Dong Li

Dr. Li is a Research Scientist at CAG. Since his arrival at CAG in 2011, his role has included managing several collaborations focused on resolving the genetic causes of complex diseases of unknown etiology (most of which are rare).

Dr. Li previously trained as a bioinformatician in BGI for 3 years. He received his Ph.D. in Biochemistry and Molecular Biology from Southwest University at Chongqing, China in 2011


CAG Publications

An updated list of publications is available at My NCBI Collections.
Relevant papers include:

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH.
Am J Med Genet A. 2015 Jun 25. doi: 10.1002/ajmg.a.37217. [Epub ahead of print]

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X.
Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, et al.
Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.
J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
Clin Experiment Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2.

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Li D, Opas EE, Tuluc F, Metzger DL, Hou C, Hakonarson H, Levine MA.
J Clin Endocrinol Metab. 2014 Sep;99(9):E1774-83. doi: 10.1210/jc.2014-1029. Epub 2014 May 13.

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.
Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30.

Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L; GCAN; WTCCC3, Sullivan PF, Bulik CM, Collier DA, Tyler-Smith C, Zeggini E, Tachmazidou I; GCAN; WTCCC3.
Eur J Hum Genet. 2014 Oct;22(10):1190-200. doi: 10.1038/ejhg.2014.1. Epub 2014 Feb 19.

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11.

A genome-wide association study of anorexia nervosa.
Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, et al.
Mol Psychiatry. 2014 Oct;19(10):1085-94. doi: 10.1038/mp.2013.187. Epub 2014 Feb 11.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, et al.
Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.

Other Publications

Draft genome sequence of the mulberry tree Morus notabilis.
He N, Zhang C, Qi X, Zhao S, Tao Y, Yang G, Lee TH, Wang X, Cai Q, Li D, Lu M, Liao S, Luo G, He R, Tan X, Xu Y, Li T, Zhao A, Jia L, Fu Q, Zeng Q, Gao C, et al.
Nat Commun. 2013;4:2445. doi: 10.1038/ncomms3445.

Molecular footprints of domestication and improvement in soybean revealed by whole genome re-sequencing.
Li YH, Zhao SC, Ma JX, Li D, Yan L, Li J, Qi XT, Guo XS, Zhang L, He WM, Chang RZ, Liang QS, Guo Y, Ye C, Wang XB, Tao Y, Guan RX, Wang JY, Liu YL, Jin LG, Zhang XQ, Liu ZX, et al.
BMC Genomics. 2013 Aug 28;14:579. doi: 10.1186/1471-2164-14-579.

Draft genome of the wheat A-genome progenitor Triticum urartu.
Ling HQ, Zhao S, Liu D, Wang J, Sun H, Zhang C, Fan H, Li D, Dong L, Tao Y, Gao C, Wu H, Li Y, Cui Y, Guo X, Zheng S, Wang B, Yu K, Liang Q, Yang W, Lou X, Chen J, et al.
Nature. 2013 Apr 4;496(7443):87-90. doi: 10.1038/nature11997. Epub 2013 Mar 24.

Aegilops tauschii draft genome sequence reveals a gene repertoire for wheat adaptation.
Jia J, Zhao S, Kong X, Li Y, Zhao G, He W, Appels R, Pfeifer M, Tao Y, Zhang X, Jing R, Zhang C, Ma Y, Gao L, Gao C, Spannagl M, Mayer KF, Li D, Pan S, Zheng F, Hu Q, Xia X, et al.
Nature. 2013 Apr 4;496(7443):91-5. doi: 10.1038/nature12028. Epub 2013 Mar 24.

Whole-genome sequencing of giant pandas provides insights into demographic history and local adaptation.
Zhao S, Zheng P, Dong S, Zhan X, Wu Q, Guo X, Hu Y, He W, Zhang S, Fan W, Zhu L, Li D, Zhang X, Chen Q, Zhang H, Zhang Z, Jin X, Zhang J, Yang H, Wang J, Wang J, Wei F.
Nat Genet. 2013 Jan;45(1):67-71. doi: 10.1038/ng.2494. Epub 2012 Dec 16.

Identification and characterization of Sox genes in the silkworm, Bombyx mori.
Wei L, Cheng D, Li D, Meng M, Peng L, Tang L, Pan M, Xiang Z, Xia Q, Lu C.
Mol Biol Rep. 2011 Jun;38(5):3573-84. doi: 10.1007/s11033-010-0468-5. Epub 2010 Dec 15.

Genome-wide patterns of genetic variation among elite maize inbred lines.
Lai J, Li R, Xu X, Jin W, Xu M, Zhao H, Xiang Z, Song W, Ying K, Zhang M, Jiao Y, Ni P, Zhang J, Li D, Guo X, Ye K, Jian M, Wang B, Zheng H, Liang H, Zhang X, Wang S, et al.
Nat Genet. 2010 Nov;42(11):1027-30. doi: 10.1038/ng.684. Epub 2010 Oct 24.

Single base-resolution methylome of the silkworm reveals a sparse epigenomic map.
Xiang H, Zhu J, Chen Q, Dai F, Li X, Li M, Zhang H, Zhang G, Li D, Dong Y, Zhao L, Lin Y, Cheng D, Yu J, Sun J, Zhou X, Ma K, He Y, Zhao Y, Guo S, Ye M, Guo G, et al.
Nat Biotechnol. 2010 May;28(5):516-20. doi: 10.1038/nbt.1626. Epub 2010 May 2. Erratum in: Nat Biotechnol. 2010 Jul;28(7):756.

Genetic diversity, molecular phylogeny and selection evidence of the silkworm mitochondria implicated by complete resequencing of 41 genomes.
Li D, Guo Y, Shao H, Tellier LC, Wang J, Xiang Z, Xia Q.
BMC Evol Biol. 2010 Mar 24;10:81. doi: 10.1186/1471-2148-10-81.

BmSE, a SINE family with 3' ends of (ATTT) repeats in domesticated silkworm (Bombyx mori).
Xu J, Liu T, Li D, Zhang Z, Xia Q, Zhou Z.
J Genet Genomics. 2010 Feb;37(2):125-35. doi: 10.1016/S1673-8527(09)60031-X.

MicroRNAs of Bombyx mori identified by Solexa sequencing.
Liu S, Li D, Li Q, Zhao P, Xiang Z, Xia Q.
BMC Genomics. 2010 Mar 3;11:148. doi: 10.1186/1471-2164-11-148.

BmHrp28 is a RNA-binding protein that binds to the female-specific exon 4 of Bombyx mori dsx pre-mRNA.
Wang Z, Zhao M, Li D, Zha X, Xia Q, Xiang Z, He N.
Insect Mol Biol. 2009 Nov;18(6):795-803. doi: 10.1111/j.1365-2583.2009.00943.x. Epub 2009 Oct 22.

Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
Xia Q, Guo Y, Zhang Z, Li D, Xuan Z, Li Z, Dai F, Li Y, Cheng D, Li R, Cheng T, Jiang T, Becquet C, Xu X, Liu C, Zha X, Fan W, Lin Y, Shen Y, Jiang L, Jensen J, Hellmann I, et al.
Science. 2009 Oct 16;326(5951):433-6. doi: 10.1126/science.1176620. Epub 2009 Aug 27.

The diploid genome sequence of an Asian individual.
Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, Fan W, Zhang J, Li J, Zhang J, Guo Y, Feng B, Li H, Lu Y, Fang X, Liang H, Du Z, Li D, Zhao Y, Hu Y, Yang Z, Zheng H, et al.
Nature. 2008 Nov 6;456(7218):60-5. doi: 10.1038/nature07484.