Publication

*, co-first   #, corresponding

[100] Liu C*, Lv M*, He X*, Zhu Y*, Amiri-Yekta A, Li W, Wu H, Kherraf ZE, Liu W, Zhang J, Tan Q, Tang S, Zhu YJ, Zhong Y, Li C, Tian S, Zhang Z, Jin L, Ray P*, Zhang F#, Cao Y# (2019) Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. Journal of Medical Genetics doi: 10.1136/jmedgenet-2019-106011.

[99] Liu J*, Wu N*; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N*, Takeda K*, Chen W*, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G (2019) TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genetics in Medicine 21(7):1548–1558.

[98] Zhang L*, Xu X*, Sun K*, Sun J, Wang Y, Liu Y, Yang N, Tao C, Cai B, Shi G, Zhang F, Shi J (2019) A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. American Journal of Medical Genetics 179(6):936-939.

[97] Wu H, Li W, He X, Liu C, Fang Y, Zhu F, Jiang H, Liu W, Song B, Wang X, Zhou P, Wei Z, Zhang F#, Cao Y# (2019) Novel CFAP43 and CFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). Reproductive BioMedicine Online 38(5):769-778.

[96] Liu W*, He X*, Yang S*, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y#, Zhang F# (2019) Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. American Journal of Human Genetics 104(4):738-748.

[95] Dong S*, Wang C*, Li X, Shen Q, Fu X, Wu M, Song C, Yang N, Wu Y, Wang H, Jin L, Xu H#, Zhang F# (2019) Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. Molecular Genetics and Genomics 294(2):493-500.

[94] Qin Y, Zhang F, Chen ZJ (2019) BRCA2 in Ovarian Development and Function. New England Journal of Medicine 380(11):1086.

[93] He X*, Li W*, Wu H*, Lv M, Liu W, Liu C, Zhu F, Li C, Fang Y, Yang C, Cheng H, Zhang J, Tan J, Chen T, Tang D, Song B, Wang X, Zha X, Wang H, Wei Z, Yang S, Saiyin H, Zhou P, Jin L, Wang J, Zhang Z, Zhang F#, Cao Y# (2019) Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella. Journal of Medical Genetics 56(2):96-103.

[92] Yang N*, Wu N*, Zhang L*, Zhao Y, Liu J, Liang X, Ren X, Li W, Chen W, Dong S, Zhao S, Lin J, Xiang H, Xue H, Chen L, Sun H, Zhang J, Shi J, Zhang S, Lu D, Wu X, Jin L, Ding J, Qiu G, Wu Z, Lupski JR, Zhang F# (2019) TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Human Molecular Genetics 28(4):539-547.

[91] Liu W*, Wu H*, Wang L*, Yang X, Liu C, He X, Li W, Wang J, Chen Y, Wang H, Gao Y, Tang S, Yang S, Jin L, Zhang F#, Cao Y# (2019) Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia. Journal of Genetics and Genomics 46(1):53-56.

[90] Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF (2019) Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. American Journal of Human Genetics 104(2):331-340.

[89] Wang Q, Li D, Cai B, Chen Q, Li C, Wu Y, Jin L, Wang X, Zhang X#, Zhang F# (2019) Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations. Human Genetics 138(1):83-92.

[88] Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W (2019) Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. Nature Communications 10(1):433.

[87] Li W*, He X*, Yang S*, Liu C,Wu H, Liu W, Lv M, Tang D, Tan J, Tang S, Chen Y, Wang J, Zhang Z, Wang H, Jin L, Zhang F#, Cao Y#  (2019) Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. Journal of Human Genetics 64(1):49-54.

[86] Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S (2019) The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature Genetics 51(1):117-127.

[85] Jin L, Wan W, Wang L, Wang C, Xiao J, Zhang F, Zhao J, Wang J, Zhan C, Zhong C (2018) Elevated microRNA-520d-5p in the serum of patients with Parkinson’s disease, possibly through regulation of cereloplasmin expression. Neuroscience Letters 687:88-93.

[84] Ge L, Liu A, Gao K, Du R, Ding J, Mao B, Hua Y, Zhang X, Tan D, Yang H, Fu X, Fan Y, Zhang L, Song S, Wu J, Zhang F, Jiang Y, Wu X, Xiong H (2018) Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. Scientific Reports 8(1):14989.

[83] Jiang Q, Liu F, Miao C, Li Q, Zhang Z, Xiao P, Su L, Yu K, Chen X, Zhang F, Chakravarti A, Li L (2018) RET somatic mutations are underrecognized in Hirschsprung disease. Genetics in Medicine 20(7):770-777.

[82] Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G, DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study, Zhang F, Wu Z, Lupski JR, Wu N (2018) The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Human Genetics 137(6-7):553-567.

[81] Liu Z, Liu J, Liu G, Cao W, Liu S, Chen Y, Zuo Y, Chen W, Chen J, Zhang Y, Huang S, Qiu G, Giampietro PF, Zhang F,Wu Z, Wu N (2018) Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. Journal of International Medical Research 46(6):2445-2457.

[80] Fan H, Lv P, Huo X, Wu J, Wang Q, Cheng L, Liu Y, Tang QQ, Zhang L, Zhang F, Zheng X, Wu H, Wen B (2018) The nuclear matrix protein HNRNPU maintains 3D genome architecture globally in mouse hepatocytes. Genome Research 28(2):192-202.

[79] Wang F, Liu D, Zhang RR, Yu LW, Zhao JY, Yang XY, Jiang SS, Ma D, Qiao B, Zhang F, Jin L, Gui YH, Wang HY (2017) A TBX5 3′UTR variant increases the risk of congenital heart disease in the Han Chinese population. Cell Discovery 3:17026.

[78] Huang J, Zhou S, Niu X, Hu B, Li Q, Zhang F, Zhang X, Cai X, Lou Y, Liu F, Xu C, Wang Y (2017) Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation. Stem Cell Research & Therapy 8(1):196.

[77] Lu J*,Lou H*, Fu R*, Lu D*, Zhang F*, Wu Z, Zhang X, Li C, Fang B, Pu F, Wei J, Wei Q, Zhang C, Wang X, Lu Y, Yan S, Yang Y, Jin L#, Xu S# (2017) Assessing genome-wide copy number variation in the Han Chinese population. Journal of Medical Genetics 54:685-692.

[76] Hu W, Chen M, Ji J, Qin Y, Zhang F, Xu M, Wu W, Du G, Wu D, Han X, Jin L, Xia Y, Lu C, Wang X (2017) Interaction between Y chromosome haplogroup O3* and 4-n-octylphenol exposure reduces the susceptibility to spermatogenic impairment in Han Chinese. Ecotoxicology and Environmental Safety 144:450-455.

[75] Zhang CLu J, Lou H, Du R, Xu S, Shen Y, Zhang F#, Jin L# (2017) CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data. Journal of Genetics and Genomics 44:367-370.

[74] Tang S*, Wang X*, Li W*, Yang X*, Li Z*, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S#, Zhang F# (2017) Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. American Journal of Human Genetics 100(6):854-864.

[73] Dong Z, Li Y, Zhou J, Jiang S, Wang Y, Chen Y, Zhao D, Yang C, Qian Q, Ma Y, He H, Ji H, Yang Y, Wang X, Xu X, Pang Y, Zou H, Jin L, Zhang F, Wang J (2017) Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout. Protein Cell 8(6):467-470.

[72] Zhang L*, Wang J*, Zhang C, Li D, Carvalho CM, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F#, Jiang Y# (2017) Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Human Molecular Genetics 26(10):1927-1941.

[71] Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR (2017) An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168(5):830-842.

[70] Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z (2016) Progress and perspective of TBX6 gene in congenital vertebral malformations. Oncotarget 7(35):57430-57441.

[69] Guan J, Wang D, Cao W, Zhao Y, Du R, Yuan H, Liu Q, Lan L, Zong L, Yang J, Yin Z, Han B, Zhang F, Wang Q (2016) SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. Journal of Human Genetics 61(11):917-922.

[68] Zhu XB*, Lu JQ*, Zhi EL, Zhu Y, Zou SS, Zhu ZJ, Zhang F, Li Z (2016) Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese. Journal of Assisted Reproduction and Genetics 33(8):1099-104.

[67] Guo S, Li Y, Wang Y, Chu H, Chen Y, Liu Q, Guo G, Tu W, Wu W, Zou H, Yang L, Xiao R, Ma Y, Zhang F, Xiong M, Jin L, Zhou X, Wang J (2016) Copy Number Variation of HLA-DQA1 and APOBEC3A/3B Contribute to the Susceptibility of Systemic Sclerosis in the Chinese Han Population. Journal of Rheumatology 43(5):880-886.

[66] Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X (2016) Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families. Molecular Genetics and Genomics 291(3):1443-1450.

[65] Liu Z, Li X, Zhang JT, Cai YJ, Cheng TL, Cheng C, Wang Y, Zhang CC, Nie YH, Chen ZF, Bian WJ, Zhang L, Xiao J, Lu B, Zhang YF, Zhang XD, Sang X, Wu JJ, Xu X, Xiong ZQ, Zhang F, Yu X, Gong N, Zhou WH, Sun Q, Qiu Z (2016) Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature 530(7588):98-102.

[64] An Y, Duan W, Huang G, Chen X, Li L, Nie C, Hou J, Gui Y, Wu Y, Zhang F, Shen Y, Wu B, Wang H (2016) Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population. BMC Medical Genomics 9(1):2.

[63] Ding J, Zhao D, Du R, Zhang Y, Yang H, Liu J, Yan C, Zhang F, Xiong H (2016) Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. Brain and Development 38(2):242-249.

[62] Fu Y, Lv P, Yan G, Fan H, Cheng L, Zhang F, Dang Y, Wu H, Wen B (2015) MacroH2A1 associates with nuclear lamina and maintains chromatin architecture in mouse liver cells. Scientific Reports 5:17186.

[61] Zhang F, Lupski JR (2015) Non-coding genetic variants in human disease. Human Molecular Genetics 24(R1):R102-R110.

[60] English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA (2015) Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16(1):286.

[59] Zhao N*, Xiao J*, Zheng Z*, Fei G, Zhang F, Jin L, Zhong C (2015) Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson’s disease. Neuroscience Bulletin 31:245-256.

[58] Zhang H, Dai L, Chen N, Zang L, Leng X, Du L, Wang J, Jiang Y, Zhang F, Wu X, Wu Y (2015) Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-upPLoS One 10(3):e0118001.

[57] Wu N*, Ming X*, Xiao J*, Wu Z*, Chen X*, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G#, Zhang F(2015) TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis. New England Journal of Medicine 372(4):341-350.

[56] Chen L*, Zhou W*, Zhang C, Lupski JR, Jin L, Zhang F# (2015) CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Human Molecular Genetics 24(6):1574-1583.

[55] Peng Z, Zhou W, Fu W, Du R, Jin L, Zhang F# (2015) Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome. Human Molecular Genetics 24(5):1225-1233.

[54] Xiong H, Tan D, Wang S, Song S, Yang H, Gao K, Liu A, Jiao H, Mao B, Ding J, Chang X, Wang J, Wu Y, Yuan Y, Jiang Y, Zhang F, Wu H, Wu X (2015) Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. Clinical Genetics 87:233-243.

[53] Xiao J*, Zhang L*, Wang J, Jiang Y, Jin L, Lu J, Jin L, Zhong C, Xu X, Zhang F# (2014) Rearrangement structure-independent strategy of CNV breakpoint analysis. Molecular Genetics and Genomics 289:755-763.

[52] Chen C, Ma H, Zhang F, Chen L, Xing X, Wang S, Zhang X, Luo Y (2014) Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients. PLoS One 9(9):e108038.

[51] Song X, Guo S, Chen Y, Yang C, Ji H, Zhang F, Jiang Z, Ma Y, Li Y, Jin L, Zou H, Zhou X, Wang J (2014) Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population. Journal of Genetics 93(1):215-218.

[50] Jiang Y, Zhang Y, Zhang P, Zhang F, Xie H, Chan P, Wu X  (2014) NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population. Human Genetics 133(5):675-676.

[49] Zhang X, Du R, Li S, Zhang F, Jin L, Wang H (2014) Evaluation of copy number variation detection for a SNP array platformBMC Bioinformatics 5(1):50.

[48] Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, Divincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR (2014) Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A TriplicationAmerican Journal of Human Genetics 94(3):462-469.

[47] Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM (2014) High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profileEpilepsia 55(2):e6-12.

[46] Chen Y*, Guo L*, Chen J*, Zhao X, Zhou W, Zhang C, Wang J, Jin L#, Pei D#Zhang F# (2014) Genome-wide CNV analysis in mouse induced pluripotent stem cells reveals dosage effect of pluripotent factors on genome integrityBMC Genomics 15:79.

[45] Wang J, Yang Y, Guo S, Chen Y, Yang C, Ji H, Song X, Zhang F, Jiang Z, Ma Y, Li Y, Du A, Jin L, Reveille JD, Zou H, Zhou X (2013) Association between copy number variations of HLA-DQA1 and ankylosing spondylitis in Chinese Han population. Genes and Immunity 14(8):500-503.

[44] Jia X, Zhang F, Bai J, Gao L, Zhang X, Sun H, Sun D, Guan R, Sun W, Xu L, Yue Z, Yu Y, Fu S (2013) Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract. BMC Medical Genetics 14(1):107.

[43] Qu X, Wang P, Ding D, Li L, Wang H, Ma L, Zhou X, Liu S, Lin S, Wang X, Zhang G, Liu S, Liu L, Wang J, Zhang F, Lu D, Zhu H (2013) Zinc-finger-nucleases mediate specific and efficient excision of HIV-1 proviral DNA from infected and latently infected human T cellsNucleic Acids Research 41(16):7771-7782.

[42] Lu C*, Wang Y*, Zhang F*, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X (2013) DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations. Human Reproduction 28(9):2440-2449.

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[40] Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF (2013) Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. American Journal of Human Genetics 92:375-386.

[39] Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F# (2013) Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome. Human Molecular Genetics 22(4):749-756.

[38] Zhang P, Gao Z, Jiang Y, Wang J, Zhang F, Wang S, Yang Y, Xiong H, Zhang Y, Bao X, Xiao J, Wu X, Wu Y (2013) Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration. European Journal of Neurology 20(2):322-330.

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[28] Carvalho CM, Zhang F, Lupski JR (2011) Structural variation of the human genome: mechanisms, assays, and role in male infertility. Systems Biology in Reproductive Medicine 57(1-2):3-16.

[27] Fu W, Zhang F, Wang Y, Gu X, Jin L (2010) Identification of copy number variation hotspots in human populations. American Journal of Human Genetics 87(4):494-504.

[26] Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR (2010) GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics 11(4):465-470.

[25] El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW (2010) Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants. Genetics in Medicine 12(9):573-586.

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