HUMAN MUTATION Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449 Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449 Human Mutation, 43(12), 1921-1944. Wiley Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Molecular Autism, Vol 8, Iss 1, Pp 1-13 (2017) Molecular Autism Kolesnik, A M, Jones, E J H, Garg, S, Green, J, Charman, T, Johnson, M 2017, ' Early development of infants with Neurofibromatosis Type 1 : A case series ', Molecular Autism, vol. 8, no. 62 . https://doi.org/10.1186/s13229-017-0178-0 Kolesnik, A M, Jones, E J H, Garg, S, Green, J, Charman, T, Johnson, M H, Baron-Cohen, S, Begum-Ali, J, Bolton, P, Cheung, C, Dafner, L, Davies, K, Elsabbagh, M, Fernandes, J, Fish, L, Gammer, I, Greensmith, M, Gliga, T, Kalwarowsky, S, Liew, M, Pasco, G, Pickles, A, Ribeiro, H, Salomone, E, Taylor, C, Tucker, L, Wass, S, Burkitt-Wright, E, Evans, D G, Vassallo, G, Eelloo, J, West, S, Howard, E, Hupton, E, Huson, S, Lewis, L, Tricker, K, Dobbie, A, Drimer, R, Sharif, S M, Baralle, D, Redman, C, Sharif, S, Symth, C, Lam, W, Bradbury, A, Harrower, N, Quarrell, O, Bethell, H, Jones, R & Eden-Basis Team 2017, ' Early development of infants with neurofibromatosis type 1 : a case series ', Molecular Autism, vol. 8, no. 1, 62 . https://doi.org/10.1186/s13229-017-0178-0