Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 271

1.

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE.

Bone. 2018 Apr 11;113:29-40. doi: 10.1016/j.bone.2018.04.006. [Epub ahead of print]

PMID:
29653293
2.

Plain-language medical vocabulary for precision diagnosis.

Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA.

Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x. No abstract available.

PMID:
29632381
3.

Harmonising phenomics information for a better interoperability in the rare disease field.

Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A.

Eur J Med Genet. 2018 Feb 7. pii: S1769-7212(17)30506-2. doi: 10.1016/j.ejmg.2018.01.013. [Epub ahead of print] Review.

PMID:
29425702
4.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.

Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5.

5.

AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome.

Arif R, Zaradzki M, Remes A, Seppelt P, Kunze R, Schröder H, Schwill S, Ensminger SM, Robinson PN, Karck M, Müller OJ, Hecker M, Wagner AH, Kallenbach K.

Mol Ther Nucleic Acids. 2017 Dec 15;9:69-79. doi: 10.1016/j.omtn.2017.08.014. Epub 2017 Sep 20.

6.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4.

PMID:
29214566
7.

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM.

Hum Mutat. 2018 Feb;39(2):197-201. doi: 10.1002/humu.23374. Epub 2017 Dec 14.

PMID:
29193559
8.

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.

Notaro M, Schubach M, Robinson PN, Valentini G.

BMC Bioinformatics. 2017 Oct 12;18(1):449. doi: 10.1186/s12859-017-1854-y.

9.

Biometric and structural ocular manifestations of Marfan syndrome.

Gehle P, Goergen B, Pilger D, Ruokonen P, Robinson PN, Salchow DJ.

PLoS One. 2017 Sep 20;12(9):e0183370. doi: 10.1371/journal.pone.0183370. eCollection 2017.

10.

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC.

Am J Hum Genet. 2017 Aug 3;101(2):206-217. doi: 10.1016/j.ajhg.2017.06.011. Epub 2017 Jul 20.

11.

NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome.

Gehle P, Robinson PN, Heinzel F, Edelmann F, Yigitbasi M, Berger F, Falk V, Pieske B, Wellnhofer E.

Int J Cardiol Heart Vasc. 2016 May 18;12:15-20. doi: 10.1016/j.ijcha.2016.05.003. eCollection 2016 Sep.

12.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF.

Front Med (Lausanne). 2017 May 26;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017.

13.

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.

Schubach M, Re M, Robinson PN, Valentini G.

Sci Rep. 2017 Jun 7;7(1):2959. doi: 10.1038/s41598-017-03011-5.

14.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

15.

Once doesn't count: Phenotype-driven gene hunting in cohorts.

Robinson PN.

Hum Mutat. 2017 May;38(5):469. doi: 10.1002/humu.23209. No abstract available.

PMID:
28425197
16.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C.

Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005.

17.

[Diagnostics in human genetics : Integration of phenotypic and genomic data].

Köhler S, Robinson PN.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):542-549. doi: 10.1007/s00103-017-2538-5. German.

PMID:
28293716
18.

Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease: From Simplification to Complexity to Simplicity?

Girdauskas E, Robinson PN, von Kodolitsch Y.

Am J Med. 2017 Jul;130(7):e315-e316. doi: 10.1016/j.amjmed.2016.12.043. Epub 2017 Feb 27. No abstract available.

PMID:
28249667
19.

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

Jerković I, Ibrahim DM, Andrey G, Haas S, Hansen P, Janetzki C, González Navarrete I, Robinson PN, Hecht J, Mundlos S.

PLoS Genet. 2017 Jan 19;13(1):e1006567. doi: 10.1371/journal.pgen.1006567. eCollection 2017 Jan.

20.

Alternate-locus aware variant calling in whole genome sequencing.

Jäger M, Schubach M, Zemojtel T, Reinert K, Church DM, Robinson PN.

Genome Med. 2016 Dec 13;8(1):130.

21.

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.

Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel T.

Nucleic Acids Res. 2017 Jan 4;45(D1):D68-D73. doi: 10.1093/nar/gkw925. Epub 2016 Oct 18.

22.

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.

Mungall CJ, McMurry JA, Köhler S, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Lewis SE, NguyenXuan J, Shefchek K, Vasilevsky N, Yuan Z, Washington N, Hochheiser H, Groza T, Smedley D, Robinson PN, Haendel MA.

Nucleic Acids Res. 2017 Jan 4;45(D1):D712-D722. doi: 10.1093/nar/gkw1128. Epub 2016 Nov 29.

23.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

24.

Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus.

Hansen P, Hecht J, Ibn-Salem J, Menkuec BS, Roskosch S, Truss M, Robinson PN.

BMC Genomics. 2016 Nov 4;17(1):873.

25.

An expanded evaluation of protein function prediction methods shows an improvement in accuracy.

Jiang Y, Oron TR, Clark WT, Bankapur AR, D'Andrea D, Lepore R, Funk CS, Kahanda I, Verspoor KM, Ben-Hur A, Koo da CE, Penfold-Brown D, Shasha D, Youngs N, Bonneau R, Lin A, Sahraeian SM, Martelli PL, Profiti G, Casadio R, Cao R, Zhong Z, Cheng J, Altenhoff A, Skunca N, Dessimoz C, Dogan T, Hakala K, Kaewphan S, Mehryary F, Salakoski T, Ginter F, Fang H, Smithers B, Oates M, Gough J, Törönen P, Koskinen P, Holm L, Chen CT, Hsu WL, Bryson K, Cozzetto D, Minneci F, Jones DT, Chapman S, Bkc D, Khan IK, Kihara D, Ofer D, Rappoport N, Stern A, Cibrian-Uhalte E, Denny P, Foulger RE, Hieta R, Legge D, Lovering RC, Magrane M, Melidoni AN, Mutowo-Meullenet P, Pichler K, Shypitsyna A, Li B, Zakeri P, ElShal S, Tranchevent LC, Das S, Dawson NL, Lee D, Lees JG, Sillitoe I, Bhat P, Nepusz T, Romero AE, Sasidharan R, Yang H, Paccanaro A, Gillis J, Sedeño-Cortés AE, Pavlidis P, Feng S, Cejuela JM, Goldberg T, Hamp T, Richter L, Salamov A, Gabaldon T, Marcet-Houben M, Supek F, Gong Q, Ning W, Zhou Y, Tian W, Falda M, Fontana P, Lavezzo E, Toppo S, Ferrari C, Giollo M, Piovesan D, Tosatto SC, Del Pozo A, Fernández JM, Maietta P, Valencia A, Tress ML, Benso A, Di Carlo S, Politano G, Savino A, Rehman HU, Re M, Mesiti M, Valentini G, Bargsten JW, van Dijk AD, Gemovic B, Glisic S, Perovic V, Veljkovic V, Veljkovic N, Almeida-E-Silva DC, Vencio RZ, Sharan M, Vogel J, Kansakar L, Zhang S, Vucetic S, Wang Z, Sternberg MJ, Wass MN, Huntley RP, Martin MJ, O'Donovan C, Robinson PN, Moreau Y, Tramontano A, Babbitt PC, Brenner SE, Linial M, Orengo CA, Rost B, Greene CS, Mooney SD, Friedberg I, Radivojac P.

Genome Biol. 2016 Sep 7;17(1):184. doi: 10.1186/s13059-016-1037-6.

26.

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Smedley D, Schubach M, Jacobsen JOB, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN.

Am J Hum Genet. 2016 Sep 1;99(3):595-606. doi: 10.1016/j.ajhg.2016.07.005. Epub 2016 Aug 25.

27.

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.

Heinrich V, Kamphans T, Mundlos S, Robinson PN, Krawitz PM.

Bioinformatics. 2017 Jan 1;33(1):72-78. doi: 10.1093/bioinformatics/btw550. Epub 2016 Aug 26.

28.

Animal-based studies will be essential for precision medicine.

Lloyd KC, Robinson PN, MacRae CA.

Sci Transl Med. 2016 Aug 17;8(352):352ed12. doi: 10.1126/scitranslmed.aaf5474. No abstract available.

PMID:
27535618
29.

Navigating the Phenotype Frontier: The Monarch Initiative.

McMurry JA, Köhler S, Washington NL, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Xuan JN, Shefchek K, Vasilevsky NA, Yuan Z, Lewis SE, Hochheiser H, Groza T, Smedley D, Robinson PN, Mungall CJ, Haendel MA.

Genetics. 2016 Aug;203(4):1491-5. doi: 10.1534/genetics.116.188870.

30.

Erratum to: A systematic, large-scale comparison of transcription factor binding site models.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D.

BMC Genomics. 2016 Jul 20;17(1):502. No abstract available.

31.

A systematic, large-scale comparison of transcription factor binding site models.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D.

BMC Genomics. 2016 May 21;17:388. doi: 10.1186/s12864-016-2729-8. Erratum in: BMC Genomics. 2016 Jul 20;17(1):502.

32.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A.

Pol J Pathol. 2016 Mar;67(1):78-83.

33.

Capturing phenotypes for precision medicine.

Robinson PN, Mungall CJ, Haendel M.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000372. doi: 10.1101/mcs.a000372.

34.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM.

Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19.

35.

Analysis of Strengths, Weaknesses, Opportunities, and Threats as a Tool for Translating Evidence into Individualized Medical Strategies (I-SWOT).

von Kodolitsch Y, Bernhardt AM, Robinson PN, Kölbel T, Reichenspurner H, Debus S, Detter C.

Aorta (Stamford). 2015 Jun 1;3(3):98-107. doi: 10.12945/j.aorta.2015.14.064. eCollection 2015 Jun.

36.

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

Passarge E, Robinson PN, Graul-Neumann LM.

Eur J Hum Genet. 2016 Aug;24(9):1244-7. doi: 10.1038/ejhg.2016.6. Epub 2016 Feb 10. Review.

37.

Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy.

Seppelt PC, Schwill S, Weymann A, Arif R, Weber A, Zaradzki M, Richter K, Ensminger S, Robinson PN, Wagner AH, Karck M, Kallenbach K.

PLoS One. 2016 Feb 3;11(2):e0148012. doi: 10.1371/journal.pone.0148012. eCollection 2016.

38.
39.

Next-generation diagnostics and disease-gene discovery with the Exomiser.

Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN.

Nat Protoc. 2015 Dec;10(12):2004-15. doi: 10.1038/nprot.2015.124. Epub 2015 Nov 12.

40.

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D.

Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12.

41.

Human genotype-phenotype databases: aims, challenges and opportunities.

Brookes AJ, Robinson PN.

Nat Rev Genet. 2015 Dec;16(12):702-15. doi: 10.1038/nrg3932. Epub 2015 Nov 10. Review.

PMID:
26553330
42.

Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F, Swan D, Weiss Solís DY, Krawitz P, Schacherer F, Schols P, Yang H, Borry P, Glusman G, Robinson PN.

BMC Genomics. 2015 Nov 7;16:910. doi: 10.1186/s12864-015-1973-7.

43.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.

Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J.

Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. Epub 2015 Oct 28. No abstract available.

44.

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.

Collier N, Groza T, Smedley D, Robinson PN, Oellrich A, Rebholz-Schuhmann D.

Database (Oxford). 2015 Oct 27;2015. pii: bav104. doi: 10.1093/database/bav104. Print 2015.

45.

The digital revolution in phenotyping.

Oellrich A, Collier N, Groza T, Rebholz-Schuhmann D, Shah N, Bodenreider O, Boland MR, Georgiev I, Liu H, Livingston K, Luna A, Mallon AM, Manda P, Robinson PN, Rustici G, Simon M, Wang L, Winnenburg R, Dumontier M.

Brief Bioinform. 2016 Sep;17(5):819-30. doi: 10.1093/bib/bbv083. Epub 2015 Sep 29.

46.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

47.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

48.

Use of model organism and disease databases to support matchmaking for human disease gene discovery.

Mungall CJ, Washington NL, Nguyen-Xuan J, Condit C, Smedley D, Köhler S, Groza T, Shefchek K, Hochheiser H, Robinson PN, Lewis SE, Haendel MA.

Hum Mutat. 2015 Oct;36(10):979-84. doi: 10.1002/humu.22857. Epub 2015 Sep 8.

49.

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.

Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M.

Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31.

50.

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.

Zhu N, Heinrich V, Dickhaus T, Hecht J, Robinson PN, Mundlos S, Kamphans T, Krawitz PM.

Bioinformatics. 2015 Nov 15;31(22):3577-83. doi: 10.1093/bioinformatics/btv457. Epub 2015 Aug 6.

PMID:
26249812

Supplemental Content

Loading ...
Support Center