Jacopo Celli

LOVD v.2.0: the next generation in gene variant databases

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel et al. · Cell · 1999 · 715 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 688 citations · Full text

Life Sciences, Genetics, Neuroscience +12

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Hans van Bokhoven, Jacopo Celli, Hülya Kayserili et al. · Nature Genetics · 2000 · 270 citations

Life Sciences, Genetics, Molecular Genetics +7