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2011
Mark Searching for the Missing Heritability of Complex Diseases
Hemminki, Kari ^LU ; Försti, Asta ^LU ; Houlston, Richard and Bermejo, Justo Lorenzo (2011) In Human Mutation 32(2). p.259-262
- Contribution to journal › Letter
Mark Mutation Update for the PORCN Gene
Lombardi, Maria Paola ; Bulk, Saskia ; Celli, Jacopo ; Lampe, Anne ; Gabbett, Michael T. ; Ousager, Lillian Bomme ; van der Smagt, Jasper J. ; Soller, Maria ^LU ; Stattin, Eva-Lena and Mannens, Marcel A. M. M. , et al. (2011) In Human Mutation 32(7). p.723-728
- Contribution to journal › Article
Mark Performance of mutation pathogenicity prediction methods on missense variants.
Thusberg, Janita ; Olatubosun, Ayodeji and Vihinen, Mauno ^LU (2011) In Human Mutation 32(4). p.358-368
- Contribution to journal › Article
Mark LOVD v.2.0 : the next generation in gene variant databases
Fokkema, Ivo F A C ; Taschner, Peter E M ; Schaafsma, Gerard C P ^LU ; Celli, J ; Laros, Jeroen F J and den Dunnen, Johan T (2011) In Human Mutation 32(5). p.63-557
- Contribution to journal › Article
2010
Mark Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
Johnston, Jennifer J. ; Sapp, Julie C. ; Turner, Joyce T. ; Amor, David ; Aftimos, Salim ; Aleck, Kyrieckos A. ; Bocian, Maureen ; Bodurtha, Joann N. ; Cox, Gerald F. and Curry, Cynthia J. , et al. (2010) In Human Mutation 31(10). p.1142-1154
- Contribution to journal › Article
Mark Performance of protein stability predictors.
Khan, Sofia and Vihinen, Mauno ^LU (2010) In Human Mutation 31(6). p.675-684
- Contribution to journal › Article
Mark The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
Howard, Heather J ; Horaitis, Ourania ; Cotton, Richard G H ; Vihinen, Mauno ^LU ; Dalgleish, Raymond ; Robinson, Peter ; Brookes, Anthony J ; Axton, Myles ; Hoffmann, Robert and Tuffery-Giraud, Sylvie (2010) In Human Mutation 31(3). p.366-367
- Contribution to journal › Article
Mark Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg, Åke ^LU ; Haile, Robert W ; Malone, Kathleen E ; Capanu, Marinela ; Diep, Ahn ; Törngren, Therese ^LU ; Teraoka, Sharon ; Begg, Colin B ; Thomas, Duncan C and Concannon, Patrick , et al. (2010) In Human Mutation 31. p.1200-1240
- Contribution to journal › Article
Mark How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Kohonen-Corish, Maija R J ; Al-Aama, Jumana Y ; Auerbach, Arleen D ; Axton, Myles ; Barash, Carol Isaacson ; Bernstein, Inge ; Béroud, Christophe ; Burn, John ; Cunningham, Fiona and Cutting, Garry R , et al. (2010) In Human Mutation 31(12). p.1374-1381
- Contribution to journal › Article
2009
Mark Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
Visser, W Edward ; Jansen, Jurgen ; Frieserna, Edith C ; Kester, Monique H. A. ; Mancilla, Edna ; Lundgren, Johan ^LU ; van der Knaap, Marjo S. ; Lunsing, Roelineke J. ; Brouwar, Oebele F. and Visser, Theo J. (2009) In Human Mutation 30(1). p.29-38
- Contribution to journal › Article

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