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Results: 1 to 20 of 188

1.

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS.

BMC Bioinformatics. 2014 Jul 21;15(1):248. [Epub ahead of print]

PMID:
25047600
[PubMed - as supplied by publisher]
Free Article
2.

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research.

Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H.

J Gen Intern Med. 2014 Jul 17. [Epub ahead of print]

PMID:
25029978
[PubMed - as supplied by publisher]
3.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2014 Jun 11. doi: 10.1038/ejhg.2014.109. [Epub ahead of print]

PMID:
24916641
[PubMed - as supplied by publisher]
4.

A pilot study to examine the effect of the Tulip oropharyngeal airway on ventilation immediately after mask ventilation following the induction of anaesthesia.

Robinson PN, Shaikh A, Sabir NM, Vaughan DJ, Kynoch M, Hasan M.

Anaesthesia. 2014 Jul;69(7):707-11. doi: 10.1111/anae.12662. Epub 2014 Apr 28.

PMID:
24773326
[PubMed - in process]
5.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):314-8. doi: 10.1002/bdra.23239. Epub 2014 Apr 7.

PMID:
24706454
[PubMed - in process]
6.

Phenotype ontologies and cross-species analysis for translational research.

Robinson PN, Webber C.

PLoS Genet. 2014 Apr 3;10(4):e1004268. doi: 10.1371/journal.pgen.1004268. eCollection 2014 Apr.

PMID:
24699242
[PubMed - in process]
Free PMC Article
7.

Jannovar: a java library for exome annotation.

Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN.

Hum Mutat. 2014 May;35(5):548-55. doi: 10.1002/humu.22531. Epub 2014 Apr 9.

PMID:
24677618
[PubMed - in process]
8.

An audit of the efficacy of a structured handover tool in obstetric anaesthesia.

Dharmadasa A, Bailes I, Gough K, Ebrahimi N, Robinson PN, Lucas DN.

Int J Obstet Anesth. 2014 May;23(2):151-6. doi: 10.1016/j.ijoa.2013.12.002. Epub 2013 Dec 22.

PMID:
24656527
[PubMed - in process]
9.

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG.

Eur J Med Genet. 2014 Apr;57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6.

PMID:
24613577
[PubMed - in process]
10.

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM.

Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.

PMID:
24439110
[PubMed - indexed for MEDLINE]
Free Article
11.

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.

Köhler S, Doelken SC, Ruef BJ, Bauer S, Washington N, Westerfield M, Gkoutos G, Schofield P, Smedley D, Lewis SE, Robinson PN, Mungall CJ.

Version 2. F1000Res. 2013 Feb 1 [revised 2014 Jan 21];2:30. doi: 10.12688/f1000research.2-30.v2. eCollection 2013.

PMID:
24358873
[PubMed]
Free PMC Article
12.

Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

Aydin A, Adsay BA, Sheikhzadeh S, Keyser B, Rybczynski M, Sondermann C, Detter C, Steven D, Robinson PN, Berger J, Schmidtke J, Blankenberg S, Willems S, von Kodolitsch Y, Hoffmann BA.

PLoS One. 2013 Dec 13;8(12):e81281. doi: 10.1371/journal.pone.0081281. eCollection 2013.

PMID:
24349050
[PubMed - in process]
Free PMC Article
13.

A systematic large-scale phenotypic analysis of de novo and inherited copy number variation.

Robinson PN.

Hum Mutat. 2013 Dec;34(12):v. doi: 10.1002/humu.22200. No abstract available.

PMID:
24227377
[PubMed - indexed for MEDLINE]
14.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN.

Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11.

PMID:
24217912
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Improved exome prioritization of disease genes through cross-species phenotype comparison.

Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D.

Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25.

PMID:
24162188
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P.

Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.

PMID:
24129430
[PubMed - in process]
17.

TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology.

Dziubianau M, Hecht J, Kuchenbecker L, Sattler A, Stervbo U, Rödelsperger C, Nickel P, Neumann AU, Robinson PN, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N.

Am J Transplant. 2013 Nov;13(11):2842-54. doi: 10.1111/ajt.12431. Epub 2013 Sep 10.

PMID:
24020931
[PubMed - indexed for MEDLINE]
18.

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J.

Genome Res. 2013 Dec;23(12):2091-102. doi: 10.1101/gr.157610.113. Epub 2013 Aug 30.

PMID:
23995701
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.

Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann CR, Brockstaedt L, Keyser B, Kaemmerer H, Mir T, Staebler A, Robinson PN, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y.

Clin Genet. 2013 Aug 29. doi: 10.1111/cge.12264. [Epub ahead of print]

PMID:
23991918
[PubMed - as supplied by publisher]
20.

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM.

PLoS One. 2013 Aug 5;8(8):e70151. doi: 10.1371/journal.pone.0070151. Print 2013.

PMID:
23940540
[PubMed - indexed for MEDLINE]
Free PMC Article

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