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Page 1
Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.
Abuzaitoun RO, Branham KH, Lacy GD, Hufnagel RB, Kumar MM, Koskenvuo JW, Tuupanen S, Durham T, Zhao PY, Abalem MF, Andrews CA, Schlegel D, Khan NW, Fahim AT, Heckenlively JR, Musch DC, Jayasundera KT. Abuzaitoun RO, et al. Among authors: hufnagel rb. JAMA Ophthalmol. 2024 Nov 7;142(12):1150-6. doi: 10.1001/jamaophthalmol.2024.4696. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39509105
Using human sequencing to guide craniofacial research.
Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW. Liegel RP, et al. Among authors: hufnagel rb. Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21. Genesis. 2019. PMID: 30375152 Free PMC article.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Among authors: hufnagel rb. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.
Case 1: A term infant with apnea and stiffening.
Arroyo MS, Fu TT, Hufnagel RB. Arroyo MS, et al. Among authors: hufnagel rb. Neoreviews. 2017 Nov;18(11):e665-e667. doi: 10.1542/neo.18-11-e665. Neoreviews. 2017. PMID: 29200978 Free PMC article. No abstract available.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: hufnagel rb. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL 3rd, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA; Foundation Fighting Blindness Consortium Investigator Group. Duncan JL, et al. Among authors: hufnagel rb. Am J Ophthalmol. 2020 Nov;219:87-100. doi: 10.1016/j.ajo.2020.05.024. Epub 2020 May 22. Am J Ophthalmol. 2020. PMID: 32446738 Free PMC article.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Among authors: hufnagel rb. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
132 results