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Page 1
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. PMID: 38585811 Free PMC article. Preprint.
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 Mar 7;26(6):101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print. Genet Med. 2024. PMID: 38465576 Free article.
Syndromic Hearing Loss in Children.
Lewis M, Robson CD, D'Arco F. Lewis M, et al. Among authors: robson cd. Neuroimaging Clin N Am. 2023 Nov;33(4):563-580. doi: 10.1016/j.nic.2023.05.007. Epub 2023 Jul 4. Neuroimaging Clin N Am. 2023. PMID: 37741658 Review.
Conductive Hearing Loss in Children.
Robson CD. Robson CD. Neuroimaging Clin N Am. 2023 Nov;33(4):543-562. doi: 10.1016/j.nic.2023.05.006. Epub 2023 Jul 11. Neuroimaging Clin N Am. 2023. PMID: 37741657 Review.
Non-Syndromic Sensorineural Hearing Loss in Children.
Robson CD, Lewis M, D'Arco F. Robson CD, et al. Neuroimaging Clin N Am. 2023 Nov;33(4):531-542. doi: 10.1016/j.nic.2023.05.005. Epub 2023 Jul 11. Neuroimaging Clin N Am. 2023. PMID: 37741656 Review.
Single-institution Series of Hirayama Disease in North America.
Lynch BT, Slingerland AL, Robson CD, Ghosh PS, Hedequist DJ, Proctor MR, Fehnel KP. Lynch BT, et al. Among authors: robson cd. Clin Spine Surg. 2024 Feb 1;37(1):9-14. doi: 10.1097/BSD.0000000000001492. Epub 2023 Jul 24. Clin Spine Surg. 2024. PMID: 37491712
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: robson cd. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
A multi-disciplinary team approach to pediatric malignant mandibular tumors.
Hintze JM, Afshar S, Taghinia A, Labow B, Green M, Robson CD, Marcus K, Mack J, Perez-Atayde A, Rahbar R. Hintze JM, et al. Among authors: robson cd. Int J Pediatr Otorhinolaryngol. 2023 May;168:111547. doi: 10.1016/j.ijporl.2023.111547. Epub 2023 Apr 15. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37079945
A Gamified Social Media-Based Head and Neck Radiology Education Initiative of the American Society of Head and Neck Radiology: Viewership and Engagement Trends at 3 Years.
Koontz NA, Tomblinson CM, Shatzkes DR, Glastonbury CM, Phillips CD, Dean K, Strauss S, Agarwal M, Robson CD, Wiggins RH. Koontz NA, et al. Among authors: robson cd. AJNR Am J Neuroradiol. 2022 Dec;43(12):1784-1791. doi: 10.3174/ajnr.A7711. Epub 2022 Dec 1. AJNR Am J Neuroradiol. 2022. PMID: 36456082 Free article.
125 results