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Items: 1 to 50 of 358

1.

Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.

Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.

Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.

PMID:
31263054
2.

Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica.

Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, Sheriff A, Scott W, Tierney C, Lee JYW, Gomaa NS, Desomchoke R, Lwin SM, Tu WT, Chen LY, Huang HY, Chao SC, Yu-Yun Lee J, Bare Y, Hayday T, Guy AL, Liu L, Lees C, Hirdler T, Lovell P, Xia L, Dayrit JF, Calonje E, Simpson MA, Tolar J, Parsons M, McGrath JA.

J Invest Dermatol. 2019 Jun 18. pii: S0022-202X(19)31772-5. doi: 10.1016/j.jid.2019.05.021. [Epub ahead of print] No abstract available.

PMID:
31226264
3.

Genotype-phenotype correlation in a large English cohort of autosomal recessive ichthyosis.

Simpson JK, Martinez-Quiepo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA.

Br J Dermatol. 2019 Jun 6. doi: 10.1111/bjd.18211. [Epub ahead of print]

PMID:
31168818
4.

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M, Koks S.

NPJ Parkinsons Dis. 2019 May 22;5:8. doi: 10.1038/s41531-019-0080-x. eCollection 2019.

5.

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.

Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.

6.

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Nat Commun. 2019 Apr 26;10(1):1951. doi: 10.1038/s41467-019-09905-4.

7.

Sequencing of human genomes with nanopore technology.

Bowden R, Davies RW, Heger A, Pagnamenta AT, de Cesare M, Oikkonen LE, Parkes D, Freeman C, Dhalla F, Patel SY, Popitsch N, Ip CLC, Roberts HE, Salatino S, Lockstone H, Lunter G, Taylor JC, Buck D, Simpson MA, Donnelly P.

Nat Commun. 2019 Apr 23;10(1):1869. doi: 10.1038/s41467-019-09637-5.

8.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

PMID:
30982612
9.

Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2).

Ghurye RR, Sundaram K, Smith F, Clark B, Simpson MA, Fairbanks L, Adhya Z, Mufti GJ, Marsh JCW, Ibrahim MAA.

Br J Haematol. 2019 Mar 28. doi: 10.1111/bjh.15896. [Epub ahead of print] No abstract available.

PMID:
30924144
10.

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

Tziotzios C, Petridis C, Dand N, Ainali C, Saklatvala JR, Pullabhatla V, Onoufriadis A, Pramanik R, Baudry D, Lee SH, Wood K, Liu L, Seegobin S, Michelotti GA, Lwin SM, Christou EAA, Curtis CJ, de Rinaldis E, Saxena A, Holmes S, Harries M, Palamaras I, Cunningham F, Parkins G, Kaur M, Farrant P, McDonagh A, Messenger A, Jones J, Jolliffe V, Ali I, Ardern-Jones M, Mitchell C, Burrows N, Atkar R, Banfield C, Alexandroff A, Champagne C, Cooper HL, Vañó-Galván S, Molina-Ruiz AM, Perez NO, Patel GK, Macbeth A, Page M, Bryden A, Mowbray M, Wahie S, Armstrong K, Cooke N, Goodfield M, Man I, de Berker D, Dunnill G, Takwale A, Rao A, Siah TW, Sinclair R, Wade MS, Dlova NC, Setterfield J, Lewis F, Bhargava K, Kirkpatrick N, Estivill X, Stefanato CM, Flohr C, Spector T, Watt FM, Smith CH, Barker JN, Fenton DA, Simpson MA, McGrath JA.

Nat Commun. 2019 Mar 8;10(1):1150. doi: 10.1038/s41467-019-09117-w.

11.

Hyaluronan Pericellular Matrix: Particle Exclusion Assay.

Simpson MA.

Methods Mol Biol. 2019;1952:103-110. doi: 10.1007/978-1-4939-9133-4_9.

PMID:
30825169
12.

The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.

Newnham M, South K, Bleda M, Auger WR, Barberà JA, Bogaard H, Bunclark K, Cannon JE, Delcroix M, Hadinnapola C, Howard LS, Jenkins D, Mayer E, Ng C, Rhodes CJ, Screaton N, Sheares K, Simpson MA, Southwood M, Su L, Taboada D, Traylor M, Trembath RC, Villar SS, Wilkins MR, Wharton J, Gräf S, Pepke-Zaba J, Laffan M, Lane DA, Morrell NW, Toshner M.

Eur Respir J. 2019 Mar 28;53(3). pii: 1801805. doi: 10.1183/13993003.01805-2018. Print 2019 Mar.

13.

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA.

JAMA Dermatol. 2018 Dec 26. doi: 10.1001/jamadermatol.2018.4665. [Epub ahead of print] No abstract available.

PMID:
30586144
14.

HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis.

Dand N, Duckworth M, Baudry D, Russell A, Curtis CJ, Lee SH, Evans I, Mason KJ, Alsharqi A, Becher G, Burden AD, Goodwin RG, McKenna K, Murphy R, Perera GK, Rotarescu R, Wahie S, Wright A, Reynolds NJ, Warren RB, Griffiths CEM, Smith CH, Simpson MA, Barker JN; BADBIR Study Group; BSTOP Study Group; PSORT Consortium.

J Allergy Clin Immunol. 2019 Jun;143(6):2120-2130. doi: 10.1016/j.jaci.2018.11.038. Epub 2018 Dec 20.

PMID:
30578879
15.

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.

Petridis C, Navarini AA, Dand N, Saklatvala J, Baudry D, Duckworth M, Allen MH, Curtis CJ, Lee SH, Burden AD, Layton A, Bataille V, Pink AE; Acne Genetic Study Group, Carlavan I, Voegel JJ, Spector TD, Trembath RC, McGrath JA, Smith CH, Barker JN, Simpson MA.

Nat Commun. 2018 Dec 12;9(1):5075. doi: 10.1038/s41467-018-07459-5.

16.

The NCI Transcriptional Pharmacodynamics Workbench: A Tool to Examine Dynamic Expression Profiling of Therapeutic Response in the NCI-60 Cell Line Panel.

Monks A, Zhao Y, Hose C, Hamed H, Krushkal J, Fang J, Sonkin D, Palmisano A, Polley EC, Fogli LK, Konaté MM, Miller SB, Simpson MA, Voth AR, Li MC, Harris E, Wu X, Connelly JW, Rapisarda A, Teicher BA, Simon R, Doroshow JH.

Cancer Res. 2018 Dec 15;78(24):6807-6817. doi: 10.1158/0008-5472.CAN-18-0989. Epub 2018 Oct 24.

PMID:
30355619
17.

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.

Tester DJ, Wong LCH, Chanana P, Gray B, Jaye A, Evans JM, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Behr ER, Ackerman MJ.

J Pediatr. 2018 Dec;203:423-428.e11. doi: 10.1016/j.jpeds.2018.08.011. Epub 2018 Sep 26.

PMID:
30268395
18.

Noncardiac genetic predisposition in sudden infant death syndrome.

Gray B, Tester DJ, Wong LC, Chanana P, Jaye A, Evans JM, Baruteau AE, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Ackerman MJ, Behr ER.

Genet Med. 2019 Mar;21(3):641-649. doi: 10.1038/s41436-018-0131-4. Epub 2018 Aug 24.

PMID:
30139991
19.

Mutation in GNE is associated with severe congenital thrombocytopenia.

Futterer J, Dalby A, Lowe GC, Johnson B, Simpson MA, Motwani J, Williams M, Watson SP, Morgan NV; UK GAPP Study Group.

Blood. 2018 Oct 25;132(17):1855-1858. doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25. No abstract available.

20.

WNT10A mutation results in severe tooth agenesis in a family of three sisters.

Abid MF, Simpson MA, Barbosa IA, Seppala M, Irving M, Sharpe PT, Cobourne MT.

Orthod Craniofac Res. 2018 Jun 21. doi: 10.1111/ocr.12231. [Epub ahead of print]

PMID:
29927056
21.

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Shanks GW, Tester DJ, Ackerman JP, Simpson MA, Behr ER, White SM, Ackerman MJ.

Circulation. 2018 Jun 19;137(25):2705-2715. doi: 10.1161/CIRCULATIONAHA.117.031053.

PMID:
29915097
22.

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.

Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP.

J Invest Dermatol. 2018 Dec;138(12):2674-2677. doi: 10.1016/j.jid.2018.05.013. Epub 2018 May 30. No abstract available.

PMID:
29857066
23.

Prostate tumor cell exosomes containing hyaluronidase Hyal1 stimulate prostate stromal cell motility by engagement of FAK-mediated integrin signaling.

McAtee CO, Booth C, Elowsky C, Zhao L, Payne J, Fangman T, Caplan S, Henry MD, Simpson MA.

Matrix Biol. 2019 May;78-79:165-179. doi: 10.1016/j.matbio.2018.05.002. Epub 2018 May 10.

PMID:
29753676
24.

A genome-wide association study for extremely high intelligence.

Zabaneh D, Krapohl E, Gaspar HA, Curtis C, Lee SH, Patel H, Newhouse S, Wu HM, Simpson MA, Putallaz M, Lubinski D, Plomin R, Breen G.

Mol Psychiatry. 2018 May;23(5):1226-1232. doi: 10.1038/mp.2017.121. Epub 2017 Jul 4.

25.

Fatigue, Pain, and Other Physical Symptoms of Living Liver Donors in the Adult-to-Adult Living Donor Liver Transplantation Cohort Study.

Butt Z, DiMartini AF, Liu Q, Simpson MA, Smith AR, Zee J, Gillespie BW, Holtzman S, Ladner D, Olthoff K, Fisher RA, Hafliger S, Freise CE, Mandell MS, Sherker AH, Dew MA.

Liver Transpl. 2018 Sep;24(9):1221-1232. doi: 10.1002/lt.25185.

PMID:
29698577
26.

Report from the fifth international consensus meeting to harmonize core outcome measures for atopic eczema/dermatitis clinical trials (HOME initiative).

Chalmers JR, Thomas KS, Apfelbacher C, Williams HC, Prinsen CA, Spuls PI, Simpson E, Gerbens LAA, Boers M, Barbarot S, Stalder JF, Abuabara K, Aoki V, Ardeleanu M, Armstrong J, Bang B, Berents TL, Burton T, Butler L, Chubachi T, Cresswell-Melville A, DeLozier A, Eckert L, Eichenfield L, Flohr C, Futamura M, Gadkari A, Gjerde ES, van Halewijn KF, Hawkes C, Howells L, Howie L, Humphreys R, Ishii HA, Kataoka Y, Katayama I, Kouwenhoven W, Langan SM, Leshem YA, Merhand S, Mina-Osorio P, Murota H, Nakahara T, Nunes FP, Nygaard U, Nygårdas M, Ohya Y, Ono E, Rehbinder E, Rogers NK, Romeijn GLE, Schuttelaar MLA, Sears AV, Simpson MA, Singh JA, Srour J, Stuart B, Svensson Å, Talmo G, Talmo H, Teixeira HD, Thyssen JP, Todd G, Torchet F, Volke A, von Kobyletzki L, Weisshaar E, Wollenberg A, Zaniboni M.

Br J Dermatol. 2018 May;178(5):e332-e341. doi: 10.1111/bjd.16543. Epub 2018 Apr 19.

PMID:
29672835
27.

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E.

Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5.

28.

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR, Evans MJ, Fleming P, Jeffrey I, Cohen MC, Tfelt-Hansen J, Simpson MA, Behr ER, Ackerman MJ.

J Am Coll Cardiol. 2018 Mar 20;71(11):1217-1227. doi: 10.1016/j.jacc.2018.01.030.

29.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

30.

Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.

Saklatvala JR, Dand N, Simpson MA.

Hum Mutat. 2018 May;39(5):643-652. doi: 10.1002/humu.23413. Epub 2018 Mar 15.

PMID:
29460986
31.

Molecular Pharmacodynamics-Guided Scheduling of Biologically Effective Doses: A Drug Development Paradigm Applied to MET Tyrosine Kinase Inhibitors.

Srivastava AK, Hollingshead MG, Govindharajulu JP, Covey JM, Liston D, Simpson MA, Peggins JO, Bottaro DP, Wright JJ, Kinders RJ, Doroshow JH, Parchment RE.

Mol Cancer Ther. 2018 Mar;17(3):698-709. doi: 10.1158/1535-7163.MCT-17-0552. Epub 2018 Feb 14.

32.

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.

Garcia-Dios DA, Levi D, Shah V, Gillett C, Simpson MA, Hanby A, Tomlinson I, Sawyer EJ.

Br J Cancer. 2018 Jan;118(2):277-284. doi: 10.1038/bjc.2017.450. Epub 2018 Jan 9.

33.

Endovascular Thrombectomy for Ischemic Stroke Increases Disability-Free Survival, Quality of Life, and Life Expectancy and Reduces Cost.

Campbell BCV, Mitchell PJ, Churilov L, Keshtkaran M, Hong KS, Kleinig TJ, Dewey HM, Yassi N, Yan B, Dowling RJ, Parsons MW, Wu TY, Brooks M, Simpson MA, Miteff F, Levi CR, Krause M, Harrington TJ, Faulder KC, Steinfort BS, Ang T, Scroop R, Barber PA, McGuinness B, Wijeratne T, Phan TG, Chong W, Chandra RV, Bladin CF, Rice H, de Villiers L, Ma H, Desmond PM, Meretoja A, Cadilhac DA, Donnan GA, Davis SM; EXTEND-IA Investigators.

Front Neurol. 2017 Dec 14;8:657. doi: 10.3389/fneur.2017.00657. eCollection 2017.

34.

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

Lee JYW, Farag A, Tawdy A, Liu L, Michael M, Rashidghamat E, Aristodemou S, Hsu CK, Simpson MA, Parsons M, McGrath JA.

J Dermatol Sci. 2018 Feb;89(2):198-201. doi: 10.1016/j.jdermsci.2017.11.012. Epub 2017 Dec 2. No abstract available.

PMID:
29229434
35.

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis.

Onoufriadis A, Stone K, Katsiamides A, Amar A, Omar Y, de Lange KM, Taylor K, Barrett JC, Pollok R, Hayee B, Mansfield JC, Sanderson JD, Simpson MA, Mathew CG, Prescott NJ.

J Crohns Colitis. 2018 Feb 28;12(3):321-326. doi: 10.1093/ecco-jcc/jjx157.

36.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

37.

De novo mutations implicate novel genes in systemic lupus erythematosus.

Pullabhatla V, Roberts AL, Lewis MJ, Mauro D, Morris DL, Odhams CA, Tombleson P, Liljedahl U, Vyse S, Simpson MA, Sauer S, de Rinaldis E, Syvänen AC, Vyse TJ.

Hum Mol Genet. 2018 Feb 1;27(3):421-429. doi: 10.1093/hmg/ddx407.

38.

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM, Simpson MA, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2018 Apr;138(4):984-987. doi: 10.1016/j.jid.2017.10.031. Epub 2017 Nov 11. No abstract available.

39.

Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.

Ehm MG, Aponte JL, Chiano MN, Yerges-Armstrong LM, Johnson T, Barker JN, Cook SF, Gupta A, Hinds DA, Li L, Nelson MR, Simpson MA, Tian C, McCarthy LC, Rajpal DK, Waterworth DM.

PLoS One. 2017 Nov 1;12(11):e0186405. doi: 10.1371/journal.pone.0186405. eCollection 2017.

40.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Glasgow RIC, Thompson K, Barbosa IA, He L, Alston CL, Deshpande C, Simpson MA, Morris AAM, Neu A, Löbel U, Hall J, Prokisch H, Haack TB, Hempel M, McFarland R, Taylor RW.

Neurogenetics. 2017 Dec;18(4):227-235. doi: 10.1007/s10048-017-0526-4. Epub 2017 Oct 26.

41.

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN.

Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi: 10.1093/hmg/ddx328.

42.

Prevalence and Predictors of Patient-Reported Long-term Mental and Physical Health After Donation in the Adult-to-Adult Living-Donor Liver Transplantation Cohort Study.

Dew MA, Butt Z, Liu Q, Simpson MA, Zee J, Ladner DP, Holtzman S, Smith AR, Pomfret EA, Merion RM, Gillespie BW, Sherker AH, Fisher RA, Olthoff KM, Burton JR Jr, Terrault NA, Fox AN, DiMartini AF.

Transplantation. 2018 Jan;102(1):105-118. doi: 10.1097/TP.0000000000001942.

43.

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW, Hsu CK, Simpson MA, McGrath JA.

Am J Med Genet A. 2017 Nov;173(11):3109-3113. doi: 10.1002/ajmg.a.38414. Epub 2017 Sep 8.

PMID:
28884889
44.

Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis.

Bowes J, Ashcroft J, Dand N, Jalali-Najafabadi F, Bellou E, Ho P, Marzo-Ortega H, Helliwell PS, Feletar M, Ryan AW, Kane DJ, Korendowych E, Simpson MA, Packham J, McManus R, Brown MA, Smith CH, Barker JN, McHugh N, FitzGerald O, Warren RB, Barton A.

Ann Rheum Dis. 2017 Oct;76(10):1774-1779. doi: 10.1136/annrheumdis-2017-211414. Epub 2017 Aug 18.

45.

Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia.

Tziotzios C, Ainali C, Holmes S, Cunningham F, Lwin SM, Palamaras I, Bhargava K, Rymer J, Stefanato CM, Kirkpatrick N, Vano-Galvan S, Petridis C, Fenton DA, Simpson MA, Onoufriadis A, McGrath JA.

J Invest Dermatol. 2017 Nov;137(11):2440-2443. doi: 10.1016/j.jid.2017.06.030. Epub 2017 Jul 31. No abstract available.

46.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA.

J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31.

47.

Iron-related markers are associated with infection after liver transplantation.

Chow JKL, Ganz T, Ruthazer R, Simpson MA, Pomfret EA, Gordon FD, Westerman ME, Snydman DR.

Liver Transpl. 2017 Dec;23(12):1541-1552. doi: 10.1002/lt.24817.

48.

Is liver transplant education patient-centered?

Bababekov YJ, Ven Fong Z, Chang DC, Simpson MA, Yeh H, Pomposelli JJ.

Liver Transpl. 2017 Aug;23(8):1070-1072. doi: 10.1002/lt.24801. Epub 2017 Jul 3. No abstract available.

49.

Genetic architecture of acne vulgaris.

Lichtenberger R, Simpson MA, Smith C, Barker J, Navarini AA.

J Eur Acad Dermatol Venereol. 2017 Dec;31(12):1978-1990. doi: 10.1111/jdv.14385. Epub 2017 Sep 24. Review.

PMID:
28593717
50.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL.

Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014.

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