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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 2
2005 2
2007 3
2009 1
2010 3
2011 5
2012 2
2013 2
2014 4
2015 1
2016 1
2017 2
2019 1
2020 1
2022 1
2023 1
2024 0

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31 results

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Page 1
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Abudi-Sinreich S, Bodine SP, Yokoyama T, Tolman NJ, Tyrlik M, Testa LC, Han CG, Dorward HM, Wincovitch SM, Anikster Y, Gahl WA, Cinar R, Gochuico BR, Malicdan MCV. Abudi-Sinreich S, et al. Among authors: dorward hm. Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z. Respir Res. 2022. PMID: 35509004 Free PMC article.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Kuptanon C, Morimoto M, Nicoli ER, Stephen J, Yarnell DS, Dorward H, Owen W, Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ, Malicdan MCV. Kuptanon C, et al. Among authors: dorward h. Front Genet. 2023 Mar 8;14:1072784. doi: 10.3389/fgene.2023.1072784. eCollection 2023. Front Genet. 2023. PMID: 36968585 Free PMC article.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: dorward hm. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. PMID: 26944273 Free PMC article. Corrected and republished.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: dorward hm. Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622. Neurology. 2017. PMID: 28193763 Free PMC article.
Non-specific accumulation of glycosphingolipids in GNE myopathy.
Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD. Patzel KA, et al. Among authors: dorward h. J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18. J Inherit Metab Dis. 2014. PMID: 24136589 Free PMC article.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Yarnell DS, Roney JC, Teixeira C, Freitas MI, Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ. Yarnell DS, et al. Among authors: dorward h. Am J Med Genet A. 2020 Dec;182(12):3007-3013. doi: 10.1002/ajmg.a.61886. Epub 2020 Sep 29. Am J Med Genet A. 2020. PMID: 32990340
Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.
Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR. Cullinane AR, et al. Among authors: dorward h. Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC. Am J Respir Cell Mol Biol. 2014. PMID: 24134621 Free PMC article.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network; Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV. Nicoli ER, et al. Among authors: dorward h. Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30. Am J Hum Genet. 2019. PMID: 31155284 Free PMC article.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group; Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Sloan JL, et al. Among authors: dorward hm. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. Nat Genet. 2011. PMID: 21841779 Free PMC article.
31 results