| 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 | 207 | 2015 |
| 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 | 124 | 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 | 117 | 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 | 113 | 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 | 108 | 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 | 106 | 2013 |
| 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 | 96 | 2015 |
| 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 | 92 | 2016 |
| 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 | 83 | 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 | 75 | 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 | 65 | 2008 |
| 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, 1117-1128, 2012 | 56 | 2012 |
| 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 | 52 | 2019 |
| Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis P Magini, DJ Smits, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ... The American Journal of Human Genetics 105 (4), 689-705, 2019 | 50 | 2019 |
| 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 | 49 | 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 | 45 | 2018 |
| 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 | 43 | 2015 |
| Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN) RJ Richardson, JK Fink, P Glynn, RB Hufnagel, GF Makhaeva, ... Advances in Neurotoxicology 4, 1-78, 2020 | 39 | 2020 |
| Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission H Guo, Y Li, L Shen, T Wang, X Jia, L Liu, T Xu, M Ou, K Hoekzema, H Wu, ... Science advances 5 (9), eaax2166, 2019 | 38 | 2019 |
| Cone photoreceptor structure in patients with X-linked cone dysfunction and red-green color vision deficiency EJ Patterson, M Wilk, CS Langlo, M Kasilian, M Ring, RB Hufnagel, ... Investigative ophthalmology & visual science 57 (8), 3853-3863, 2016 | 35 | 2016 |
Joseph CarrollMedical College of Wisconsin在 mcw.edu 的电子邮件经过验证
