Antônio Richieri‐Costa

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Agnes L. Nishimura, Miguel Mitne‐Neto, Helga Cristina Almeida da Silva et al. · The American Journal of Human Genetics · 2004 · 970 citations · Full text

Neurodegenerative Diseases, Protein Function, Amyotrophic Lateral Sclerosis +6

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 891 citations · Full text

Developmental Anomaly, Popliteal Pterygium Syndromes, Mendelian Disorder +6

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Deeann Wallis, Erich Roessler, Ute Hehr et al. · Nature Genetics · 1999 · 427 citations

Developmental Biology, Genetic Disorder, Genetics +4

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Karen W. Gripp, David Wotton, Michael C. Edwards et al. · Nature Genetics · 2000 · 390 citations

Developmental Biology, Molecular Neuroscience, Neurogenomics +11

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Koji Suzuki, Diane Hu, Tania Bustos et al. · Nature Genetics · 2000 · 329 citations

Cleft Lip/palate-ectodermal Dysplasia, Molecular Virology, Pathogenesis +8