Daniela V. Luquetti

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Andrew T. Timberlake, Casey Griffin, Carrie L. Heike et al. · Nature Communications · 2021 · 88 citations · Full text

Dentistry, Genetics, Molecular Genetics +16

“Mandibulofacial dysostosis with microcephaly” caused by <i>EFTUD2</i> mutations: Expanding the phenotype

Daniela V. Luquetti, Anne Hing, Mark J. Rieder et al. · American Journal of Medical Genetics Part A · 2012 · 71 citations · Full text

Dentistry, Craniofacial Biology, Oral Radiology +17

A Phenotypic Assessment Tool for Craniofacial Microsomia

Craig B. Birgfeld, Daniela V. Luquetti, Alexander J. Gougoutas et al. · Plastic & Reconstructive Surgery · 2011 · 63 citations

Medicine, Maxillofacial Surgery, Craniofacial Surgery +11

Craniofacial Microsomia Overview

Carrie L. Heike, Daniela V. Luquetti, Anne Hing · 2014 · 56 citations

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

Fortunato Lonardo, Giancarlo Parenti, Daniela V. Luquetti et al. · European Journal of Medical Genetics · 2007 · 41 citations

Life Sciences, Genetics, Molecular Genetics +16