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Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Clin Genet. 2019 Apr;95(4):496-506. doi: 10.1111/cge.13507.
Clin Genet. 2019.
PMID: 30666632
Free article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH.
Tolonen JP, et al.
Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14.
Mov Disord. 2024.
PMID: 37964426
Free PMC article.
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A.
Bernkopf M, et al.
Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w.
Nat Commun. 2023.
PMID: 36792598
Free PMC article.
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How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise.
Salway S, Yazici E, Khan N, Ali P, Elmslie F, Thompson J, Qureshi N.
Salway S, et al.
BMJ Open. 2019 Jul 9;9(7):e028928. doi: 10.1136/bmjopen-2019-028928.
BMJ Open. 2019.
PMID: 31289086
Free PMC article.
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'Over-the-counter' genetic testing: what does it really mean for primary care?
Rafi I, Qureshi N, Lucassen A, Modell M, Elmslie F, Kai J, Kirk M, Starey N, Goff S, Brennan P, Hodgson S.
Rafi I, et al.
Br J Gen Pract. 2009 Apr;59(561):283-7. doi: 10.3399/bjgp09X395021.
Br J Gen Pract. 2009.
PMID: 19341543
Free PMC article.
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GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.
Ismayilova N, Hacohen Y, MacKinnon AD, Elmslie F, Clarke A.
Ismayilova N, et al.
Eur J Paediatr Neurol. 2018 Nov;22(6):1161-1164. doi: 10.1016/j.ejpn.2018.02.002. Epub 2018 Feb 9.
Eur J Paediatr Neurol. 2018.
PMID: 30115503
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V.
Galosi S, et al. Among authors: elmslie f.
Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.
Brain. 2022.
PMID: 34382076
Free PMC article.
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Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
Kyrousi C, O'Neill AC, Brazovskaja A, He Z, Kielkowski P, Coquand L, Di Giaimo R, D' Andrea P, Belka A, Forero Echeverry A, Mei D, Lenge M, Cruceanu C, Buchsbaum IY, Khattak S, Fabien G, Binder E, Elmslie F, Guerrini R, Baffet AD, Sieber SA, Treutlein B, Robertson SP, Cappello S.
Kyrousi C, et al.
Nat Commun. 2021 Nov 2;12(1):6298. doi: 10.1038/s41467-021-26447-w.
Nat Commun. 2021.
PMID: 34728600
Free PMC article.
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