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54 results

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Page 1
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: vento j. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Genome Editing with Cas9 in Lactobacilli.
Vento JM, Beisel CL. Vento JM, et al. Methods Mol Biol. 2022;2479:245-261. doi: 10.1007/978-1-0716-2233-9_16. Methods Mol Biol. 2022. PMID: 35583743
Barriers to genome editing with CRISPR in bacteria.
Vento JM, Crook N, Beisel CL. Vento JM, et al. J Ind Microbiol Biotechnol. 2019 Oct;46(9-10):1327-1341. doi: 10.1007/s10295-019-02195-1. Epub 2019 Jun 5. J Ind Microbiol Biotechnol. 2019. PMID: 31165970 Free PMC article. Review.
Mitochondrial disease in childhood: nuclear encoded.
Goldstein AC, Bhatia P, Vento JM. Goldstein AC, et al. Among authors: vento jm. Neurotherapeutics. 2013 Apr;10(2):212-26. doi: 10.1007/s13311-013-0185-6. Neurotherapeutics. 2013. PMID: 23516041 Free PMC article. Review.
Genetic counseling in mitochondrial disease.
Vento JM, Pappa B. Vento JM, et al. Neurotherapeutics. 2013 Apr;10(2):243-50. doi: 10.1007/s13311-012-0173-2. Neurotherapeutics. 2013. PMID: 23264099 Free PMC article. Review.
Engineered cell differentiation and sexual reproduction in probiotic and mating yeasts.
Jensen ED, Deichmann M, Ma X, Vilandt RU, Schiesaro G, Rojek MB, Lengger B, Eliasson L, Vento JM, Durmusoglu D, Hovmand SP, Al'Abri I, Zhang J, Crook N, Jensen MK. Jensen ED, et al. Among authors: vento jm. Nat Commun. 2022 Oct 19;13(1):6201. doi: 10.1038/s41467-022-33961-y. Nat Commun. 2022. PMID: 36261657 Free PMC article.
Genetic testing in child neurology.
Vento JM, Schmidt JL. Vento JM, et al. Semin Pediatr Neurol. 2012 Dec;19(4):167-72. doi: 10.1016/j.spen.2012.09.003. Semin Pediatr Neurol. 2012. PMID: 23245549
Epilepsy panel testing criteria: A clinical assessment.
Fazenbaker AC, Munro CD, Carlson JC, Durst AL, Vento JM. Fazenbaker AC, et al. Among authors: vento jm. J Genet Couns. 2024 Apr;33(2):352-360. doi: 10.1002/jgc4.1732. Epub 2023 May 28. J Genet Couns. 2024. PMID: 37246482
54 results