Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Elke de Boer, Alain Verloès(Inserm), Mridul Johari(University of Helsinki), Heba Morsy(National Hospital for Neurology and Neurosurgery), Michèl A.A.P. Willemsen(Radboud University Nijmegen), Elisa Benetti(University of Siena), Bruno Dallapiccola(Bambino Gesù Children's Hospital), Enzo Cohen(Inserm), Rolph Pfundt(Radboud University Nijmegen), Isabelle Nelson(University of Bonn), Rick de Reuver(Radboud University Nijmegen), Michael Kwint(Radboud University Nijmegen), Christian Gilissen(Radboud University Nijmegen), Peter N. Robinson(Jackson Laboratory), Rita Horváth(University of Cambridge), Lisenka E.L.M. Vissers(Radboud University Nijmegen), Daniel Daniš(Jackson Laboratory), Leslie Matalonga(Centre for Genomic Regulation), Lennart Johanson(University Medical Center Groningen), Joeri K. van der Velde(University Medical Center Groningen), Iris te Paske(Radboud University Nijmegen), Aurélien Trimouille(Hôpital Pellegrin), Jana Vandrovcová(Texas Tech University), Siddharth Banka(University of Manchester), Antonio Vitobello(Inserm), Andrea Ciolfi(Bambino Gesù Children's Hospital), Wouter Steyaert(Ghent University Hospital), Fei Gao(University of Cambridge), Ana Töpf(NIHR Newcastle Biomedical Research Centre), Bert B.A. de Vries(Radboud University Nijmegen), Anne‐Sophie Denommé‐Pichon(Inserm), Marco Savarese(Folkhälsans Forskningscentrum), Giorgio Casari(IRCCS Ospedale San Raffaele), Ida Paramonov(Universitat Pompeu Fabra), Steven Laurie(Centre for Genomic Regulation), Birte Zurek(University of Cologne), Tjitske Kleefstra(Radboud University Nijmegen), Kristin M. Abbot(University Medical Center Groningen), Shuang� Li(Northwest A&F University), Jill Clayton‐Smith(Newcastle University), Isabel Cuesta(Instituto de Salud Carlos III), Burcu Yaldız(Radboud University Nijmegen)
Cited by 3
Related Papers
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
|Journal of Medical Genetics|1997|1.2k
Ensembl 2012
|Nucleic Acids Research|2011|839