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Items: 1 to 50 of 298

1.

Platelet alloantibody detection: moving ahead.

Wilkie AR, Italiano JE.

Blood. 2019 Nov 28;134(22):1887-1888. doi: 10.1182/blood.2019003434. No abstract available.

2.

Enlarged Parietal Foramina.

Mavrogiannis LA, Wilkie AOM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2004 Mar 30 [updated 2019 Nov 27].

3.

Megakaryocytes package contents into separate α-granules that are differentially distributed in platelets.

Battinelli EM, Thon JN, Okazaki R, Peters CG, Vijey P, Wilkie AR, Noetzli LJ, Flaumenhaft R, Italiano JE.

Blood Adv. 2019 Oct 22;3(20):3092-3098. doi: 10.1182/bloodadvances.2018020834.

4.

Next-Generation Community Air Quality Sensors for Identifying Air Pollution Episodes.

Seto E, Carvlin G, Austin E, Shirai J, Bejarano E, Lugo H, Olmedo L, Calderas A, Jerrett M, King G, Meltzer D, Wilkie A, Wong M, English P.

Int J Environ Res Public Health. 2019 Sep 5;16(18). pii: E3268. doi: 10.3390/ijerph16183268.

5.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium.

Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019.

6.

amplimap: a versatile tool to process and analyze targeted NGS data.

Koelling N, Bernkopf M, Calpena E, Maher GJ, Miller KA, Ralph HK, Goriely A, Wilkie AOM.

Bioinformatics. 2019 Dec 15;35(24):5349-5350. doi: 10.1093/bioinformatics/btz582.

7.

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.

Maher GJ, Bernkopf M, Koelling N, Wilkie AOM, Meistrich ML, Goriely A.

Hum Reprod. 2019 Aug 1;34(8):1404-1415. doi: 10.1093/humrep/dez090.

8.

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J, Craft J, Blair E, Wordsworth S, Beeson D, Chandratre S, Cossins J, Lester T, Németh AH, Ormondroyd E, Patel SY, Pagnamenta AT, Taylor JC, Thomson KL, Watkins H, Wilkie AOM, Knight JC.

Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9.

9.

Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.

Kilcoyne S, Luscombe C, Scully P, Jayamohan J, Magdum S, Wall S, Johnson D, Wilkie AOM.

J Craniofac Surg. 2019 Jul;30(5):1506-1511. doi: 10.1097/SCS.0000000000005241.

PMID:
31299755
10.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Corominas Galbany J, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C.

Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12.

PMID:
31230393
11.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

12.

Anaerobic digestion to reduce biomass and remove arsenic from As-hyperaccumulator Pteris vittata.

da Silva EB, Mussoline WA, Wilkie AC, Ma LQ.

Environ Pollut. 2019 Jul;250:23-28. doi: 10.1016/j.envpol.2019.03.117. Epub 2019 Apr 2.

PMID:
30981932
13.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

14.

Arsenic removal and biomass reduction of As-hyperaccumulator Pteris vittata: Coupling ethanol extraction with anaerobic digestion.

da Silva EB, Mussoline WA, Wilkie AC, Ma LQ.

Sci Total Environ. 2019 May 20;666:205-211. doi: 10.1016/j.scitotenv.2019.02.161. Epub 2019 Feb 12.

PMID:
30798231
15.

Influence of select bioenergy by-products on soil carbon and microbial activity: A laboratory study.

Bera T, Vardanyan L, Inglett KS, Reddy KR, O'Connor GA, Erickson JE, Wilkie AC.

Sci Total Environ. 2019 Feb 25;653:1354-1363. doi: 10.1016/j.scitotenv.2018.10.237. Epub 2018 Oct 18.

PMID:
30759575
16.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC.

Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073. Epub 2019 Feb 13.

17.

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Maher GJ, Ralph HK, Ding Z, Koelling N, Mlcochova H, Giannoulatou E, Dhami P, Paul DS, Stricker SH, Beck S, McVean G, Wilkie AOM, Goriely A.

Genome Res. 2018 Dec;28(12):1779-1790. doi: 10.1101/gr.239186.118. Epub 2018 Oct 24.

18.

Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype.

Tarnita RM, Wilkie AR, DeCaprio JA.

J Virol. 2018 Dec 10;93(1). pii: e01330-18. doi: 10.1128/JVI.01330-18. Print 2019 Jan 1.

19.

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.

Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.

20.

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Zhou Y, Koelling N, Fenwick AL, McGowan SJ, Calpena E, Wall SA, Smithson SF, Wilkie AOM, Twigg SRF.

Hum Mutat. 2018 Oct;39(10):1360-1365. doi: 10.1002/humu.23598. Epub 2018 Aug 7.

21.

The Drosophila homologue of MEGF8 is essential for early development.

Lloyd DL, Toegel M, Fulga TA, Wilkie AOM.

Sci Rep. 2018 Jun 8;8(1):8790. doi: 10.1038/s41598-018-27076-y.

22.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

23.

Arsenic removal by As-hyperaccumulator Pteris vittata from two contaminated soils: A 5-year study.

da Silva EB, Lessl JT, Wilkie AC, Liu X, Liu Y, Ma LQ.

Chemosphere. 2018 Sep;206:736-741. doi: 10.1016/j.chemosphere.2018.05.055. Epub 2018 May 10.

PMID:
29793065
24.

Combining Community Engagement and Scientific Approaches in Next-Generation Monitor Siting: The Case of the Imperial County Community Air Network.

Wong M, Bejarano E, Carvlin G, Fellows K, King G, Lugo H, Jerrett M, Meltzer D, Northcross A, Olmedo L, Seto E, Wilkie A, English P.

Int J Environ Res Public Health. 2018 Mar 15;15(3). pii: E523. doi: 10.3390/ijerph15030523.

25.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT; Deciphering Developmental Disorders Study, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A.

Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8.

26.

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurðsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R.

Am J Hum Genet. 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017.

27.

A Role for Myosin Va in Human Cytomegalovirus Nuclear Egress.

Wilkie AR, Sharma M, Pesola JM, Ericsson M, Fernandez R, Coen DM.

J Virol. 2018 Feb 26;92(6). pii: e01849-17. doi: 10.1128/JVI.01849-17. Print 2018 Mar 15.

28.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

29.

Arsenic removal from As-hyperaccumulator Pteris vittata biomass: Coupling extraction with precipitation.

da Silva EB, de Oliveira LM, Wilkie AC, Liu Y, Ma LQ.

Chemosphere. 2018 Feb;193:288-294. doi: 10.1016/j.chemosphere.2017.10.116. Epub 2017 Oct 27.

PMID:
29145089
30.

A cross-disciplinary evaluation of evidence for multipollutant effects on cardiovascular disease.

Luben TJ, Buckley BJ, Patel MM, Stevens T, Coffman E, Rappazzo KM, Owens EO, Hines EP, Moore D, Painter K, Jones R, Datko-Williams L, Wilkie AA, Madden M, Richmond-Bryant J.

Environ Res. 2018 Feb;161:144-152. doi: 10.1016/j.envres.2017.11.008. Epub 2017 Nov 13. Review.

31.

Virtual ellipsometry on layered micro-facet surfaces.

Wang C, Wilkie A, Harcuba P, Novosad L.

Opt Express. 2017 Sep 18;25(19):22971-22990. doi: 10.1364/OE.25.022971.

PMID:
29041602
32.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.

J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11.

33.

Clinical genetics of craniosynostosis.

Wilkie AOM, Johnson D, Wall SA.

Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542. Review.

34.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA.

Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26.

35.

The Imperial County Community Air Monitoring Network: A Model for Community-based Environmental Monitoring for Public Health Action.

English PB, Olmedo L, Bejarano E, Lugo H, Murillo E, Seto E, Wong M, King G, Wilkie A, Meltzer D, Carvlin G, Jerrett M, Northcross A.

Environ Health Perspect. 2017 Jul 31;125(7):074501. doi: 10.1289/EHP1772.

36.

Development and field validation of a community-engaged particulate matter air quality monitoring network in Imperial, California, USA.

Carvlin GN, Lugo H, Olmedo L, Bejarano E, Wilkie A, Meltzer D, Wong M, King G, Northcross A, Jerrett M, English PB, Hammond D, Seto E.

J Air Waste Manag Assoc. 2017 Dec;67(12):1342-1352. doi: 10.1080/10962247.2017.1369471. Epub 2017 Aug 22.

37.

Environmental Health Tracking Improves Pesticide Use Data to Enable Research and Inform Public Health Actions in California.

Richardson MJ, Madrigal DS, Wilkie A, Wong M, Roberts E.

J Public Health Manag Pract. 2017 Sep/Oct;23 Suppl 5 Supplement, Environmental Public Health Tracking:S97-S104. doi: 10.1097/PHH.0000000000000595.

PMID:
28763393
38.

Metal leachability from coal combustion residuals under different pHs and liquid/solid ratios.

da Silva EB, Li S, de Oliveira LM, Gress J, Dong X, Wilkie AC, Townsend T, Ma LQ.

J Hazard Mater. 2018 Jan 5;341:66-74. doi: 10.1016/j.jhazmat.2017.07.010. Epub 2017 Jul 13.

PMID:
28768222
39.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH.

J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26.

40.

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.

Wilkie AOM, Goriely A.

Prenat Diagn. 2017 Sep;37(9):946-948. doi: 10.1002/pd.5108. Epub 2017 Aug 1. No abstract available.

41.

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Giannoulatou E, Maher GJ, Ding Z, Gillis AJM, Dorssers LCJ, Hoischen A, Rajpert-De Meyts E; WGS500 Consortium, McVean G, Wilkie AOM, Looijenga LHJ, Goriely A.

PLoS One. 2017 May 22;12(5):e0178169. doi: 10.1371/journal.pone.0178169. eCollection 2017.

42.

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC.

Am J Med Genet A. 2017 Jun;173(6):1586-1592. doi: 10.1002/ajmg.a.38232. Epub 2017 Apr 6.

43.

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Kim S, Twigg SRF, Scanlon VA, Chandra A, Hansen TJ, Alsubait A, Fenwick AL, McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, Corsi AK.

Hum Mol Genet. 2017 Jun 1;26(11):2118-2132. doi: 10.1093/hmg/ddx107.

44.

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.

Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor J, Taylor JC, Wilkie AO, Watkins H.

Eur J Hum Genet. 2017 Jun;25(6):680-686. doi: 10.1038/ejhg.2017.37. Epub 2017 Mar 22.

45.

Many faces of SMCHD1.

Wilkie AO.

Nat Genet. 2017 Jan 31;49(2):176-178. doi: 10.1038/ng.3776.

PMID:
28138148
46.

Getting to and through the inner nuclear membrane during herpesvirus nuclear egress.

Lye MF, Wilkie AR, Filman DJ, Hogle JM, Coen DM.

Curr Opin Cell Biol. 2017 Jun;46:9-16. doi: 10.1016/j.ceb.2016.12.007. Epub 2017 Jan 10. Review.

47.

Gender and Racial/Ethnic Disparities: Cumulative Screening of Health Risk Indicators in 20-50 Year Olds in the United States.

Cordner A, Wilkie AA, Wade TJ, Hudgens EE, Birch RJ, Gallagher JE.

J Health Dispar Res Pract. 2017;10(8):1.

48.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.

49.

A Role for Nuclear F-Actin Induction in Human Cytomegalovirus Nuclear Egress.

Wilkie AR, Lawler JL, Coen DM.

mBio. 2016 Aug 23;7(4). pii: e01254-16. doi: 10.1128/mBio.01254-16.

50.

Factors associated with self-reported health: implications for screening level community-based health and environmental studies.

Gallagher JE, Wilkie AA, Cordner A, Hudgens EE, Ghio AJ, Birch RJ, Wade TJ.

BMC Public Health. 2016 Jul 26;16:640. doi: 10.1186/s12889-016-3321-5.

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