Roseli Maria Zechi‐Ceide

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Francine Pinheiro Favaro, Lucas Alvizi, Roseli Maria Zechi‐Ceide et al. · The American Journal of Human Genetics · 2013 · 123 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +16

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Stephen R.F. Twigg, Christian Babbs, Marijke E.P. van den Elzen et al. · Human Molecular Genetics · 2013 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Christopher T. Gordon, Florence Petit, Peter M. Kroisel et al. · The American Journal of Human Genetics · 2013 · 74 citations · Full text

Life Sciences, Genetics, Otolaryngology +4

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Siulan Vendramini et al. · Clinical Dysmorphology · 2006 · 66 citations

Dentistry, Craniofacial Biology, Human Development +16