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Personal profile

External positions

PhD Student, Folkhälsan Research Center

1 Dec 2017 → …

International and National Collaboration Publications and projects within past five years.

Publications 2016 2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Sagath, L., Lehtokari, V-L., Välipakka, S., Udd, B., Wallgren-Pettersson, C., Pelin, K. & Kiiski, K., 2018, In : Journal of Neuromuscular Diseases. 5, 3, p. 307-314 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Sainio, M. T., Välipakka, S., Rinaldi, B., Lapatto, H., Paetau, A., Ojanen, S., Brilhante, V., Jokela, M., Huovinen, S., Auranen, M., Palmio, J., Friant, S., Ylikallio, E., Udd, B. & Tyynismaa, H., 4 Dec 2018, In : Journal of Neurology. p. 353-360 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Copy number variation analysis increases the diagnostic yield in muscle diseases

Välipakka, S., Savarese, M., Johari, M., Sagath, L., Arumilli, M., Kiiski, K., Saenz, A., Lopez de Munain, A., Cobo, A-M., Pelin, K., Udd, B. & Hackman, P., Dec 2017, In : Neurology Genetics. 3, 6, 5 p., 204.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas

Kampjarvi, K., Makinen, N., Mehine, M., Valipakka, S., Uimari, O., Pitkanen, E., Heinonen, H-R., Heikkinen, T., Tolvanen, J., Ahtikoski, A., Frizzell, N., Sarvilinna, N., Sjoberg, J., Butzow, R., Aaltonen, L. A. & Vahteristo, P., 14 Jun 2016, In : British Journal of Cancer. 114, 12, p. 1405-1411 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Activities 2016 2016

  • 1 Supervision of other thesis (Master's, Licentiate)

Detection of copy number variants from targeted gene panel sequence data in muscle dystrophies

Mridul Johari (Co-supervisor)
Mar 2016Jun 2017

Activity: Examination typesSupervision of other thesis (Master's, Licentiate)