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Results: 1 to 20 of 208

1.

Capturing domain knowledge from multiple sources: the rare bone disorders use case.

Groza T, Tudorache T, Robinson PN, Zankl A.

J Biomed Semantics. 2015 Apr 17;6:21. doi: 10.1186/s13326-015-0008-2. eCollection 2015.

2.

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, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. No abstract available.

3.

Automatic concept recognition using the human phenotype ontology reference and test suite corpora.

Groza T, Köhler S, Doelken S, Collier N, Oellrich A, Smedley D, Couto FM, Baynam G, Zankl A, Robinson PN.

Database (Oxford). 2015 Feb 27;2015. pii: bav005. doi: 10.1093/database/bav005. Print 2015.

4.

Finding our way through phenotypes.

Deans AR, Lewis SE, Huala E, Anzaldo SS, Ashburner M, Balhoff JP, Blackburn DC, Blake JA, Burleigh JG, Chanet B, Cooper LD, Courtot M, Csösz S, Cui H, Dahdul W, Das S, Dececchi TA, Dettai A, Diogo R, Druzinsky RE, Dumontier M, Franz NM, Friedrich F, Gkoutos GV, Haendel M, Harmon LJ, Hayamizu TF, He Y, Hines HM, Ibrahim N, Jackson LM, Jaiswal P, James-Zorn C, Köhler S, Lecointre G, Lapp H, Lawrence CJ, Le Novère N, Lundberg JG, Macklin J, Mast AR, Midford PE, Mikó I, Mungall CJ, Oellrich A, Osumi-Sutherland D, Parkinson H, Ramírez MJ, Richter S, Robinson PN, Ruttenberg A, Schulz KS, Segerdell E, Seltmann KC, Sharkey MJ, Smith AD, Smith B, Specht CD, Squires RB, Thacker RW, Thessen A, Fernandez-Triana J, Vihinen M, Vize PD, Vogt L, Wall CE, Walls RL, Westerfeld M, Wharton RA, Wirkner CS, Woolley JB, Yoder MJ, Zorn AM, Mabee P.

PLoS Biol. 2015 Jan 6;13(1):e1002033. doi: 10.1371/journal.pbio.1002033. eCollection 2015 Jan.

5.

Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype.

Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Wang T, Tanaka M, Hayashi H, Kawabe N, Robinson PN, Zemojtel T, Mine T.

Hum Mutat. 2015 Mar;36(3):327-32. doi: 10.1002/humu.22745.

PMID:
25546334
6.

The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.

Sheikhzadeh S, De Backer J, Gorgan NR, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D, Bannas P, Keyser B, Mortensen K, Radke RM, Mir TS, Kölbel T, Robinson PN, Schmidtke J, Berger J, Blankenberg S, von Kodolitsch Y.

Orphanet J Rare Dis. 2014 Dec 10;9(1):203. doi: 10.1186/s13023-014-0203-8.

7.

Genomic data sharing for translational research and diagnostics.

Robinson PN.

Genome Med. 2014 Sep 26;6(9):78. doi: 10.1186/s13073-014-0078-2. eCollection 2014.

8.

[Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome].

von Kodolitsch Y, Blankart CR, Vogler M, Kallenbach K, Robinson PN.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2015 Feb;58(2):146-53. doi: 10.1007/s00103-014-2093-2. German.

PMID:
25446311
9.

MiR-497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling.

Grünhagen J, Bhushan R, Degenkolbe E, Jäger M, Knaus P, Mundlos S, Robinson PN, Ott CE.

J Bone Miner Res. 2015 May;30(5):796-808. doi: 10.1002/jbmr.2412.

PMID:
25407900
10.

Pseudoautosomal region 1 length polymorphism in the human population.

Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR.

PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov.

11.

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Krawitz PM, Schiska D, Krüger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M.

Mol Genet Genomic Med. 2014 Sep;2(5):393-401. doi: 10.1002/mgg3.92. Epub 2014 Jun 15.

12.

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN.

Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20.

PMID:
25331754
13.

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, Ott CE, Bauer S, Schofield PN, Mundlos S, Spielmann M, Robinson PN.

Genome Biol. 2014 Sep 4;15(9):423. doi: 10.1186/s13059-014-0423-1.

14.

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M.

Eur J Hum Genet. 2014 Oct 8. doi: 10.1038/ejhg.2014.210. [Epub ahead of print]

PMID:
25293717
15.

Clinical interpretation of CNVs with cross-species phenotype data.

Köhler S, Schoeneberg U, Czeschik JC, Doelken SC, Hehir-Kwa JY, Ibn-Salem J, Mungall CJ, Smedley D, Haendel MA, Robinson PN.

J Med Genet. 2014 Nov;51(11):766-72. doi: 10.1136/jmedgenet-2014-102633. Epub 2014 Oct 3.

PMID:
25280750
16.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN.

Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.

PMID:
25186178
17.

Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes.

Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, Robinson PN, Berger J, Mir TS, Zeller T, Blankenberg S, von Kodolitsch Y, Goldmann B.

Clin Cardiol. 2014 Nov;37(11):672-9. doi: 10.1002/clc.22320. Epub 2014 Aug 11.

PMID:
25113270
18.

The influence of disease categories on gene candidate predictions from model organism phenotypes.

Oellrich A, Koehler S, Washington N; Sanger Mouse Genetic Project, Mungall C, Lewis S, Haendel M, Robinson PN, Smedley D.

J Biomed Semantics. 2014 Jun 3;5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S4. doi: 10.1186/2041-1480-5-S1-S4. eCollection 2014.

19.

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN.

Bioinformatics. 2014 Nov 15;30(22):3215-22. doi: 10.1093/bioinformatics/btu508. Epub 2014 Jul 30.

20.

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Vanita V, Guo G, Singh D, Ott CE, Robinson PN.

Mol Cell Biochem. 2014 Nov;396(1-2):137-45. doi: 10.1007/s11010-014-2150-z. Epub 2014 Jul 27.

PMID:
25064449
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