Robert B Hufnagel

Robert B Hufnagel

National Institutes of Health - Bethesda / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4381045
person_outline Robert B Hufnagel's MOST POPULAR ARTICLES
1-) Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ...Nature genetics 47 (8), 926-932, 20151722015
2-) TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestationsJA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...The American Journal of Human Genetics 97 (6), 922-932, 20151142015
3-) Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromesRB Hufnagel, G Arno, ND Hein, J Hersheson, M Prasad, Y Anderson, ...Journal of medical genetics 52 (2), 85-94, 20151122015
4-) The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1CE Prada, RB Hufnagel, TR Hummel, AM Lovell, RJ Hopkin, HM Saal, ...The Journal of pediatrics 167 (4), 851-856. e1, 20151192015
5-) Neurog2 controls the leading edge of neurogenesis in the mammalian retinaRB Hufnagel, TT Le, AL Riesenberg, NL BrownDevelopmental biology 340 (2), 490-503, 20101122010