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Year Number of Results
1999 1
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2004 4
2005 1
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2008 5
2009 3
2010 1
2011 5
2012 5
2013 2
2014 2
2015 3
2016 3
2017 3
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61 results

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Page 1
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: temple sel. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
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. Among authors: temple sel. 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.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: temple se. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. PMID: 38645094 Free PMC article. Updated. Preprint.
Thresholds of polarization vision in octopuses.
Temple SE, How MJ, Powell SB, Gruev V, Marshall NJ, Roberts NW. Temple SE, et al. J Exp Biol. 2021 Apr 1;224(7):jeb240812. doi: 10.1242/jeb.240812. Epub 2021 Apr 15. J Exp Biol. 2021. PMID: 33602676 Free PMC article.
Computational simulation of Haidinger's brushes.
Misson GP, Temple SE, Anderson SJ. Misson GP, et al. Among authors: temple se. J Opt Soc Am A Opt Image Sci Vis. 2018 Jun 1;35(6):946-952. doi: 10.1364/JOSAA.35.000946. J Opt Soc Am A Opt Image Sci Vis. 2018. PMID: 29877338
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K. Kuroda Y, et al. Among authors: temple sel. Genet Med. 2023 Jul;25(7):100861. doi: 10.1016/j.gim.2023.100861. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37087635 Free article.
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Johnatty SE, Tudini E, Parsons MT, Michailidou K, Zanti M, Canson D, Davidson AL, Berger T, Rosti RO, Kratz CP, Kalb R, McReynolds LJ, Giri N, Richardson M, Pesaran T, Surrallés J, Pujol R, Vundinti BR, George M, Maxwell KN, Nathanson K, Domchek S, Fiesco-Roa MÓ, Frias S, Garcia-de-Teresa B, Jongmans M, Lalani S, Maiburg M, Prescott K, Robinson R, Rajagopalan S, Blok LS, Temple SEL, Tucker K, Auerbach AD, Cancio MI, Kennedy JA, MacMillan ML, Tryon R, Wagner JE, Walsh M, Boddicker NJ, Hu C, Weitzel JN, Dingemans AJM, Hadler J, Rotenberg N, Ramadane-Morchadi L, de la Hoya M, James P, Van Overeem Hansen T, Vreeswijk MPG, Walker LC, Sharan SK, Easton DF, Couch F, Smogorzewska A, Nelson A, Ngeow J, Tischkowitz M, Gomez-Garcia E, Spurdle AB. Johnatty SE, et al. Among authors: temple sel. medRxiv [Preprint]. 2025 May 26:2025.05.25.25327887. doi: 10.1101/2025.05.25.25327887. medRxiv. 2025. Update in: Am J Hum Genet. 2025 Oct 30:S0002-9297(25)00398-2. doi: 10.1016/j.ajhg.2025.10.007. PMID: 40568666 Free PMC article. Updated. Preprint.
The role of exome sequencing in childhood interstitial or diffuse lung disease.
Temple SEL, Ho G, Bennetts B, Boggs K, Vidic N, Mowat D, Christodoulou J, Schultz A, Gayagay T, Roscioli T, Zhu Y, Lunke S, Armstrong D, Harrison J, Kapur N, McDonald T, Selvadurai H, Tai A, Stark Z, Jaffe A. Temple SEL, et al. Orphanet J Rare Dis. 2022 Sep 9;17(1):350. doi: 10.1186/s13023-022-02508-1. Orphanet J Rare Dis. 2022. PMID: 36085161 Free PMC article.
Dynamic polarization vision in mantis shrimps.
Daly IM, How MJ, Partridge JC, Temple SE, Marshall NJ, Cronin TW, Roberts NW. Daly IM, et al. Among authors: temple se. Nat Commun. 2016 Jul 12;7:12140. doi: 10.1038/ncomms12140. Nat Commun. 2016. PMID: 27401817 Free PMC article.
61 results