Antônio Richieri‐Costa
Publications by Year
Research Areas
Cleft Lip and Palate Research, Craniofacial Disorders and Treatments, Hedgehog Signaling Pathway Studies, Congenital heart defects research, Ocular Disorders and Treatments
Most-Cited Works
- → A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis(2004)973 cited
- → Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes(2002)896 cited
- → Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly(1999)427 cited
- → Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination(2000)392 cited
- → Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia(2000)332 cited
- → 22q11.2 deletion syndrome in diverse populations(2017)165 cited
- → Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome(2009)142 cited
- → A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects(2013)122 cited
- → Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome(2007)101 cited
- → Down syndrome in diverse populations(2016)97 cited