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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2007 1
2012 1
2014 2
2015 1
2017 2
2018 2
2019 2
2020 3
2021 2
2022 3
2023 1
2024 1

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22 results

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Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Lee WS, Baldassari S, Chipaux M, Adle-Biassette H, Stephenson SEM, Maixner W, Harvey AS, Lockhart PJ, Baulac S, Leventer RJ. Lee WS, et al. Among authors: stephenson sem. Ann Clin Transl Neurol. 2021 Feb;8(2):485-490. doi: 10.1002/acn3.51286. Epub 2021 Jan 12. Ann Clin Transl Neurol. 2021. PMID: 33434304 Free PMC article.
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS, Stephenson SEM, Pope K, Gillies G, Maixner W, Macdonald-Laurs E, MacGregor D, D'Arcy C, Jackson G, Harvey AS, Leventer RJ, Lockhart PJ. Lee WS, et al. Among authors: stephenson sem. Neurology. 2020 Nov 3;95(18):e2542-e2551. doi: 10.1212/WNL.0000000000010670. Epub 2020 Aug 26. Neurology. 2020. PMID: 32847954
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.
Gao Y, Wilson GR, Salce N, Romano A, Mellick GD, Stephenson SEM, Lockhart PJ. Gao Y, et al. Among authors: stephenson sem. Front Neurol. 2020 Jun 26;11:523. doi: 10.3389/fneur.2020.00523. eCollection 2020. Front Neurol. 2020. PMID: 32670181 Free PMC article.
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.
Gao Y, Wilson GR, Stephenson SEM, Oulad-Abdelghani M, Charlet-Berguerand N, Bozaoglu K, McLean CA, Thomas PQ, Finkelstein DI, Lockhart PJ. Gao Y, et al. Among authors: stephenson sem. Mol Brain. 2020 Mar 30;13(1):52. doi: 10.1186/s13041-020-00584-7. Mol Brain. 2020. PMID: 32228644 Free PMC article.
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ. Lee WS, et al. Among authors: stephenson sem. Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17. Ann Clin Transl Neurol. 2019. PMID: 31353856 Free PMC article.
22 results