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Items: 1 to 20 of 238

1.

Rare Non-Coding 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 Apr 27. doi: 10.1002/humu.23006. [Epub ahead of print]

PMID:
27120253
2.

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.

3.

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

Passarge E, Robinson PN, Graul-Neumann LM.

Eur J Hum Genet. 2016 Feb 10. doi: 10.1038/ejhg.2016.6. [Epub ahead of print]

PMID:
26860060
4.

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.

5.
6.

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.

PMID:
26562621
7.

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. 2015 Nov 12. doi: 10.1038/gim.2015.137. [Epub ahead of print]

PMID:
26562225
8.

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
9.

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.

10.

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.

PMID:
26508578
11.

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 Oct.

12.

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. 2015 Sep 29. pii: bbv083. [Epub ahead of print]

PMID:
26420780
13.

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.

14.

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.

PMID:
26295439
15.

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.

PMID:
26269093
16.

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.

PMID:
26251998
17.

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
18.

The genomic birthday paradox: how much is enough?

Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN.

Hum Mutat. 2015 Oct;36(10):989-97. doi: 10.1002/humu.22848. Epub 2015 Aug 20.

PMID:
26239817
19.

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.

Smedley D, Robinson PN.

Genome Med. 2015 Jul 30;7(1):81. doi: 10.1186/s13073-015-0199-2. eCollection 2015. Review.

20.

Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).

Goyal S, Jäger M, Robinson PN, Vanita V.

Clin Genet. 2015 Jul 21. doi: 10.1111/cge.12644. [Epub ahead of print]

PMID:
26195043
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