Juliana F. Mazzeu

<i>WNT5A</i> mutations in patients with autosomal dominant Robinow syndrome

Anthony Person, Soraya Beiraghi, Christine M. Sieben et al. · Developmental Dynamics · 2009 · 245 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Fernanda Sarquis Jehee et al. · Cytogenetic and Genome Research · 2006 · 125 citations

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

Knockout Mouse, Developmental Biology, Genetic Disorder +6

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2016 · 108 citations · Full text

Allelic Variant, −1 Frameshift, Developmental Biology +8