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Items: 1 to 20 of 120


Genetic landscape of pediatric movement disorders and management implications.

Cordeiro D, Bullivant G, Siriwardena K, Evans A, Kobayashi J, Cohn RD, Mercimek-Andrews S.

Neurol Genet. 2018 Sep 26;4(5):e265. doi: 10.1212/NXG.0000000000000265. eCollection 2018 Oct.


Bedroom Allergen Exposure Beyond House Dust Mites.

Salo PM, Cohn RD, Zeldin DC.

Curr Allergy Asthma Rep. 2018 Aug 20;18(10):52. doi: 10.1007/s11882-018-0805-7. Review.


Outcome of Patients With Inherited Neurotransmitter Disorders.

Cordeiro D, Bullivant G, Cohn RD, Raiman J, Mercimek-Andrews S.

Can J Neurol Sci. 2018 Sep;45(5):571-576. doi: 10.1017/cjn.2018.266. Epub 2018 Aug 15.


Professional opportunity for pharmacists to integrate pharmacogenomics in medication therapy.

Cohn I, Cohn RD, Ito S.

Can Pharm J (Ott). 2018 Apr 2;151(3):167-169. doi: 10.1177/1715163518766376. eCollection 2018 May-Jun. No abstract available.


Exposure and Sensitization to Pets Modify Endotoxin Association with Asthma and Wheeze.

Mendy A, Wilkerson J, Salo PM, Cohn RD, Zeldin DC, Thorne PS.

J Allergy Clin Immunol Pract. 2018 Nov - Dec;6(6):2006-2013.e4. doi: 10.1016/j.jaip.2018.04.009. Epub 2018 Apr 21.


ERCC6L2-associated inherited bone marrow failure syndrome.

Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y.

Mol Genet Genomic Med. 2018 May;6(3):463-468. doi: 10.1002/mgg3.388. Epub 2018 Apr 6. Review.


House Dust Endotoxin Association with Chronic Bronchitis and Emphysema.

Mendy A, Salo PM, Cohn RD, Wilkerson J, Zeldin DC, Thorne PS.

Environ Health Perspect. 2018 Mar 23;126(3):037007. doi: 10.1289/EHP2452.


Increased polyamines as protective disease modifiers in congenital muscular dystrophy.

Kemaladewi DU, Benjamin JS, Hyatt E, Ivakine EA, Cohn RD.

Hum Mol Genet. 2018 Jun 1;27(11):1905-1912. doi: 10.1093/hmg/ddy097.


Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.


The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.


Clinician Agreement, Self-Efficacy, and Adherence with the Guidelines for the Diagnosis and Management of Asthma.

Cloutier MM, Salo PM, Akinbami LJ, Cohn RD, Wilkerson JC, Diette GB, Williams S, Elward KS, Mazurek JM, Spinner JR, Mitchell TA, Zeldin DC.

J Allergy Clin Immunol Pract. 2018 May - Jun;6(3):886-894.e4. doi: 10.1016/j.jaip.2018.01.018. Epub 2018 Feb 3.


Endotoxin predictors and associated respiratory outcomes differ with climate regions in the U.S.

Mendy A, Wilkerson J, Salo PM, Cohn RD, Zeldin DC, Thorne PS.

Environ Int. 2018 Mar;112:218-226. doi: 10.1016/j.envint.2017.12.003. Epub 2017 Dec 23.


Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S.

NPJ Genom Med. 2017 May 26;2:19. doi: 10.1038/s41525-017-0021-8. eCollection 2017.


Bedroom allergen exposures in US households.

Salo PM, Wilkerson J, Rose KM, Cohn RD, Calatroni A, Mitchell HE, Sever ML, Gergen PJ, Thorne PS, Zeldin DC.

J Allergy Clin Immunol. 2018 May;141(5):1870-1879.e14. doi: 10.1016/j.jaci.2017.08.033. Epub 2017 Nov 30.


Therapeutic Applications of CRISPR/Cas for Duchenne Muscular Dystrophy.

Wong TWY, Cohn RD.

Curr Gene Ther. 2017;17(4):301-308. doi: 10.2174/1566523217666171121165046.


Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ.

Eur J Hum Genet. 2017 Dec;25(12):1303-1312. doi: 10.1038/s41431-017-0020-3. Epub 2017 Nov 20.


Treating pediatric neuromuscular disorders: The future is now.

Dowling JJ, D Gonorazky H, Cohn RD, Campbell C.

Am J Med Genet A. 2018 Apr;176(4):804-841. doi: 10.1002/ajmg.a.38418. Epub 2017 Sep 10. Review.


Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.


Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.

Kemaladewi DU, Maino E, Hyatt E, Hou H, Ding M, Place KM, Zhu X, Bassi P, Baghestani Z, Deshwar AG, Merico D, Xiong HY, Frey BJ, Wilson MD, Ivakine EA, Cohn RD.

Nat Med. 2017 Aug;23(8):984-989. doi: 10.1038/nm.4367. Epub 2017 Jul 17.


Sensitization and Exposure to Pets: The Effect on Asthma Morbidity in the US Population.

Gergen PJ, Mitchell HE, Calatroni A, Sever ML, Cohn RD, Salo PM, Thorne PS, Zeldin DC.

J Allergy Clin Immunol Pract. 2018 Jan - Feb;6(1):101-107.e2. doi: 10.1016/j.jaip.2017.05.019. Epub 2017 Jul 8.

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