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Items: 17

1.

Characterization of minority HIV-1 drug resistant variants in the United Kingdom following the verification of a deep sequencing-based HIV-1 genotyping and tropism assay.

Silver N, Paynter M, McAllister G, Atchley M, Sayir C, Short J, Winner D, Alouani DJ, Sharkey FH, Bergefall K, Templeton K, Carrington D, Quiñones-Mateu ME.

AIDS Res Ther. 2018 Nov 8;15(1):18. doi: 10.1186/s12981-018-0206-y.

2.

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.

McMahon CJ, Breathnach C, Betts DR, Sharkey FH, Greally MT.

Am J Med Genet A. 2015 May;167A(5):1134-41. doi: 10.1002/ajmg.a.36978. Epub 2015 Mar 21.

PMID:
25810372
3.

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Nazaryan L, Stefanou EG, Hansen C, Kosyakova N, Bak M, Sharkey FH, Mantziou T, Papanastasiou AD, Velissariou V, Liehr T, Syrrou M, Tommerup N.

Eur J Hum Genet. 2014 Mar;22(3):338-43. doi: 10.1038/ejhg.2013.147. Epub 2013 Jul 17.

4.

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.

Murray JE, Walayat M, Gillett P, Sharkey FH, Rajan D, Carter NP, FitzPatrick DR.

Clin Dysmorphol. 2012 Jan;21(1):22-3. doi: 10.1097/MCD.0b013e32834c4afc.

PMID:
21934607
5.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P.

Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28.

6.

Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.

Wentzel C, Lynch SA, Stattin EL, Sharkey FH, Annerén G, Thuresson AC.

Mol Syndromol. 2010;1(2):75-81. Epub 2010 Jun 9.

7.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.

Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2.

PMID:
20132918
8.

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP.

Cytogenet Genome Res. 2009;127(1):61-6. doi: 10.1159/000279260. Epub 2010 Jan 27.

PMID:
20110647
9.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O.

Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.

10.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW.

Cytogenet Genome Res. 2008;123(1-4):65-78. doi: 10.1159/000184693. Epub 2009 Mar 11.

11.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR.

Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16. Erratum in: Hum Mol Genet. 2006 Jun 15;15(12):2030.

PMID:
16543359
12.

The degradation of n-hexadecane in soil by thermophilic geobacilli.

Marchant R, Sharkey FH, Banat IM, Rahman TJ, Perfumo A.

FEMS Microbiol Ecol. 2006 Apr;56(1):44-54.

13.

Chromosome analysis: what and when to request.

Sharkey FH, Maher E, FitzPatrick DR.

Arch Dis Child. 2005 Dec;90(12):1264-9. Review.

14.
15.

Detection and quantification of gene expression in environmental bacteriology.

Sharkey FH, Banat IM, Marchant R.

Appl Environ Microbiol. 2004 Jul;70(7):3795-806. Review. No abstract available.

16.

A rapid and effective method of extracting fully intact RNA from thermophilic geobacilli that is suitable for gene expression analysis.

Sharkey FH, Banat IM, Marchant R.

Extremophiles. 2004 Feb;8(1):73-7. Epub 2003 Nov 13.

PMID:
15064992
17.

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