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Page 1
The contribution of de novo coding mutations to autism spectrum disorder.
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. Iossifov I, et al. Among authors: yamrom b. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29. Nature. 2014. PMID: 25363768 Free PMC article.
De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. Iossifov I, et al. Among authors: yamrom b. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. Neuron. 2012. PMID: 22542183 Free PMC article.
Sharing parental genomes by siblings concordant or discordant for autism.
Wroten M, Yoon S, Andrews P, Yamrom B, Ronemus M, Buja A, Krieger AM, Levy D, Ye K, Wigler M, Iossifov I. Wroten M, et al. Among authors: yamrom b. Cell Genom. 2023 May 8;3(6):100319. doi: 10.1016/j.xgen.2023.100319. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388917 Free PMC article.
Rates of contributory de novo mutation in high and low-risk autism families.
Yoon S, Munoz A, Yamrom B, Lee YH, Andrews P, Marks S, Wang Z, Reeves C, Winterkorn L, Krieger AM, Buja A, Pradhan K, Ronemus M, Baldwin KK, Levy D, Wigler M, Iossifov I. Yoon S, et al. Among authors: yamrom b. Commun Biol. 2021 Sep 1;4(1):1026. doi: 10.1038/s42003-021-02533-z. Commun Biol. 2021. PMID: 34471188 Free PMC article.
Rare de novo germline copy-number variation in testicular cancer.
Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Lee YH, Kendall J, Leotta A, Ronemus M, Hansen N, Sarrel K, Rau-Murthy R, Schrader K, Kauff N, Klein RJ, Lipkin SM, Murali R, Robson M, Sheinfeld J, Feldman D, Bosl G, Norton L, Wigler M, Offit K. Stadler ZK, et al. Among authors: yamrom b. Am J Hum Genet. 2012 Aug 10;91(2):379-83. doi: 10.1016/j.ajhg.2012.06.019. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863192 Free PMC article.
The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.
Chorbadjiev L, Cokol M, Weinstein Z, Shi K, Fleisch C, Dimitrov N, Mladenov S, Xu S, Hall J, Ford S, Lee YH, Yamrom B, Marks S, Munoz A, Lash A, Volfovsky N, Iossifov I. Chorbadjiev L, et al. Among authors: yamrom b. bioRxiv [Preprint]. 2024 Feb 11:2024.02.08.579330. doi: 10.1101/2024.02.08.579330. bioRxiv. 2024. PMID: 38370639 Free PMC article. Preprint.
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M. Levy D, et al. Among authors: yamrom b. Neuron. 2011 Jun 9;70(5):886-97. doi: 10.1016/j.neuron.2011.05.015. Neuron. 2011. PMID: 21658582 Free article.
Low load for disruptive mutations in autism genes and their biased transmission.
Iossifov I, Levy D, Allen J, Ye K, Ronemus M, Lee YH, Yamrom B, Wigler M. Iossifov I, et al. Among authors: yamrom b. Proc Natl Acad Sci U S A. 2015 Oct 13;112(41):E5600-7. doi: 10.1073/pnas.1516376112. Epub 2015 Sep 23. Proc Natl Acad Sci U S A. 2015. PMID: 26401017 Free PMC article.
14 results