Danilo Moretti‐Ferreira

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

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

Renata Lúcia Leite Ferreira de Lima, Sarah A. Hoper, Michella Ghassibe‐Sabbagh et al. · Genetics in Medicine · 2009 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Gustavo Henrique Apolinário Vieira, Jayson Rodriguez, Paulina Carmona-Mora et al. · European Journal of Human Genetics · 2011 · 57 citations

Life Sciences, Molecular Genetics, Neurology +8

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Medicine, Molecular Genetics, Dermatopathology +9

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

Muhammad Hashim Raza, Carlos Eduardo Frigério Domingues, Ronald L. Webster et al. · European Journal of Human Genetics · 2015 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12