Kristiina Avela

Publications

Research output per year 2001 2015 2017 2019 2020 2021 2023 2024 2024

• 26 Article

Research output per year

Research output per year

Search results

• 2024

  Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

  Hyvönen, H., Kettunen, K., Avela, K., Kivirikko, S., Jeskanen, L., Suominen, S., Salminen, P. & Hannula-Jouppi, K., 7 Dec 2024, In: Pediatric Dermatology. 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

  Schrauwen, I., Rajendran, Y., Acharya, A., Öhman, S., Arvio, M., Paetau, R., Siren, A., Avela, K., Granvik, J., Leal, S. M., Määttä, T., Kokkonen, H. & Järvelä, I., 2024, In: Scientific Reports. 14, 1, 7 p., 11239.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2023

  Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

  Jacquemin, V., Versbraegen, N., Duerinckx, S., Massart, A., Soblet, J., Perazzolo, C., Deconinck, N., Brischoux-Boucher, E., De Leener, A., Revencu, N., Janssens, S., Moorgat, S., Blaumeiser, B., Avela, K., Touraine, R., Abou Jaoude, I., Keymolen, K., Saugier-Veber, P., Lenaerts, T. & Abramowicz, M. & 1 others, Pirson, I., 2 Mar 2023, In: Human Genomics. 17, 1, 14 p., 16.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Jansen de Vries syndrome: Report of four new patients and review of the literature

  Tuiskula, A., Rahikkala, E., Kero, A., Haanpää, M. K. & Avela, K., Aug 2023, In: European Journal of Medical Genetics. 66, 8, 6 p., 104807.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

  Majander, A., Sankila, E.-M., Falck, A., Vasara, L. K., Seitsonen, S., Kulmala, M., Haavisto, A.-K., Avela, K. & Turunen, J. A., Mar 2023, In: Acta Ophthalmologica. 101, 2, p. 215-221 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2022

  Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

  Ignatius, E., Puosi, R., Palomäki, M., Forsbom, N., Pohjanpelto, M., Alitalo, T., Anttonen, A.-K., Avela, K., Haataja, L., Carroll, C. J., Lönnqvist, T. & Isohanni, P., Mar 2022, In: European Journal of Paediatric Neurology. 37, p. 1-7 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2021

  A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

  Narhi, A., Fernandes, A., Toiviainen-Salo, S., Harris, J., McInerney-Leo, A., Lazarus, S., Avela, K. & Duncan, E., Aug 2021, In: American Journal of Medical Genetics. Part A. 185, 8, p. 2477-2481 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4

  Strang-Karlsson, S., von Willebrand, M., Avela, K. & Wallgren-Pettersson, C., Jun 2021, In: American journal of medical genetics. Part A. 185, 6, p. 1875-1882 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2020

  18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

  Kahila, H., Marjonen, H., Auvinen, P., Avela, K., Riikonen, R. & Kaminen-Ahola, N., Apr 2020, In: Molecular Genetics & Genomic Medicine. 8, 4, 9 p., 1192.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Mowat-Wilson syndrome: growth charts

  Ivanovski, I., Djuric, O., Broccoli, S., Caraffi, S. G., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Clayton-Smith, J., Cocco, I., Cordelli, D. M., Cuturilo, G., Di Pisa, V., Garcia, J. D., Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C. & Inaba, M. & 33 others, Iodice, A., Nielsen, J. E. K., Kuburovic, V., Lazalde-Medina, B., Malbora, B., Mizuno, S., Moldovan, O., Moller, R. S., Muschke, P., Otelli, V., Pantaleoni, C., Piscopo, C., Poch-Olive, M. L., Prpic, I., Reina, P. M., Raviglione, F., Ricci, E., Scarano, E., Simonte, G., Smigiel, R., Tanteles, G., Tarani, L., Trimouille, A., Valera, E. T., Vergano, S. S., Writzl, K., Callewaert, B., Savasta, S., Street, M. E., Iughetti, L., Bernasconi, S., Rossi, P. G. & Garavelli, L., 15 Jun 2020, In: Orphanet journal of rare diseases. 15, 1, 12 p., 151.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome

  Hakonen, A. H., Lehtonen, J., Kivirikko, S., Keski-Filppula, R., Moilanen, J., Kivisaari, R., Almusa, H., Jakkula, E., Saarela, J., Avela, K. & Aittomäki, K., Nov 2020, In: American journal of medical genetics. Part A. 182, 11, p. 2605-2610 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2019

  Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

  Polla, D. L., Rahikkala, E., Bode, M. K., Määttä, T., Varilo, T., Loman, T., Philips, A. K., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. P. M., Kuismin, O., van Bokhoven, H. & Järvelä, I., Aug 2019, In: European Journal of Human Genetics. 27, 8, p. 1235-1243 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Rare SUZ12 variants commonly cause an overgrowth phenotype

  CAUSES Study, Cyrus, S. S., Cohen, A. S. A., Avela, K. & Gibson, W. T., Dec 2019, In: American journal of medical genetics. Part C, Seminars in medical genetics. 181, 4, p. 532-547 16 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified

  Avela, K., Salonen-Kajander, R., Laitinen, A., Ramsden, S., Barton, S. & Rudanko, S.-L., Dec 2019, In: Acta ophthalmologica. 97, 8, p. 805-814 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2018

  A founder mutation in CERKL is a major cause of retinal dystrophy in Finland

  Avela, K., Sankila, E.-M., Seitsonen, S., Kuuluvainen, L., Barton, S., Gillies, S. & Aittomäki, K., Mar 2018, In: Acta Ophthalmologica. 96, 2, p. 183-191 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2017

  Exploring genome-wide DNA methylation patterns in Aicardi syndrome

  Piras, I. S., Mills, G., Llaci, L., Naymik, M., Ramsey, K., Belnap, N., Balak, C. D., Jepsen, W. M., Szelinger, S., Siniard, A. L., Lewis, C. R., LaFleur, M., Richholt, R. F., De Both, M. D., Avela, K., Rangasamy, S., Craig, D. W., Narayanan, V., Jarvela, I. & Huentelman, M. J. & 1 others, Schrauwen, I., Nov 2017, In: Epigenomics. 9, 11, p. 1373-1386 14 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Poika, joka ei tunnistanut elefanttia : tapauksen ratkaisu

  Vasara, K., Avela, K. & Suomela, J., 2017, In: Suomen lääkärilehti. 72, 6, p. 362-364 3 p.

  Research output: Contribution to journal › Article › Professional

  Open Access

  File
• 2016

  Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

  Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H. J., Krapels, I. P. C., Claes, G. R. F., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2015

  Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

  Mantere, T., Haanpaa, M., Hanenberg, H., Schleutker, J., Kallioniemi, A., Kahkonen, M., Parto, K., Avela, K., Aittomaki, K., von Koskull, H., Hartikainen, J. M., Kosma, V.-M., Laasanen, S.-L., Mannermaa, A., Pylkas, K. & Winqvist, R., Jul 2015, In: Clinical Genetics. 88, 1, p. 68-73 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

  Gripp, K. W., Robbins, K. M., Sobreira, N. L., Witmer, P. D., Bird, L. M., Avela, K., Makitie, O., Alves, D., Hogue, J. S., Zackai, E. H., Doheny, K. F., Stabley, D. L. & Sol-Church, K., Feb 2015, In: American Journal of Medical Genetics. Part A. 167A, 2, p. 271-281 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2014

  Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant

  Avela, K., Hirvinen, H., Ben Amor, M. & Rauch, F., 2014, In: European Journal of Medical Genetics. 57, 11-12, p. 617-620 4 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2013

  The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

  Polvi, A., Linturi, H., Varilo, T., Anttonen, A.-K., Byrne, M., Fokkema, I. F. A. C., Almusa, H., Metzidis, A., Avela, K., Aula, P., Kestila, M. & Muilu, J., Nov 2013, In: Human mutation. 34, 11, p. 1458-1466 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2012

  Frontotemporal pachygyria-Two new patients

  Avela, K., Toiviainen-Salo, S.-M., Karttunen-Lewandowski, P., Kauria, L., Valanne, L. & Salonen-Kajander, R., Dec 2012, In: European Journal of Medical Genetics. 55, 12, p. 753-757 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2003

  Genomic structure and novel mutations in the TRIM37 gene in Mulibrey nanism

  Hamalainen, R., Avela, K., Kallijarvi, J., Lipsanen-Nyman, M. & Lehesjoki, A., Nov 2003, In: American Journal of Human Genetics. 73, 5, p. 578-578 1 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 2002

  The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder

  Kallijarvi, J., Avela, K., Lipsanen-Nyman, M., Ulmanen & Lehesjoki, A., May 2002, In: American Journal of Human Genetics. 70, 5, p. 1215-1228 14 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 2001

  Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer

  Monni, O., Barlund, M., Mousses, S., Kononen, J., Sauter, G., Heiskanen, M., Paavola, P., Avela, K., Chen, Y., Bittner, M. & Kallioniemi, A., 8 May 2001, In: Proceedings of the National Academy of Sciences of the United States of America. 98, 10, p. 5711-5716 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review