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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: davagnanam i. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
Chandra A, Arno G, Williamson K, Sergouniotis PI, Preising MN, Charteris DG, Thompson DA, Holder GE, Borman AD, Davagnanam I, Webster AR, Lorenz B, FitzPatrick DR, Moore AT. Chandra A, et al. Among authors: davagnanam i. JAMA Ophthalmol. 2014 Aug;132(8):996-1001. doi: 10.1001/jamaophthalmol.2014.940. JAMA Ophthalmol. 2014. PMID: 24874986
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT. Hull S, et al. Among authors: davagnanam i. JAMA Ophthalmol. 2016 Jul 1;134(7):753-62. doi: 10.1001/jamaophthalmol.2016.1073. JAMA Ophthalmol. 2016. PMID: 27259167
Variability of retinopathy consequent upon novel mutations in LAMA1.
Schiff ER, Aychoua N, Nutan S, Davagnanam I, Moore AT, Robson AG, Patel CK, Webster AR, Arno G. Schiff ER, et al. Among authors: davagnanam i. Ophthalmic Genet. 2022 Oct;43(5):671-678. doi: 10.1080/13816810.2022.2076283. Epub 2022 May 26. Ophthalmic Genet. 2022. PMID: 35616092
Central Nervous System Lymphoma Mimicking Demyelinating Disease-A Case Report.
Foster MA, Collorone S, Rose G, Plowman PN, Thom M, Davagnanam I, Acheson J, Toosy AT. Foster MA, et al. Among authors: davagnanam i. J Neuroophthalmol. 2024 Mar 1;44(1):e55-e57. doi: 10.1097/WNO.0000000000001621. Epub 2022 Jun 8. J Neuroophthalmol. 2024. PMID: 36166769 No abstract available.
ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
Hostettler IC, O'Callaghan B, Bugiardini E, O'Connor E, Vandrovcova J, Davagnanam I, Alg V, Bonner S, Walsh D, Bulters D, Kitchen N, Brown MM, Grieve J, Werring DJ, Houlden H; Genetics and Observational Subarachnoid Haemorrhage (GOSH) study investigators. Hostettler IC, et al. Among authors: davagnanam i. Neurology. 2021 Feb 9;96(6):e947-e955. doi: 10.1212/WNL.0000000000011125. Epub 2020 Oct 26. Neurology. 2021. PMID: 33106390 Free PMC article.
Acute anosmia in neuromyelitis optica spectrum disorder.
Marshall J, Kleerekooper I, Davagnanam I, Trip SA. Marshall J, et al. Among authors: davagnanam i. Mult Scler. 2020 Dec;26(14):1958-1960. doi: 10.1177/1352458520907909. Epub 2020 Mar 31. Mult Scler. 2020. PMID: 32228206
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: davagnanam i. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
114 results