学术任职

美国American Board of Medical Genetics注册认证的分子遗传学、生物化学遗传学学家，并是美国医学遗传学院专家委员
张静澜博士在2019年回国以前是美国专业排名第一得贝勒医学院人类遗传系助理教授，贝勒医学遗传学检验室主任及研发部主任

教育与工作经历

2009年毕业于美国贝勒医学院，获博士学位
曾任美国西奈山医学院、贝勒医学院医学遗传实验室主任（2012年起）‌
现任复旦大学研究员、博士生导师，浙江大学“求是”特聘教授（双聘）‌

主要成就

1. 遗传病筛查技术创新‌
开创隐性遗传病携带者筛查、新生儿代谢病筛查、慢性肾脏病个性化医疗筛查等技术‌；
首次提出并验证“协同等位基因靶向富集测序”技术，实现胎儿染色体非整倍体、微缺失/重复和单基因病的同步无创筛查（NIPT2.0），填补产前单基因病筛查空白‌；
2019年在《Nature Medicine》发表首个基于孕妇外周血游离DNA的无创单基因病筛查技术，获国际高度评价‌。
‌ 2. 致病基因与机制研究‌
发现自噬体调控胚胎脑发育的VPS11基因及其信号通路‌；
通过临床全外显子组测序鉴定多种新致病基因，推动罕见病诊疗发展‌。

所获奖项

1. 国家科技进步二等奖（发育源性疾病和遗传性出生缺陷的机制研究及临床精准防控 完成人：黄荷凤、徐晨明、金丽、吴琰婷、陈松长、张静澜等），2020
2. 上海市科技进步一等奖（发育源性疾病和遗传性出生缺陷的机制研究及临床精准防控 完成人：黄荷凤、徐晨明、张静澜等），2019
3. Top rated abstract at ACMG Annual Clinical Genetics Meeting （Title: Population Carrier Screening for Spinal Muscular Atrophy by Next Generation Sequencing）， 2016
4. Chinese Government Award for Outstanding Self-financed Students Abroad （国家优秀自费留学生）, 2008, The Government of People’s Republic of China
5. John R. Kelsey Jr. Student Award, 2008, Baylor College Medicine

主要研究方向

医学分子遗传学，聚焦遗传性疾病诊断技术开发、无创产前筛查技术（NIPT）创新及致病基因机制研究‌

代表论文

1.Xu C, Li J, Chen S, Cai X, Jing R, Qin X, Pan D, Zhao X, Ma D, Xu X, Liu X, Wang C, Yang B, Zhang L, Li S, Chen Y, Pan N, Tang P, Song J, Liu N, Zhang C, Zhang Z, Qiu X, Lu W, Ying C, Li X, Xu C, Wang Y, Wu Y, Huang HF, Zhang J.*. (2022) Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening. Cell Discov. 2022 Oct 13;8(1):109. *Corresponding author IF=38.08
2.Xu C, Cai X, Chen S, Luo Q, Xi H, Zhang D, Wang H, Wu Y, Huang HF, Zhang J*. (2021) Comprehensive non-invasive prenatal testing for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicenter study. BMJ Open. 11(8):e053617. *Corresponding author IF=2.692
3.Pan N, Chen S, Cai X, Li J, Yu T, Huang HF, Zhang J*, Xu C*. (2021) Low level germline mosaicism of a novel SMARCA2 missense variant: expanding the phenotypic spectrum and mode of genetic transmission. Mol Genet Genom Med. 9(9):e1763. * equally contribute IF= 2.342
4.Zhang J*， Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. (2019) Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-447 *Corresponding author IF=36.13
5.Yasuda M, Gan L, Chen B, Yu C, Zhang J, Goma-Sosa M, Pollak DD, Berger S, Phillips DJ, Edelmann W, Desnick JR (2019) Characterization of Homozygous Hydroxymethylbilane Synthase Knock-in Mouse Model Provides Pathogenic Insights into the Severe Neurological Impairment of Human Homozygous Dominant Acute Intermittent Porphyria. Hum Mol. Genet. doi: 10.1093/hmg/ddz003 IF= 4.544
6.Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. (2018) Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci. 115(51):13039-13044 IF=9.580
7.Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL，Bi W. (2018) Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. Am J Med Genet A.176(4):973-979 IF= 2.197
8.Nadkarni G, Galarneau G, Ellis S, Nadukuru R, Zhang J, Scott S, Schurmann C, Li R, Rasmussen-Torvik L, Kho A, Hayes G, Pacheco J, Manolio T, Chisholm R, Roden D, Denny J, Kenny E, Bottinger E (2017) Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. J Am Coll Cardiol. 69 (12) 1564-1574 IF= 16.834
9.Feng Y, Ge X, Scull J, Meng L, Wen S, Li J, Jin W, Wang X, Mei H, Muzny D, Yang Y, Beaudet A, Eng CM, Xia F, Wong LJ, Zhang J. (2017) The Next-Generation of Population-based Spinal Muscular Atrophy Carrier Screening: Comprehensive Pan-ethnic SMN1 Copy Number and Sequence Variant Analysis by Massively Parallel Sequencing Genet in Med. 19(8):936-944 *Corresponding author IF= 9.980
10.Scott DA, Hernandez-Garcia A, Azamian M, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias ID, Rosenfeld J, Xia F. (2017) Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Gen. 54(1):47-53 IF= 5.751
11.Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L. (2016) A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects PLOS Genet. 12(4):e1005848 IF= 6.100
12.Zhang J*, Fedick A, Wasserman S, Zhao G, Edelmann L, Bottinger EP, Kornreich R, Scott SA (2016) Analytical validation of a personalized medicine APOL1 genotyping assay for non-diabetic chronic kidney disease risk assessment J Mol Diag 18(2) *Corresponding author IF=4.526
13.Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R (2015) ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Gen Med. 7(1):77 IF= 5.846
14.Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. (2011) A LC–MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen J Chrom B. 879(24):2389-96 IF= 2.888
15.Kim B-J*, Li Y*, Zhang J*, Yang T, Jung SY, Wang Y, Pan X, and Qin J (2010) Acetylation of SMC3 by ESCO1 regulates DNA damage response in human cells. J Biol Chem 285(30):22784-92 * equally contribute IF= 5.328
16.Zhang J, Shi X, Li Y, Kim BJ, Jia J, Huang Z, Yang T, Fu X, Jung SY, Wang Y, Zhang P, Kim ST, Pan X, Qin J.(2008) Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast. Mol Cell 31(1):143-51 (Featured article) IF= 12.903
17.Luo H, Li Y, Mu JJ, Zhang J, Tonaka T, Hamamori Y, Jung SY, Wang Y, and Qin J (2008). Regulation of intra-S phase checkpoint by IR-dependent and IR-independent phosphorylation of SMC3. J Biol Chem 283(28):19176-83 IF= 5.52
18.Mu JJ, Wang Y, Luo H, Leng M, Zhang J, Yang T, Besusso D, Jung SY, Qin J. (2007) A proteomic analysis of ataxia telangiectasia-mutated (ATM)/ATM-Rad3-related (ATR) substrates identifies the ubiquitin-proteasome system as a regulator for DNA damage checkpoints. J Biol Chem. 282(24):17330-4. IF= 5.676
19.Zhang J, Simmons C, Yalpani N, Crane V, Wilkinson H, Kolomiets M.(2005) Genomic analysis of the 12-oxo-phytodienoic acid reductase gene family of Zea mays. Plant Mol Biol. 59(2):323-43 IF= 3.328