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Items: 4

1.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
2.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP.

Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197.

3.

Re-engineered RNA-Guided FokI-Nucleases for Improved Genome Editing in Human Cells.

Havlicek S, Shen Y, Alpagu Y, Bruntraeger MB, Zufir NB, Phuah ZY, Fu Z, Dunn NR, Stanton LW.

Mol Ther. 2017 Feb 1;25(2):342-355. doi: 10.1016/j.ymthe.2016.11.007.

4.

Infant feeding effects on early neurocognitive development in Asian children.

Cai S, Pang WW, Low YL, Sim LW, Sam SC, Bruntraeger MB, Wong EQ, Fok D, Broekman BF, Singh L, Richmond J, Agarwal P, Qiu A, Saw SM, Yap F, Godfrey KM, Gluckman PD, Chong YS, Meaney MJ, Kramer MS, Rifkin-Graboi A; GUSTO Study Group.

Am J Clin Nutr. 2015 Feb;101(2):326-36. doi: 10.3945/ajcn.114.095414. Epub 2014 Dec 10.

PMID:
25646330

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