Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Souche, Erika*" or (type exact bookEditor and editor="Souche, Erika*") Add to list Journal Article A1 open access Recommendations for whole genome sequencing in diagnostics for rare diseases Erika Souche, Sergi Beltran, Erwin Brosens, John W. Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle van Gijn, et al. (2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30. p.1017-1021 Add to list Journal Article A1 ALG1-CDG: clinical and molecular characterization of 39 unreported patients Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, et al. (2016) HUMAN MUTATION. 37(7). p.653-660 Add to list Journal Article A1 The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects Yaojuan Jia, Jacoba J Louw, Jeroen Breckpot, Bert Callewaert (UGent) , Catherine Barrea, Yves Sznajer, Marc Gewillig, Erika Souche, Luc Dehaspe, Joris Robert Vermeesch, et al. (2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(8). p.1822-1829