Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

by Tuomo Mantere, Robert Winqvist, Saila Kauppila, Mervi Grip, Arja Jukkola-Vuorinen, Anna Tervasmäki, Katrin Rapakko, Katri Pylkäs
Published 2016-01-01

Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition

by Timo Kumpula, Anna Tervasmäki, Tuomo Mantere, Susanna Koivuluoma, Laura Huilaja, Kaisa Tasanen, Robert Winqvist, Richarda M. deVoer, Katri Pylkäs
Published 2020-11-01

Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims

by Lauri Holmström, Katri Pylkäs, Anna Tervasmäki, Juha Vähätalo, Katja Porvari, Lasse Pakanen, Kari S. Kaikkonen, Juha S. Perkiömäki, Antti M. Kiviniemi, Risto Kerkelä, Olavi Ukkola, Robert J. Myerburg, Heikki V. Huikuri, Juhani Junttila
Published 2021-05-01

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

by Tuomo Mantere, Anna Tervasmäki, Anna Nurmi, Katrin Rapakko, Saila Kauppila, Jiangbo Tang, Johanna Schleutker, Anne Kallioniemi, Jaana M. Hartikainen, Arto Mannermaa, Pentti Nieminen, Riitta Hanhisalo, Sini Lehto, Maija Suvanto, Mervi Grip, Arja Jukkola-Vuorinen, Maria Tengström, Päivi Auvinen, Anders Kvist, Åke Borg, Carl Blomqvist, Kristiina Aittomäki, Roger A. Greenberg, Robert Winqvist, Heli Nevanlinna, Katri Pylkäs
Published 2017-04-01