Sandra C. de Castro

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria Castleman, Leila Romio, Rahul Chodhari et al. · The American Journal of Human Genetics · 2009 · 341 citations · Full text

Developmental Biology, Genetics, Pathology +4

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319 , a novel gene involved in neuronal migration

Silvia Paracchini, Ankur Thomas, Sandra C. de Castro et al. · Human Molecular Genetics · 2006 · 274 citations · Full text

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

Daniel Kelberman, Sandra C. de Castro, Shuwen Huang et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 179 citations · Full text

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Daniel Toddie-Moore, Alexandros Onoufriadis, Amelia Shoemark et al. · The American Journal of Human Genetics · 2013 · 171 citations · Full text

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

A Rajab, Daniel Kelberman, Sandra C. de Castro et al. · Human Molecular Genetics · 2008 · 103 citations · Full text

Developmental Anomaly, Sensorineural Hearing Loss, Developmental Biology +11