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Items: 1 to 50 of 341

1.

International perspectives on the implementation of reproductive carrier screening.

Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J.

Prenat Diagn. 2019 Nov 27. doi: 10.1002/pd.5611. [Epub ahead of print] Review.

PMID:
31774570
2.

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Sedghi M, Moslemi AR, Olive M, Etemadifar M, Ansari B, Nasiri J, Emrahi L, Mianesaz HR, Laing NG, Tajsharghi H.

Ann Clin Transl Neurol. 2019 Nov;6(11):2197-2204. doi: 10.1002/acn3.50912. Epub 2019 Sep 27.

3.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

McNamara EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinós T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, Nowak KJ.

Hum Mol Genet. 2019 Sep 12. pii: ddz214. doi: 10.1093/hmg/ddz214. [Epub ahead of print]

PMID:
31511858
4.

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Bryen SJ, Joshi H, Evesson FJ, Girard C, Ghaoui R, Waddell LB, Testa AC, Cummings B, Arbuckle S, Graf N, Webster R, MacArthur DG, Laing NG, Davis MR, Lührmann R, Cooper ST.

Am J Hum Genet. 2019 Sep 5;105(3):573-587. doi: 10.1016/j.ajhg.2019.07.013. Epub 2019 Aug 22.

PMID:
31447096
5.

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

Delatycki MB, Laing NG, Moore SJ, Emery J, Archibald AD, Massie J, Kirk EP.

Aust J Gen Pract. 2019 Mar;48(3):106-110. doi: 10.31128/AJGP-10-18-4725.

6.

Psychiatric genetic counseling: A mapping exercise.

Moldovan R, McGhee KA, Coviello D, Hamang A, Inglis A, Ingvoldstad Malmgren C, Johansson-Soller M, Laurino M, Meiser B, Murphy L, Paneque M, Papsuev O, Pawlak J, Rovira Moreno E, Serra-Juhe C, Shkedi-Rafid S, Laing N, Voelckel MA, Watson M, Austin JC.

Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):523-532. doi: 10.1002/ajmg.b.32735. Epub 2019 Jun 20. Review.

PMID:
31222934
7.

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.

Ong R, Edwards S, Howting D, Kamien B, Harrop K, Ravenscroft G, Davis M, Fietz M, Pachter N, Beilby J, Laing N.

BMJ Open. 2019 Jun 16;9(6):e028209. doi: 10.1136/bmjopen-2018-028209.

8.

Recessive MYH7-related myopathy in two families.

Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H.

Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.

PMID:
31130376
9.

In vitro susceptibility of urinary Escherichia coli isolates to first- and second-line empirically prescribed oral antimicrobials: CANWARD surveillance study results for Canadian outpatients, 2007-2016.

Karlowsky JA, Lagacé-Wiens PRS, Adam HJ, Baxter MR, Laing NM, Walkty AJ, Zhanel GG.

Int J Antimicrob Agents. 2019 Jul;54(1):62-68. doi: 10.1016/j.ijantimicag.2019.04.012. Epub 2019 Apr 26.

PMID:
31034938
10.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

11.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C.

Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9.

12.

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Delatycki MB, Laing N, Kirk E.

Eur J Hum Genet. 2019 May;27(5):669-670. doi: 10.1038/s41431-019-0356-y. Epub 2019 Feb 13. No abstract available.

PMID:
30760884
13.

Recent advances in understanding congenital myopathies.

Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG.

F1000Res. 2018 Dec 11;7. pii: F1000 Faculty Rev-1921. doi: 10.12688/f1000research.16422.1. eCollection 2018. Review.

14.

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Sedghi M, Salari M, Moslemi AR, Kariminejad A, Davis M, Goullée H, Olsson B, Laing N, Tajsharghi H.

Neurol Genet. 2018 Dec 3;4(6):e295. doi: 10.1212/NXG.0000000000000295. eCollection 2018 Dec.

15.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B.

PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec.

16.

Perceptions of parents of children with hearing loss of genetic origin in South Africa.

Gardiner SA, Laing N, Mall S, Wonkam A.

J Community Genet. 2019 Jul;10(3):325-333. doi: 10.1007/s12687-018-0396-y. Epub 2018 Nov 21.

17.

Hepatitis B assessment without hepatitis B virus DNA quantification: a prospective cohort study in Uganda.

Laing N, Tufton H, Ochola E, P'Kingston OG, Maini MK, Easom N.

Trans R Soc Trop Med Hyg. 2019 Jan 1;113(1):11-17. doi: 10.1093/trstmh/try117.

18.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A.

Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct.

19.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F.

Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.

PMID:
30215711
20.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C.

Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26.

PMID:
30166250
21.

STRetch: detecting and discovering pathogenic short tandem repeat expansions.

Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur DG, Oshlack A.

Genome Biol. 2018 Aug 21;19(1):121. doi: 10.1186/s13059-018-1505-2.

22.

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.

Ong R, Howting D, Rea A, Christian H, Charman P, Molster C, Ravenscroft G, Laing NG.

J Med Genet. 2018 Nov;55(11):744-752. doi: 10.1136/jmedgenet-2018-105362. Epub 2018 Aug 1.

PMID:
30068663
23.

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy.

Messineo AM, Gineste C, Sztal TE, McNamara EL, Vilmen C, Ogier AC, Hahne D, Bendahan D, Laing NG, Bryson-Richardson RJ, Gondin J, Nowak KJ.

Sci Rep. 2018 Jul 31;8(1):11490. doi: 10.1038/s41598-018-29437-z.

24.

Genetics of neuromuscular fetal akinesia in the genomics era.

Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G.

J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29. Review.

PMID:
29959180
25.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.

Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27.

26.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.

Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.

PMID:
29781137
27.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26. No abstract available.

28.

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.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

29.

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM.

Brain Behav. 2018 Feb 21;8(4):e00919. doi: 10.1002/brb3.919. eCollection 2018 Apr.

30.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

31.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
32.

Clinical Utility Gene Card for: Becker muscular dystrophy.

Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. No abstract available.

33.

PCR ribotyping and antimicrobial susceptibility testing of isolates of Clostridium difficile cultured from toxin-positive diarrheal stools of patients receiving medical care in Canadian hospitals: the Canadian Clostridium difficile Surveillance Study (CAN-DIFF) 2013-2015.

Karlowsky JA, Adam HJ, Kosowan T, Baxter MR, Nichol KA, Laing NM, Golding G, Zhanel GG.

Diagn Microbiol Infect Dis. 2018 Jun;91(2):105-111. doi: 10.1016/j.diagmicrobio.2018.01.017. Epub 2018 Jan 31.

PMID:
29456070
34.

CUGC for Duchenne muscular dystrophy (DMD).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 May;26(5):749-757. doi: 10.1038/s41431-017-0013-2. Epub 2018 Jan 12. No abstract available.

35.

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.

Tinklenberg JA, Siebers EM, Beatka MJ, Meng H, Yang L, Zhang Z, Ross JA, Ochala J, Morris C, Owens JM, Laing NG, Nowak KJ, Lawlor MW.

Hum Mol Genet. 2018 Feb 15;27(4):638-648. doi: 10.1093/hmg/ddx431.

36.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST.

Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13.

37.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
38.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL.

NPJ Genom Med. 2017;2. pii: 4. doi: 10.1038/s41525-017-0006-7. Epub 2017 Mar 3.

39.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
40.

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

Boutilier JK, Taylor RL, Ram R, McNamara E, Nguyen Q, Goullée H, Chandler D, Mehta M, Balmer L, Laing NG, Morahan G, Nowak KJ.

Biochim Biophys Acta Gene Regul Mech. 2017 Oct;1860(10):1025-1036. doi: 10.1016/j.bbagrm.2017.08.004. Epub 2017 Aug 26.

PMID:
28847732
41.

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation.

Boutilier JK, Taylor RL, Mann T, McNamara E, Hoffman GJ, Kenny J, Dilley RJ, Henry P, Morahan G, Laing NG, Nowak KJ.

G3 (Bethesda). 2017 Sep 7;7(9):2999-3017. doi: 10.1534/g3.117.044651.

42.

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Cabrera-Serrano M, Junckerstorff RC, Alisheri A, Pestronk A, Laing NG, Weihl CC, Lamont PJ.

Neuromuscul Disord. 2017 Sep;27(9):873-878. doi: 10.1016/j.nmd.2017.05.010. Epub 2017 May 15.

43.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G.

Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.

PMID:
28554554
44.

Antimicrobial susceptibility of clinical isolates of Neisseria gonorrhoeae to alternative antimicrobials with therapeutic potential.

Lagacé-Wiens PRS, Adam HJ, Laing NM, Baxter MR, Martin I, Mulvey MR, Karlowsky JA, Hoban DJ, Zhanel GG.

J Antimicrob Chemother. 2017 Aug 1;72(8):2273-2277. doi: 10.1093/jac/dkx147.

PMID:
28505331
45.

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.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

46.

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Abdalla E, Ravenscroft G, Zayed L, Beecroft SJ, Laing NG.

Neuromuscul Disord. 2017 Jun;27(6):537-541. doi: 10.1016/j.nmd.2017.01.013. Epub 2017 Jan 18.

PMID:
28336317
47.

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.

Molster CM, Lister K, Metternick-Jones S, Baynam G, Clarke AJ, Straub V, Dawkins HJ, Laing N.

Front Public Health. 2017 Feb 24;5:25. doi: 10.3389/fpubh.2017.00025. eCollection 2017.

48.

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001605. doi: 10.1161/CIRCGENETICS.116.001605.

PMID:
28280076
49.

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Feben C, Spencer C, Lochan A, Laing N, Fieggen K, Honey E, Wainstein T, Krause A.

Fam Cancer. 2017 Jul;16(3):441-446. doi: 10.1007/s10689-017-9968-y.

PMID:
28185119
50.

TransCONFIRM: Identification of a Genetic Signature of Response to Fulvestrant in Advanced Hormone Receptor-Positive Breast Cancer.

Jeselsohn R, Barry WT, Migliaccio I, Biagioni C, Zhao J, De Tribolet-Hardy J, Guarducci C, Bonechi M, Laing N, Winer EP, Brown M, Leo AD, Malorni L.

Clin Cancer Res. 2016 Dec 1;22(23):5755-5764. Epub 2016 May 16.

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