran Yasmin, Acharya Anushree, Öhman Susanna, Arvio Maria, Paetau Ritva, Siren Auli, Avela Kristiina, Granvik Johanna, Leal Suzanne M., Määttä Tuomo, Kokkonen Hannaleena, Järvelä Irma
(A1 Refereed original research article in a scientific journal)
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. (2023)
- Human Genomics
Jacquemin Valerie, Versbraegen Nassim, Duerinckx Sarah, Massart Annick, Soblet Julie, Perazzolo Camille, Deconinck Nicolas, Brischoux-Boucher Elise, De Leener Anne, Revencu Nicole, Janssens Sandra, Moorgat Stèphanie, Blaumeiser Bettina, Avela Kristiina, Touraine Renaud, Jaoude Imad Abou, Keymolen Kathelijn, Saugier-Veber Pascale, Lenaerts Tom, Abramowicz Marc, Pirson Isabelle
(A1 Refereed original research article in a scientific journal)