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

Year Number of Results
1978 1
1982 3
1983 3
1984 1
1985 1
1988 5
1989 4
1990 3
1991 2
1992 4
1993 7
1994 7
1995 8
1996 7
1997 11
1998 8
1999 12
2000 5
2001 15
2002 9
2003 11
2004 18
2005 11
2006 21
2007 15
2008 11
2009 11
2010 10
2011 11
2012 12
2013 15
2014 19
2015 16
2016 13
2017 14
2018 23
2019 14
2020 25
2021 20
2022 7
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Search Results

383 results
Results by year
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Page 1
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: laing ng. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics, Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: laing ng. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: laing ng. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Laing Distal Myopathy.
Lamont P, Laing NG. Lamont P, et al. Among authors: laing ng. 2006 Oct 17 [updated 2021 Feb 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2006 Oct 17 [updated 2021 Feb 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301606 Free Books & Documents. Review.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: laing ng. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: laing n. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: laing ng. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
Ramucirumab and durvalumab for previously treated, advanced non-small-cell lung cancer, gastric/gastro-oesophageal junction adenocarcinoma, or hepatocellular carcinoma: An open-label, phase Ia/b study (JVDJ).
Bang YJ, Golan T, Dahan L, Fu S, Moreno V, Park K, Geva R, De Braud F, Wainberg ZA, Reck M, Goff L, Laing N, Mi G, Oliveira JM, Wasserstrom H, Lin CC. Bang YJ, et al. Among authors: laing n. Eur J Cancer. 2020 Sep;137:272-284. doi: 10.1016/j.ejca.2020.06.007. Epub 2020 Aug 19. Eur J Cancer. 2020. PMID: 32827847 Free article. Clinical Trial.
Nemaline myopathies.
Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Wallgren-Pettersson C, et al. Among authors: laing ng. Semin Pediatr Neurol. 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004. Semin Pediatr Neurol. 2011. PMID: 22172418 Review.
Congenital myopathies.
Laing NG. Laing NG. Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69. Curr Opin Neurol. 2007. PMID: 17885449 Review.
383 results