José M. Millán

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 486 citations

Sma Type, Clinical Epidemiology, Genetic Epidemiology +5

A randomized phase III trial comparing induction chemotherapy followed by chemoradiotherapy versus chemoradiotherapy alone as treatment of unresectable head and neck cancer

Ricardo Hitt, Juan J. Grau, Antonio López–Pousa et al. · Annals of Oncology · 2013 · 345 citations

Neck Cancer, Neoadjuvant Therapy, Radiation Therapy +11

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa et al. · Human Genetics · 2006 · 229 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

An Update on the Genetics of Usher Syndrome

José M. Millán, Elena Aller, Teresa Jaijo et al. · Journal of Ophthalmology · 2010 · 220 citations · Full text

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Avital Adato, Sarah Vreugde, Tarja Joensuu et al. · European Journal of Human Genetics · 2002 · 172 citations · Full text