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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: baranzini se. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.
PINBPA: cytoscape app for network analysis of GWAS data.
Wang L, Matsushita T, Madireddy L, Mousavi P, Baranzini SE. Wang L, et al. Among authors: baranzini se. Bioinformatics. 2015 Jan 15;31(2):262-4. doi: 10.1093/bioinformatics/btu644. Epub 2014 Sep 25. Bioinformatics. 2015. PMID: 25260698
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO. Slavotinek AM, et al. Clin Genet. 2015 Nov;88(5):468-73. doi: 10.1111/cge.12543. Epub 2015 Jan 6. Clin Genet. 2015. PMID: 25457163 Free PMC article.
Whole genome sequences of 2 octogenarians with sustained cognitive abilities.
Nickles D, Madireddy L, Patel N, Isobe N, Miller BL, Baranzini SE, Kramer JH, Oksenberg JR. Nickles D, et al. Among authors: baranzini se. Neurobiol Aging. 2015 Mar;36(3):1435-8. doi: 10.1016/j.neurobiolaging.2014.11.003. Epub 2014 Dec 16. Neurobiol Aging. 2015. PMID: 25618617 Free PMC article.
Genetic contribution to multiple sclerosis risk among Ashkenazi Jews.
Khankhanian P, Matsushita T, Madireddy L, Lizée A, Din L, Moré JM, Gourraud PA, Hauser SL, Baranzini SE, Oksenberg JR. Khankhanian P, et al. Among authors: baranzini se. BMC Med Genet. 2015 Jul 28;16:55. doi: 10.1186/s12881-015-0201-2. BMC Med Genet. 2015. PMID: 26212423 Free PMC article.
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X, Madireddy L, Caillier S, Santaniello A, Esposito F, Comi G, Stuve O, Zhou Y, Taylor B, Kilpatrick T, Martinelli-Boneschi F, Cree BAC, Oksenberg JR, Hauser SL, Baranzini SE. Jia X, et al. Among authors: baranzini se. Ann Neurol. 2018 Jul;84(1):51-63. doi: 10.1002/ana.25263. Epub 2018 Jul 3. Ann Neurol. 2018. PMID: 29908077 Free PMC article.
199 results