Developing a policy for paediatric biobanks: principles for good practice

by Hens, Kristien, Van El, Carla E, Borry, Pascal, Cambon-Thomsen, Anne, Cornel, Martina C, Forzano, Francesca, Lucassen, Anneke, Patch, Christine, Tranebjaerg, Lisbeth, Vermeulen, Eric, Salvaterra, Elena, Tibben, Aad, Dierickx, Kris
Published 2013

A specific mutation in TBL1XR1 causes Pierpont syndrome

by Heinen, Charlotte A, Jongejan, Aldo, Watson, Peter J, Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H, Pierpont, Mary Ella, Schaefer, G Bradley, Stewart, Fiona, van Trotsenburg, A S Paul, Fliers, Eric, Schwabe, John W R, Hennekam, Raoul C
Published 2016

Responsible implementation of expanded carrier screening

by Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut
Published 2016

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

by Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W, Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S, Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C, Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G, Cornel, Martina C
Published 2015

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

by Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, Monica, Matteo della, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe
Published 2011

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

by Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M
Published 2013