Robert B Hufnagel
Robert B Hufnagel
Staff Clinician, National Eye Institute (NEI/NIH)
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ...
Nature genetics 47 (8), 926-932, 2015
Neurog2 controls the leading edge of neurogenesis in the mammalian retina
RB Hufnagel, TT Le, AL Riesenberg, NL Brown
Developmental biology 340 (2), 490-503, 2010
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
AV Cideciyan, RB Hufnagel, J Carroll, A Sumaroka, X Luo, SB Schwartz, ...
Human gene therapy 24 (12), 993-1006, 2013
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
RB Hufnagel, G Arno, ND Hein, J Hersheson, M Prasad, Y Anderson, ...
Journal of medical genetics 52 (2), 85-94, 2015
The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1
CE Prada, RB Hufnagel, TR Hummel, AM Lovell, RJ Hopkin, HM Saal, ...
The Journal of pediatrics 167 (4), 851-856. e1, 2015
Math5 expression and function in the central auditory system
SM Saul, JA Brzezinski IV, RA Altschuler, SE Shore, DD Rudolph, ...
Molecular and Cellular Neuroscience 37 (1), 153-169, 2008
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
GM Mirzaa, V Conti, AE Timms, CD Smyser, S Ahmed, M Carter, S Barnett, ...
The Lancet Neurology 14 (12), 1182-1195, 2015
Gene therapy for Leber congenital amaurosis: advances and future directions
RB Hufnagel, ZM Ahmed, ZM Corrêa, RA Sisk
Graefe's Archive for Clinical and Experimental Ophthalmology 250 (8), 1117-1128, 2012
A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome
SRF Twigg, RB Hufnagel, KA Miller, Y Zhou, SJ McGowan, J Taylor, ...
The American Journal of Human Genetics 98 (6), 1256-1265, 2016
Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
A George, DJ Zand, RB Hufnagel, R Sharma, YV Sergeev, JM Legare, ...
The American Journal of Human Genetics 99 (6), 1388-1394, 2016
Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction
KN Weaver, KEN Watt, RB Hufnagel, JN Acedo, LL Linscott, KL Sund, ...
The American Journal of Human Genetics 96 (5), 765-774, 2015
Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenes
RB Hufnagel, AN Riesenberg, SM Saul, NL Brown
Molecular and Cellular Neuroscience 36 (4), 435-448, 2007
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
CT Gordon, KN Weaver, RM Zechi-Ceide, EC Madsen, ALP Tavares, ...
The American Journal of Human Genetics 96 (4), 519-531, 2015
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene
RB Hufnagel, SL Zimmerman, LA Krueger, PL Bender, ZM Ahmed, ...
American Journal of Medical Genetics Part A 170 (2), 487-491, 2016
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
MM Bryan, NJ Tolman, KL Simon, M Huizing, RB Hufnagel, BP Brooks, ...
Molecular genetics and metabolism 120 (4), 378-383, 2017
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice
Z Li, Y Peng, RB Hufnagel, YC Hu, C Zhao, LF Queme, Z Khuchua, ...
Human molecular genetics 26 (19), 3776-3791, 2017
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks
JM Bryan, TD Fufa, K Bharti, BP Brooks, RB Hufnagel, DM McGaughey
Human molecular genetics 27 (19), 3325-3339, 2018
PNPLA6-related disorders
M Synofzik, RB Hufnagel, S Züchner
GeneReviews®[Internet], 2015
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, ...
PLoS genetics 15 (5), e1008130, 2019
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