Robert B. Hufnagel

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 200 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B. Hufnagel, Gavin Arno, Nichole D. Hein et al. · Journal of Medical Genetics · 2014 · 120 citations · Full text

Neurog2 controls the leading edge of neurogenesis in the mammalian retina

Robert B. Hufnagel, Tien Le, Ashley L. Riesenberg et al. · Developmental Biology · 2010 · 109 citations

Ganglion Cell, Photoreceptor Cell, Developmental Biology +11

Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

Artur V. Cideciyan, Robert B. Hufnagel, Joseph Carroll et al. · Human Gene Therapy · 2013 · 108 citations · Full text

Ocular Disease, Developmental Biology, Gene Augmentation Therapy +10