Anna Dı́az-Font

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 397 citations

Life Sciences, Genetics, Molecular Genetics +14

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa et al. · Nature Genetics · 2009 · 268 citations

Medicine, Genetics, Ophthalmology +14

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn et al. · Nature Genetics · 2011 · 263 citations

Life Sciences, Genetics, Molecular Genetics +12

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

Víctor Hernández-Hernández, Priyanka Pravincumar, Anna Dı́az-Font et al. · Human Molecular Genetics · 2013 · 118 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

Mustafa M. Munye, Anna Dı́az-Font, Louise Ocaka et al. · PLoS Genetics · 2017 · 76 citations · Full text

Dentistry, Genetics, Molecular Genetics +17