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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT. Barclay SF, et al. Orphanet J Rare Dis. 2015 Aug 25;10:103. doi: 10.1186/s13023-015-0314-x. Orphanet J Rare Dis. 2015. PMID: 26302956 Free PMC article.
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE. Barclay SF, et al. Respir Physiol Neurobiol. 2016 Jan 15;221:59-63. doi: 10.1016/j.resp.2015.11.002. Epub 2015 Nov 10. Respir Physiol Neurobiol. 2016. PMID: 26555080
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.
Barclay SF, Inman KW, Luks VL, McIntyre JB, Al-Ibraheemi A, Church AJ, Perez-Atayde AR, Mangray S, Jeng M, Kreimer SR, Walker L, Fishman SJ, Alomari AI, Chaudry G, Trenor Iii CC, Adams D, Kozakewich HPW, Kurek KC. Barclay SF, et al. Genet Med. 2019 Jul;21(7):1517-1524. doi: 10.1038/s41436-018-0390-0. Epub 2018 Dec 13. Genet Med. 2019. PMID: 30542204 Free PMC article.
Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.
Perez-Atayde AR, Debelenko L, Al-Ibraheemi A, Eng W, Ruiz-Gutierrez M, O'Hare M, Croteau SE, Trenor CC 3rd, Boyer D, Balkin DM, Barclay SF, Hsi Dickie B, Liang MG, Chaudry G, Alomari AI, Mulliken JB, Adams DM, Kurek KC, Fishman SJ, Kozakewich HPW. Perez-Atayde AR, et al. Among authors: barclay sf. Am J Surg Pathol. 2022 Jul 1;46(7):963-976. doi: 10.1097/PAS.0000000000001898. Epub 2022 Apr 7. Am J Surg Pathol. 2022. PMID: 35385405