Ivana Matera

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Alice S. Brooks, Aida M. Bertoli‐Avella, Grzegorz Burzynski et al. · The American Journal of Human Genetics · 2005 · 148 citations · Full text

Developmental Anomaly, Developmental Biology, Neurogenomics +10

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

Tiziana Bachetti, Ivana Matera, Silvia Borghini et al. · Human Molecular Genetics · 2005 · 118 citations · Full text

Genetics, Distinct Pathogenetic Mechanisms, Transcriptional Regulation +18

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

Yin Luo, Isabella Ceccherini, Barbara Pasini et al. · Human Molecular Genetics · 1993 · 93 citations

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Hongsheng Gui, Duco Schriemer, William Cheng et al. · Genome biology · 2017 · 91 citations · Full text

Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat

Isabella Ceccherini, A. L. Zhang, Ivana Matera et al. · Human Molecular Genetics · 1995 · 81 citations