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135 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. 2024 Jul 17:101216. 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. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free 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. PMID: 39314366 Free PMC article. Preprint.
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). 2024 Nov 19. doi: 10.1038/s41433-024-03455-w. Online ahead of print. Eye (Lond). 2024. 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
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.
Morning Glory Disc Anomaly: Expanding the MR Phenotype.
Firouzabadi FD, Soldatelli MD, Rameh V, Heidary G, Vargas SO, Gonzalez E, Rispoli J, Rahbar R, Robson CD. Firouzabadi FD, et al. Among authors: robson cd. AJNR Am J Neuroradiol. 2024 Aug 9;45(8):1070-1075. doi: 10.3174/ajnr.A8296. AJNR Am J Neuroradiol. 2024. PMID: 38991766
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.
Andersen RE, Alkuraya IF, Ajeesh A, Sakamoto T, Mena EL, Amr SS, Romi H, Kenna MA, Robson CD, Wilch ES, Nalbandian K, Piña-Aguilar R, Walsh CA, Morton CC. Andersen RE, et al. Among authors: robson cd. medRxiv [Preprint]. 2024 Jun 19:2024.06.16.24307499. doi: 10.1101/2024.06.16.24307499. medRxiv. 2024. Update in: Hum Genet. 2024 Jul;143(7):921-938. doi: 10.1007/s00439-024-02693-y PMID: 38946951 Free PMC article. Updated. Preprint.
135 results