Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

203 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Boycott KM, et al. Among authors: brudno m. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.
PhenoTips: patient phenotyping software for clinical and research use.
Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. Girdea M, et al. Among authors: brudno m. Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24. Hum Mutat. 2013. PMID: 23636887
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium; Friedman JM, Michaud JL, Boycott KM. Beaulieu CL, et al. Among authors: brudno m. Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003. Am J Hum Genet. 2014. PMID: 24906018 Free PMC article.
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium; Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Al-Maawali A, et al. Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25. Eur J Hum Genet. 2015. PMID: 24961627 Free PMC article.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada; Parboosingh JS, Innes AM, Doherty D. Aldinger KA, et al. Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Am J Hum Genet. 2014. PMID: 25105227 Free PMC article.
Phenotyping: targeting genotype's rich cousin for diagnosis.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Baynam G, et al. Among authors: brudno m. J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. J Paediatr Child Health. 2015. PMID: 25109851 Review.
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium; Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Chetaille P, et al. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282101
The genomic birthday paradox: how much is enough?
Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN. Krawitz P, et al. Among authors: brudno m. Hum Mutat. 2015 Oct;36(10):989-97. doi: 10.1002/humu.22848. Epub 2015 Aug 20. Hum Mutat. 2015. PMID: 26239817
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: brudno m. 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.
203 results