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Items: 11

1.

Measuring shared variants in cohorts of discordant siblings with applications to autism.

Ye K, Iossifov I, Levy D, Yamrom B, Buja A, Krieger AM, Wigler M.

Proc Natl Acad Sci U S A. 2017 Jul 3;114(27):7073-7076. doi: 10.1073/pnas.1700439114. Epub 2017 Jun 19.

2.

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.

Proc Natl Acad Sci U S A. 2015 Oct 13;112(41):E5600-7. doi: 10.1073/pnas.1516376112. Epub 2015 Sep 23.

3.

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.

Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.

4.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

5.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

6.

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.

Am J Hum Genet. 2012 Aug 10;91(2):379-83. doi: 10.1016/j.ajhg.2012.06.019. Epub 2012 Aug 2.

7.

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.

Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009.

8.

Reducing system noise in copy number data using principal components of self-self hybridizations.

Lee YH, Ronemus M, Kendall J, Lakshmi B, Leotta A, Levy D, Esposito D, Grubor V, Ye K, Wigler M, Yamrom B.

Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):E103-10. doi: 10.1073/pnas.1106233109. Epub 2011 Dec 29.

9.

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.

Neuron. 2011 Jun 9;70(5):886-97. doi: 10.1016/j.neuron.2011.05.015.

10.

Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA).

Grubor V, Krasnitz A, Troge JE, Meth JL, Lakshmi B, Kendall JT, Yamrom B, Alex G, Pai D, Navin N, Hufnagel LA, Lee YH, Cook K, Allen SL, Rai KR, Damle RN, Calissano C, Chiorazzi N, Wigler M, Esposito D.

Blood. 2009 Feb 5;113(6):1294-303. doi: 10.1182/blood-2008-05-158865. Epub 2008 Oct 15.

11.

Strong association of de novo copy number mutations with autism.

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M.

Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

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