Robert B Hufnagel
Robert B Hufnagel
Staff Clinician, National Eye Institute (NEI/NIH)
Adresse e-mail validée de nih.gov
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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
1092015
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
752010
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
692013
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
652015
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
652015
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
642015
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
542008
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
522015
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
482012
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
472016
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
452016
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
322015
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
312007
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
252015
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
202016
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
192017
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
172017
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
162018
PNPLA6-related disorders
M Synofzik, RB Hufnagel, S Züchner
GeneReviews®[Internet], 2015
162015
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
152019
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