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137 results

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Page 1
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: robson cd. Genet Med. 2024 Jun;26(6):101119. doi: 10.1016/j.gim.2024.101119. Epub 2024 Mar 7. Genet Med. 2024. PMID: 38465576 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Among authors: robson cd. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304594. doi: 10.1101/2024.03.22.24304594. medRxiv. 2024. Update in: Genet Med. 2025 Apr;27(4):101216. doi: 10.1016/j.gim.2024.101216. PMID: 38585811 Free PMC article. Updated. Preprint.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Among authors: robson cd. Genet Med. 2025 Apr;27(4):101216. doi: 10.1016/j.gim.2024.101216. Epub 2024 Jul 18. Genet Med. 2025. PMID: 39033378 Free PMC article.
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
Jurgens JA, Matos Ruiz PM, King J, Foster EE, Berube L, Chan WM, Barry BJ, Jeong R, Rothman E, Whitman MC, MacKinnon S, Rivera-Quiles C, Pratt BM, Easterbrooks T, Mensching FM, Di Gioia SA, Pais L, England EM, de Berardinis T, Magli A, Koc F, Asakawa K, Kawakami K, O'Donnell-Luria A, Hunter DG, Robson CD, Bulyk ML, Engle EC. Jurgens JA, et al. Among authors: robson cd. bioRxiv [Preprint]. 2024 Sep 15:2024.09.12.612713. doi: 10.1101/2024.09.12.612713. bioRxiv. 2024. Update in: Invest Ophthalmol Vis Sci. 2025 Mar 03;66(3):62. doi: 10.1167/iovs.66.3.62. PMID: 39314366 Free PMC article. Updated. Preprint.
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Jurgens JA, Matos Ruiz PM, King J, Foster EE, Berube L, Chan WM, Barry BJ, Jeong R, Rothman E, Whitman MC, MacKinnon S, Rivera-Quiles C, Pratt BM, Easterbrooks T, Mensching FM, Di Gioia SA, Pais L, England EM, de Berardinis T, Magli A, Koc F, Asakawa K, Kawakami K, O'Donnell-Luria A, Hunter DG, Robson CD, Bulyk ML, Engle EC. Jurgens JA, et al. Among authors: robson cd. Invest Ophthalmol Vis Sci. 2025 Mar 3;66(3):62. doi: 10.1167/iovs.66.3.62. Invest Ophthalmol Vis Sci. 2025. PMID: 40162949 Free PMC article.
Otitic hydrocephalus and papilloedema-re-evaluating a treatment paradigm.
Chen TA, Weinert MC, See AP, Kielian A, Lehman LL, Remenschneider AK, Robson CD, Heidary G, Dagi LR, Gise R. Chen TA, et al. Among authors: robson cd. Eye (Lond). 2025 Mar;39(4):741-747. doi: 10.1038/s41433-024-03455-w. Epub 2024 Nov 19. Eye (Lond). 2025. PMID: 39562726
Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.
D'Arco F, Kandemirli SG, Dahmoush HM, Alves CAPF, Severino M, Dellepiane F, Robson CD, Lequin MH, Rossi-Espagnet C, O'Brien WT, Nash R, Clement E, Juliano AF. D'Arco F, et al. Among authors: robson cd. Neuroradiology. 2024 Aug;66(8):1397-1403. doi: 10.1007/s00234-024-03386-z. Epub 2024 Jun 4. Neuroradiology. 2024. PMID: 38833161
External Auditory Canal Stenosis in a Child.
Fallon K, Robson C, Remenschneider A. Fallon K, et al. JAMA Otolaryngol Head Neck Surg. 2025 Jun 1;151(6):627-628. doi: 10.1001/jamaoto.2025.0251. JAMA Otolaryngol Head Neck Surg. 2025. PMID: 40208623
Congenital and Infantile Masses of the Head and Neck.
Foust AM, Krishnasarma R, Robson CD, Snyder E, Martin D, Cassella KD, Johnstone L, Rispoli J, Pruthi S, Sarma A. Foust AM, et al. Among authors: robson cd. Radiographics. 2024 Dec;44(12):e240059. doi: 10.1148/rg.240059. Radiographics. 2024. PMID: 39612281 Review.
137 results