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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. Buske OJ, et al. Among authors: gahl wa. Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31. Hum Mutat. 2015. PMID: 26251998 Free PMC article.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA. Vilboux T, et al. Among authors: gahl wa. Hum Mutat. 2009 Dec;30(12):1611-9. doi: 10.1002/humu.21120. Hum Mutat. 2009. PMID: 19862842 Free PMC article.
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. Cullinane AR, et al. Among authors: gahl wa. Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009. Am J Hum Genet. 2011. Retraction in: Am J Hum Genet. 2017 May 4;100(5):837. doi: 10.1016/j.ajhg.2017.04.011 PMID: 21665000 Free PMC article. Retracted.
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA; NISC Comparative Sequencing Program. Pierson TM, et al. Among authors: gahl wa. Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7. Eur J Hum Genet. 2012. PMID: 22146942 Free PMC article.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR; NISC Comparative Sequencing Program; Gahl WA, Boerkoel CF. Markello TC, et al. Among authors: gahl wa. Mol Genet Metab. 2012 Mar;105(3):382-9. doi: 10.1016/j.ymgme.2011.12.014. Epub 2011 Dec 23. Mol Genet Metab. 2012. PMID: 22264778 Free PMC article.
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Markello TC, et al. Among authors: gahl wa. Mol Genet Metab. 2012 Apr;105(4):665-71. doi: 10.1016/j.ymgme.2011.12.015. Epub 2011 Dec 24. Mol Genet Metab. 2012. PMID: 22277120 Free PMC article.
Analysis of DNA sequence variants detected by high-throughput sequencing.
Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Adams DR, et al. Among authors: gahl wa. Hum Mutat. 2012 Apr;33(4):599-608. doi: 10.1002/humu.22035. Epub 2012 Feb 28. Hum Mutat. 2012. PMID: 22290882 Free PMC article.
715 results