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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Published in:
Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
By:
- Sabatella, Mariangela;
- Mantere, Tuomo;
- Waanders, Esmé;
- Neveling, Kornelia;
- Mensenkamp, Arjen R;
- van Dijk, Freerk;
- Hehir‐Kwa, Jayne Y;
- Derks, Ronnie;
- Kwint, Michael;
- O'Gorman, Luke;
- Tropa Martins, Madalena;
- Gidding, Corrie EM;
- Lequin, Maarten H;
- Küsters, Benno;
- Wesseling, Pieter;
- Nelen, Marcel;
- Biegel, Jacklyn A;
- Hoischen, Alexander;
- Jongmans, Marjolijn C;
- Kuiper, Roland P
Publication type:
Article
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Published in:
2022
By:
- Smits, Jeroen J.;
- de Bruijn, Suzanne E.;
- Lanting, Cornelis P.;
- Oostrik, Jaap;
- O'Gorman, Luke;
- Mantere, Tuomo;
- DOOFNL Consortium;
- van Dooren, M. F.;
- Kant, S. G.;
- de Gier, H. H. W.;
- Hoefsloot, E. H.;
- van der Schroeff, M. P.;
- Rotteveel, L. J. C.;
- Ropers, F. G.;
- Widdershoven, J. C. C.;
- Hof, J. R.;
- Vanhoutte, E. K.;
- Feenstra, I.;
- Kremer, H.;
- Lanting, C. P.
Publication type:
Correction Notice
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 465, doi. 10.1007/s00439-021-02336-6
By:
- Smits, Jeroen J.;
- de Bruijn, Suzanne E.;
- Lanting, Cornelis P.;
- Oostrik, Jaap;
- O'Gorman, Luke;
- Mantere, Tuomo;
- DOOFNL Consortium;
- van Dooren, M. F.;
- Kant, S. G.;
- de Gier, H. H. W.;
- Hoefsloot, E. H.;
- van der Schroeff, M. P.;
- Rotteveel, L. J. C.;
- Ropers, F. G.;
- Widdershoven, J. C. C.;
- Hof, J. R.;
- Vanhoutte, E. K.;
- Feenstra, I.;
- Kremer, H.;
- Lanting, C. P.
Publication type:
Article
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
Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1493
By:
- Kumpula, Timo;
- Tervasmäki, Anna;
- Mantere, Tuomo;
- Koivuluoma, Susanna;
- Huilaja, Laura;
- Tasanen, Kaisa;
- Winqvist, Robert;
- Voer, Richarda M.;
- Pylkäs, Katri
Publication type:
Article
A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
Published in:
American Journal of Hematology, 2024, v. 99, n. 4, p. 642, doi. 10.1002/ajh.27175
By:
- Levy, Brynn;
- Kanagal‐Shamanna, Rashmi;
- Sahajpal, Nikhil S.;
- Neveling, Kornelia;
- Rack, Katrina;
- Dewaele, Barbara;
- Olde Weghuis, Daniel;
- Stevens‐Kroef, Marian;
- Puiggros, Anna;
- Mallo, Mar;
- Clifford, Benjamin;
- Mantere, Tuomo;
- Hoischen, Alexander;
- Espinet, Blanca;
- Kolhe, Ravindra;
- Solé, Francesc;
- Raca, Gordana;
- Smith, Adam C.
Publication type:
Article
Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic Leukemia.
Published in:
Cancers, 2023, v. 15, n. 4, p. 1294, doi. 10.3390/cancers15041294
By:
- Valkama, Andriana;
- Vorimo, Sandra;
- Kumpula, Timo A.;
- Räsänen, Hannele;
- Savolainen, Eeva-Riitta;
- Pylkäs, Katri;
- Mantere, Tuomo
Publication type:
Article
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL).
Published in:
Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143376
By:
- Puiggros, Anna;
- Ramos-Campoy, Silvia;
- Kamaso, Joanna;
- de la Rosa, Mireia;
- Salido, Marta;
- Melero, Carme;
- Rodríguez-Rivera, María;
- Bougeon, Sandrine;
- Collado, Rosa;
- Gimeno, Eva;
- García-Serra, Rocío;
- Alonso, Sara;
- Moro-García, Marco Antonio;
- García-Malo, María Dolores;
- Calvo, Xavier;
- Arenillas, Leonor;
- Ferrer, Ana;
- Mantere, Tuomo;
- Hoischen, Alexander;
- Schoumans, Jacqueline
Publication type:
Article
FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.
Published in:
Breast Cancer Research & Treatment, 2017, v. 166, n. 1, p. 217, doi. 10.1007/s10549-017-4388-0
By:
- Kiiski, Johanna;
- Tervasmäki, Anna;
- Pelttari, Liisa;
- Khan, Sofia;
- Mantere, Tuomo;
- Pylkäs, Katri;
- Mannermaa, Arto;
- Tengström, Maria;
- Kvist, Anders;
- Borg, Åke;
- Kosma, Veli-Matti;
- Kallioniemi, Anne;
- Schleutker, Johanna;
- Bützow, Ralf;
- Blomqvist, Carl;
- Aittomäki, Kristiina;
- Winqvist, Robert;
- Nevanlinna, Heli
Publication type:
Article
Long-Read Sequencing Emerging in Medical Genetics.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00426
By:
- Mantere, Tuomo;
- Kersten, Simone;
- Hoischen, Alexander
Publication type:
Article
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
Published in:
PLoS Genetics, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pgen.1010889
By:
- Kumpula, Timo A.;
- Vorimo, Sandra;
- Mattila, Taneli T.;
- O'Gorman, Luke;
- Astuti, Galuh;
- Tervasmäki, Anna;
- Koivuluoma, Susanna;
- Mattila, Tiina M.;
- Grip, Mervi;
- Winqvist, Robert;
- Kuismin, Outi;
- Moilanen, Jukka;
- Hoischen, Alexander;
- Gilissen, Christian;
- Mantere, Tuomo;
- Pylkäs, Katri
Publication type:
Article
Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.
Published in:
International Journal of Cancer, 2019, v. 145, n. 8, p. 2070, doi. 10.1002/ijc.32234
By:
- Tervasmäki, Anna;
- Mantere, Tuomo;
- Eshraghi, Leila;
- Laurila, Niina;
- Tuppurainen, Hanna;
- Ronkainen, Veli‐Pekka;
- Koivuluoma, Susanna;
- Devarajan, Raman;
- Peltoketo, Hellevi;
- Pylkäs, Katri
Publication type:
Article
Rare missense mutations in <italic>RECQL</italic> and <italic>POLG</italic> associate with inherited predisposition to breast cancer.
Published in:
International Journal of Cancer, 2018, v. 142, n. 11, p. 2286, doi. 10.1002/ijc.31259
By:
- Tervasmäki, Anna;
- Mantere, Tuomo;
- Hartikainen, Jaana M.;
- Kauppila, Saila;
- Lee, Hang‐Mao;
- Koivuluoma, Susanna;
- Grip, Mervi;
- Karihtala, Peeter;
- Jukkola‐Vuorinen, Arja;
- Mannermaa, Arto;
- Winqvist, Robert;
- Pylkäs, Katri
Publication type:
Article
FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.
Published in:
International Journal of Cancer, 2016, v. 139, n. 12, p. 2760, doi. 10.1002/ijc.30394
By:
- Kiiski, Johanna I.;
- Fagerholm, Rainer;
- Tervasmäki, Anna;
- Pelttari, Liisa M.;
- Khan, Sofia;
- Jamshidi, Maral;
- Mantere, Tuomo;
- Pylkäs, Katri;
- Bartek, Jiri;
- Bartkova, Jirina;
- Mannermaa, Arto;
- Tengström, Maria;
- Kosma, Veli‐Matti;
- Winqvist, Robert;
- Kallioniemi, Anne;
- Aittomäki, Kristiina;
- Blomqvist, Carl;
- Nevanlinna, Heli
Publication type:
Article
Presence of Genetic Variants Among Young Men With Severe COVID-19.
Published in:
2020
By:
- van der Made, Caspar I.;
- Simons, Annet;
- Schuurs-Hoeijmakers, Janneke;
- van den Heuvel, Guus;
- Mantere, Tuomo;
- Kersten, Simone;
- van Deuren, Rosanne C.;
- Steehouwer, Marloes;
- van Reijmersdal, Simon V.;
- Jaeger, Martin;
- Hofste, Tom;
- Astuti, Galuh;
- Corominas Galbany, Jordi;
- van der Schoot, Vyne;
- van der Hoeven, Hans;
- Hagmolen of ten Have, Wanda;
- Klijn, Eva;
- van den Meer, Catrien;
- Fiddelaers, Jeroen;
- de Mast, Quirijn
Publication type:
journal article
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
Published in:
Familial Cancer, 2023, v. 22, n. 3, p. 291, doi. 10.1007/s10689-023-00327-2
By:
- Kumpula, Timo A.;
- Koivuluoma, Susanna;
- Soikkonen, Leila;
- Vorimo, Sandra;
- Moilanen, Jukka;
- Winqvist, Robert;
- Mantere, Tuomo;
- Kuismin, Outi;
- Pylkäs, Katri
Publication type:
Article
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
Published in:
Familial Cancer, 2023, v. 22, n. 1, p. 13, doi. 10.1007/s10689-022-00295-z
By:
- Koivuluoma, Susanna;
- Vorimo, Sandra;
- Mattila, Tiina M.;
- Tervasmäki, Anna;
- Kumpula, Timo;
- Kuismin, Outi;
- Winqvist, Robert;
- Moilanen, Jukka;
- Mantere, Tuomo;
- Pylkäs, Katri
Publication type:
Article
Mutation of TP53, translocation analysis and immunohistochemical expression of MYC, BCL-2 and BCL-6 in patients with DLBCL treated with R-CHOP.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33230-3
By:
- Peroja, Pekka;
- Pedersen, Mette;
- Mantere, Tuomo;
- Nørgaard, Peter;
- Peltonen, Jenni;
- Haapasaari, Kirsi-Maria;
- Böhm, Jan;
- Jantunen, Esa;
- Turpeenniemi-Hujanen, Taina;
- Rapakko, Katrin;
- Karihtala, Peeter;
- Soini, Ylermi;
- Vasala, Kaija;
- Kuittinen, Outi
Publication type:
Article
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
Published in:
PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005816
By:
- Mantere, Tuomo;
- Winqvist, Robert;
- Kauppila, Saila;
- Grip, Mervi;
- Jukkola-Vuorinen, Arja;
- Tervasmäki, Anna;
- Rapakko, Katrin;
- Pylkäs, Katri
Publication type:
Article

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