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Items: 30

1.

Ensembl Genomes 2020-enabling non-vertebrate genomic research.

Howe KL, Contreras-Moreira B, De Silva N, Maslen G, Akanni W, Allen J, Alvarez-Jarreta J, Barba M, Bolser DM, Cambell L, Carbajo M, Chakiachvili M, Christensen M, Cummins C, Cuzick A, Davis P, Fexova S, Gall A, George N, Gil L, Gupta P, Hammond-Kosack KE, Haskell E, Hunt SE, Jaiswal P, Janacek SH, Kersey PJ, Langridge N, Maheswari U, Maurel T, McDowall MD, Moore B, Muffato M, Naamati G, Naithani S, Olson A, Papatheodorou I, Patricio M, Paulini M, Pedro H, Perry E, Preece J, Rosello M, Russell M, Sitnik V, Staines DM, Stein J, Tello-Ruiz MK, Trevanion SJ, Urban M, Wei S, Ware D, Williams G, Yates AD, Flicek P.

Nucleic Acids Res. 2019 Oct 10. pii: gkz890. doi: 10.1093/nar/gkz890. [Epub ahead of print]

PMID:
31598706
2.

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, Pedro H, Ficicioglu C.

Orphanet J Rare Dis. 2019 Aug 14;14(1):198. doi: 10.1186/s13023-019-1129-y.

3.

A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive.

Guerrero JC, Pedro H, Parisotto S, Heller D, Baisre-de Leon A.

Pediatr Dev Pathol. 2019 Jul 23:1093526619860362. doi: 10.1177/1093526619860362. [Epub ahead of print]

PMID:
31333056
4.

Ensembl Genomes 2018: an integrated omics infrastructure for non-vertebrate species.

Kersey PJ, Allen JE, Allot A, Barba M, Boddu S, Bolt BJ, Carvalho-Silva D, Christensen M, Davis P, Grabmueller C, Kumar N, Liu Z, Maurel T, Moore B, McDowall MD, Maheswari U, Naamati G, Newman V, Ong CK, Paulini M, Pedro H, Perry E, Russell M, Sparrow H, Tapanari E, Taylor K, Vullo A, Williams G, Zadissia A, Olson A, Stein J, Wei S, Tello-Ruiz M, Ware D, Luciani A, Potter S, Finn RD, Urban M, Hammond-Kosack KE, Bolser DM, De Silva N, Howe KL, Langridge N, Maslen G, Staines DM, Yates A.

Nucleic Acids Res. 2018 Jan 4;46(D1):D802-D808. doi: 10.1093/nar/gkx1011.

5.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.

Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.

6.

Epidemiological and laboratorial profile of patients with isolation of nontuberculous mycobacteria.

Pedro HSP, Coelho AGV, Mansur IM, Chiou AC, Pereira MIF, Belotti NCU, Ismael MGS, Cury MRCO, Nardi SMT, Chimara É.

Int J Mycobacteriol. 2017 Jul-Sep;6(3):239-245. doi: 10.4103/ijmy.ijmy_87_17.

7.

Chemical constituents of Helichrysum italicum (Roth) G. Don essential oil and their antimicrobial activity against Gram-positive and Gram-negative bacteria, filamentous fungi and Candida albicans.

Djihane B, Wafa N, Elkhamssa S, Pedro HJ, Maria AE, Mohamed Mihoub Z.

Saudi Pharm J. 2017 Jul;25(5):780-787. doi: 10.1016/j.jsps.2016.11.001. Epub 2016 Nov 12.

8.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

9.

PHI-base: a new interface and further additions for the multi-species pathogen-host interactions database.

Urban M, Cuzick A, Rutherford K, Irvine A, Pedro H, Pant R, Sadanadan V, Khamari L, Billal S, Mohanty S, Hammond-Kosack KE.

Nucleic Acids Res. 2017 Jan 4;45(D1):D604-D610. doi: 10.1093/nar/gkw1089. Epub 2016 Dec 3.

10.

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.

Segal E, Pedro H, Valdez-Gonzalez K, Parisotto S, Gliksman F, Thompson S, Sabri J, Fertig E.

Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019. Epub 2016 Jul 1.

PMID:
27726903
11.

First Draft Genome Sequence of a UK Strain (UK99) of Fusarium culmorum.

Urban M, King R, Andongabo A, Maheswari U, Pedro H, Kersey P, Hammond-Kosack K.

Genome Announc. 2016 Sep 15;4(5). pii: e00771-16. doi: 10.1128/genomeA.00771-16.

12.

Ensembl Genomes 2016: more genomes, more complexity.

Kersey PJ, Allen JE, Armean I, Boddu S, Bolt BJ, Carvalho-Silva D, Christensen M, Davis P, Falin LJ, Grabmueller C, Humphrey J, Kerhornou A, Khobova J, Aranganathan NK, Langridge N, Lowy E, McDowall MD, Maheswari U, Nuhn M, Ong CK, Overduin B, Paulini M, Pedro H, Perry E, Spudich G, Tapanari E, Walts B, Williams G, Tello-Ruiz M, Stein J, Wei S, Ware D, Bolser DM, Howe KL, Kulesha E, Lawson D, Maslen G, Staines DM.

Nucleic Acids Res. 2016 Jan 4;44(D1):D574-80. doi: 10.1093/nar/gkv1209. Epub 2015 Nov 17.

13.

PhytoPath: an integrative resource for plant pathogen genomics.

Pedro H, Maheswari U, Urban M, Irvine AG, Cuzick A, McDowall MD, Staines DM, Kulesha E, Hammond-Kosack KE, Kersey PJ.

Nucleic Acids Res. 2016 Jan 4;44(D1):D688-93. doi: 10.1093/nar/gkv1052. Epub 2015 Oct 17.

14.

Pediatric Immunization Distress: A Cluster Analyses of Children's, Parents', and Nurses' Behaviors During the Anticipatory Phase.

Pedro H, Barros L, Pereira AI.

Clin J Pain. 2016 May;32(5):394-403. doi: 10.1097/AJP.0000000000000287.

PMID:
26295377
15.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

16.

The Pathogen-Host Interactions database (PHI-base): additions and future developments.

Urban M, Pant R, Raghunath A, Irvine AG, Pedro H, Hammond-Kosack KE.

Nucleic Acids Res. 2015 Jan;43(Database issue):D645-55. doi: 10.1093/nar/gku1165. Epub 2014 Nov 20.

17.

Ensembl Genomes 2013: scaling up access to genome-wide data.

Kersey PJ, Allen JE, Christensen M, Davis P, Falin LJ, Grabmueller C, Hughes DS, Humphrey J, Kerhornou A, Khobova J, Langridge N, McDowall MD, Maheswari U, Maslen G, Nuhn M, Ong CK, Paulini M, Pedro H, Toneva I, Tuli MA, Walts B, Williams G, Wilson D, Youens-Clark K, Monaco MK, Stein J, Wei X, Ware D, Bolser DM, Howe KL, Kulesha E, Lawson D, Staines DM.

Nucleic Acids Res. 2014 Jan;42(Database issue):D546-52. doi: 10.1093/nar/gkt979. Epub 2013 Oct 25.

18.
19.

Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species.

Kersey PJ, Staines DM, Lawson D, Kulesha E, Derwent P, Humphrey JC, Hughes DS, Keenan S, Kerhornou A, Koscielny G, Langridge N, McDowall MD, Megy K, Maheswari U, Nuhn M, Paulini M, Pedro H, Toneva I, Wilson D, Yates A, Birney E.

Nucleic Acids Res. 2012 Jan;40(Database issue):D91-7. doi: 10.1093/nar/gkr895. Epub 2011 Nov 8.

20.

Mycobacterium tuberculosis in a HIV-1-infected population from Southeastern Brazil in the HAART era.

Pedro HS, Pereira MI, Goloni MR, Pires FC, Oliveira RS, da Rocha MA, Conceição LM, Fraga VD, Fenley JC, Cordeschi T, Machado RL, Franco C, Rossit AR.

Trop Med Int Health. 2011 Jan;16(1):67-73. doi: 10.1111/j.1365-3156.2010.02681.x.

21.

Development of a low bias method for characterizing viral populations using next generation sequencing technology.

Willerth SM, Pedro HA, Pachter L, Humeau LM, Arkin AP, Schaffer DV.

PLoS One. 2010 Oct 22;5(10):e13564. doi: 10.1371/journal.pone.0013564.

22.

Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.

Aisenberg J, Auyeung V, Pedro HF, Sugalski R, Chartoff A, Rothenberg R, Derr MA, Hwa V, Rosenfeld RG.

Horm Res Paediatr. 2010;74(6):406-11. doi: 10.1159/000314968. Epub 2010 Jul 7.

PMID:
20606392
23.

Exon-level microarray analyses identify alternative splicing programs in breast cancer.

Lapuk A, Marr H, Jakkula L, Pedro H, Bhattacharya S, Purdom E, Hu Z, Simpson K, Pachter L, Durinck S, Wang N, Parvin B, Fontenay G, Speed T, Garbe J, Stampfer M, Bayandorian H, Dorton S, Clark TA, Schweitzer A, Wyrobek A, Feiler H, Spellman P, Conboy J, Gray JW.

Mol Cancer Res. 2010 Jul;8(7):961-74. doi: 10.1158/1541-7786.MCR-09-0528. Epub 2010 Jul 6.

24.

Disordered microbial communities in asthmatic airways.

Hilty M, Burke C, Pedro H, Cardenas P, Bush A, Bossley C, Davies J, Ervine A, Poulter L, Pachter L, Moffatt MF, Cookson WO.

PLoS One. 2010 Jan 5;5(1):e8578. doi: 10.1371/journal.pone.0008578.

25.

Brief report: parents and nurses' behaviors associated with child distress during routine immunization in a portuguese population.

Pedro H, Barros L, Moleiro C.

J Pediatr Psychol. 2010 Jul;35(6):602-10. doi: 10.1093/jpepsy/jsp062. Epub 2009 Aug 14.

PMID:
19684119
26.

Ozone treatment for mercury determination in white wines.

Capelo JL, Pedro HA, Mota AM.

Talanta. 2003 Nov 12;61(4):485-91. doi: 10.1016/S0039-9140(03)00315-1.

PMID:
18969210
27.

Calibration approach for fluorescence lifetime determination for applications using time-gated detection and finite pulse width excitation.

Keller SB, Dudley JA, Binzel K, Jasensky J, de Pedro HM, Frey EW, Urayama P.

Anal Chem. 2008 Oct 15;80(20):7876-81. doi: 10.1021/ac801252q. Epub 2008 Sep 18.

PMID:
18798652
28.

Glutaric aciduria type II and narcolepsy in pregnancy.

Williams SF, Alvarez JR, Pedro HF, Apuzzio JJ.

Obstet Gynecol. 2008 Feb;111(2 Pt 2):522-4. doi: 10.1097/01.AOG.0000280587.02443.75.

PMID:
18239007
29.

Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism.

Wallerstein R, Twersky S, Layman P, Kernaghan L, Aviv H, Pedro HF, Pletcher B.

Am J Med Genet A. 2005 Aug 15;137(1):94-7. Review. No abstract available.

PMID:
16007609
30.

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE.

Hum Mutat. 2005 Apr;25(4):413.

PMID:
15776412

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