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Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Erwood S, Brewer RA, Bily TMI, Maino E, Zhou L, Cohn RD, Ivakine EA.

Genome Res. 2019 Dec;29(12):2010-2019. doi: 10.1101/gr.250720.119. Epub 2019 Nov 21.


Alpha-Dystroglycan Supports Platelet Aggregation and Thrombus Formation.

Wang Y, Gallant RC, Neves MAD, Lei X, Gupta S, Coelho R, Wong T, Cohn RD, Campbell KP, Ni H.

Blood. 2019 Nov 13;134(Supplement_1):11. doi: 10.1182/blood-2019-131521.


Anti-CRISPR AcrIIA5 Potently Inhibits All Cas9 Homologs Used for Genome Editing.

Garcia B, Lee J, Edraki A, Hidalgo-Reyes Y, Erwood S, Mir A, Trost CN, Seroussi U, Stanley SY, Cohn RD, Claycomb JM, Sontheimer EJ, Maxwell KL, Davidson AR.

Cell Rep. 2019 Nov 12;29(7):1739-1746.e5. doi: 10.1016/j.celrep.2019.10.017.


A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.

Kemaladewi DU, Bassi PS, Erwood S, Al-Basha D, Gawlik KI, Lindsay K, Hyatt E, Kember R, Place KM, Marks RM, Durbeej M, Prescott SA, Ivakine EA, Cohn RD.

Nature. 2019 Aug;572(7767):125-130. doi: 10.1038/s41586-019-1430-x. Epub 2019 Jul 24.


Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. No abstract available.


MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.

Borlot F, Whitney R, Cohn RD, Weiss SK.

Seizure. 2019 Apr;67:86-90. doi: 10.1016/j.seizure.2019.03.015. Epub 2019 Mar 22. Review.


Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 May 2;104(5):1007.


Letter to the Editor.

Cohn RD.

Forensic Sci Int. 2019 Mar;296:144. doi: 10.1016/j.forsciint.2019.01.002. Epub 2019 Jan 11. No abstract available.


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. Review.


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.


House Dust Endotoxin and Peripheral Leukocyte Counts: Results from Two Large Epidemiologic Studies.

Fessler MB, Carnes MU, Salo PM, Wilkerson J, Cohn RD, King D, Hoppin JA, Sandler DP, Travlos G, London SJ, Thorne PS, Zeldin DC.

Environ Health Perspect. 2017 May 31;125(5):057010. doi: 10.1289/EHP661.


Genetic Testing among Children in a Complex Care Program.

Oei K, Hayeems RZ, Ungar WJ, Cohn RD, Cohen E.

Children (Basel). 2017 May 22;4(5). pii: E42. doi: 10.3390/children4050042.


P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG.

Hum Mol Genet. 2017 Jun 15;26(12):2207-2217. doi: 10.1093/hmg/ddx110.


A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V.

Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.


Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S.

Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3.


Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.


From Design to Dissemination: Implementing Community-Based Participatory Research in Postdisaster Communities.

Lichtveld M, Kennedy S, Krouse RZ, Grimsley F, El-Dahr J, Bordelon K, Sterling Y, White L, Barlow N, DeGruy S, Paul D, Denham S, Hayes C, Sanders M, Mvula MM, Thornton E, Chulada P, Mitchell H, Martin WJ 2nd, Stephens KU, Cohn RD.

Am J Public Health. 2016 Jul;106(7):1235-42. doi: 10.2105/AJPH.2016.303169. Epub 2016 May 19.


Endotoxin exposure, serum vitamin D, asthma and wheeze outcomes.

Mendy A, Cohn RD, Thorne PS.

Respir Med. 2016 May;114:61-6. doi: 10.1016/j.rmed.2016.03.004. Epub 2016 Mar 11.


Adapting and implementing an evidence-based asthma counseling intervention for resource-poor populations.

Thornton E, Kennedy S, Hayes-Watson C, Krouse RZ, Mitchell H, Cohn RD, Wildfire J, Mvula MM, Lichtveld M, Grimsley F, Martin WJ 2nd, Stephens KU.

J Asthma. 2016 Oct;53(8):825-34. doi: 10.3109/02770903.2016.1155219. Epub 2016 Apr 6.


Exon Snipping in Duchenne Muscular Dystrophy.

Kemaladewi DU, Cohn RD.

Trends Mol Med. 2016 Mar;22(3):187-189. doi: 10.1016/j.molmed.2016.01.007. Epub 2016 Feb 5.


Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD; Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee.

J Pediatr. 2016 Apr;171:313-6.e1-2. doi: 10.1016/j.jpeds.2015.12.060. Epub 2016 Jan 26.


Duchenne muscular dystrophy: Ringo to the rescue?

Cohn RD, Dubowitz V.

Neuromuscul Disord. 2016 Jan;26(1):5-6. doi: 10.1016/j.nmd.2015.12.001. No abstract available.


Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.


Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.


Efficacy of an in-home test kit in reducing dust mite allergen levels: results of a randomized controlled pilot study.

Winn AK, Salo PM, Klein C, Sever ML, Harris SF, Johndrow D, Crockett PW, Cohn RD, Zeldin DC.

J Asthma. 2016;53(2):133-8. doi: 10.3109/02770903.2015.1072721. Epub 2015 Aug 24.


Clinically relevant copy number variations detected in cerebral palsy.

Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW.

Nat Commun. 2015 Aug 3;6:7949. doi: 10.1038/ncomms8949.


Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW.

BMC Genomics. 2015;16 Suppl 1:S12. doi: 10.1186/1471-2164-16-S1-S12. Epub 2015 Jan 15.


Dystrophin and Duchenne dystrophy.

Dubowitz V, Cohn RD.

Neuromuscul Disord. 2015 May;25(5):361-2. doi: 10.1016/j.nmd.2015.03.013. No abstract available.


The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

Bowdin SC, Hayeems RZ, Monfared N, Cohn RD, Meyn MS.

Clin Genet. 2016 Jan;89(1):10-9. doi: 10.1111/cge.12579. Epub 2015 Mar 24. Review.


Stem cells on alert: priming quiescent stem cells after remote injury.

Malam Z, Cohn RD.

Cell Stem Cell. 2014 Jul 3;15(1):7-8. doi: 10.1016/j.stem.2014.06.012.


The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Bowdin S, Ray PN, Cohn RD, Meyn MS.

Hum Mutat. 2014 May;35(5):513-9. doi: 10.1002/humu.22536. Epub 2014 Apr 7. Review.


Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.

Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27.


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