*, co-first   #, corresponding

[150] Li G*, Yang X*, Wang L*, Pan Y, Chen S, Shang L, Zhang Y, Wu Y, Zhou Z, Chen Q, Zhang X, Zhang L, Wang Y, Li J, Jin L,  Wu Y, Zhang X#,  Zhang F(2022) Haploinsuffciency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice. Journal of Medical Genetics 59(6):579-588.

[149] Zhang X*, Wang L*, Ma Y*, Wang Y*, Liu H*, Liu M*, Qin L*, Li J, Jiang C, Zhang X, Shan X, Liu Y, Li J, Li Y, Zheng R, Sun Y, Sun J, Leng X, Liang Y, Zhang F, Jiang X#, Yang Y#, Shen Y# (2022) CEP128 is involved in spermatogenesis in humans and mice. Nature Communications 13(1):1395.

[148] Qian H, Xu Q, Yan W, Fan Y, Li Z, Tao C, Zhang F, Lu C# (2022) Association between exposure to ambient air pollution and semen quality in adults: a meta-analysis. Environmental Science and Pollution Research 29(7):10792-10801.

[147] Cong J*, Yang Y*, Wang X*, Shen Y*, Qi HT*, Liu C, Tang S, Wu S, Tian S, Zhou Y, He X, Wang L, Liu MF#,  Zhang F(2022) Deficiency of X-linked TENT5D causes male infertility by disrupting the mRNA stability during spermatogenesis. Cell Discovery 8(1):23.

[146] Wang Q*, Chen Q*, Zhang Y*, Zhang X, Liu C, Wang D, Wu Y, Sun Y, Zhang L, Song C, Wang Y, An Y, Tang H, Xu C, Wu Y, Jin L, Huang H#,  Zhang F(2022) HSD17B12 dosage insufficiency induced premature ovarian insufficiency in humans and mice. Clinical and Translational Medicine 12(2):e737.

[145] Wang Y*, Chen Q*, Zhang F, Yang X, Shang L, Ren S, Pan Y, Zhou Z, Li G, Fang Y, Jin L,  Wu Y, Zhang X# (2022) Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient. Molecular Genetics & Genomic Medicine 10:e1820.

[144] Lv M*, Liu C*, Ma C*, Yu H*, Shao Z*, Gao Y, Liu Y, Wu H, Tang D, Tan Q, Zhang J, Li K, Xu C, Geng H, Zhang J, Li H, Mao X, Ge L, Fu F, Zhong K, Xu Y, Tao F, Zhou P, Wei Z, He X, Zhang F, Cao Y (2022) Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations. Reproductive Biology and Endocrinology 20(1):5.

[143] Khan K*, Mehmood S*, Liu C*, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN (2022) A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees. American Journal of Medical Genetics A 188A:498-508.

[142] Wang W*, Tian S*, Nie H, Tu C, Liu C, Li Y, Li D, Yang X, Meng L, Hu T, Zhang Q, Du J, Fan L, Lu G, Lin G, Zhang F, Tan YQ (2021) CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis. Human Molecular Genetics 30(23):2240-2254.

[141] Wang J, Zhou S, He F, Zhang X, Lu J, Zhang J, Zhang F, Xu X, Yang F, Xiong F (2021) Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia. Frontiers in Genetics 12:741607.

[140] Liu C*, Ajmal M*, Akram Z, Ghafoor T, Farhan M, Shafique S, Wahid S, Bano S, Xiao J, Satti HS, Zhang F, Khan TN# (2021) Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants. BMC Medical Genomics 14(1):264.

[139] Zhang J*, He X*, Wu H*, Zhang X*, Yang S*, Liu C*, Liu S, Hua R, Zhou S, Zhao S, Hu F, Zhang J, Liu W, Cheng H, Gao Y, Zhang F#, Cao Y#, Liu M# (2021) Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. Human Molecular Genetics 30(21):1996-2011.

[138] Zhou Z*, Yang X*, Pan Y, Shang L, Chen S, Yang J, Jin L, Zhang F#,  Wu Y# (2021) Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associated with ovarian aging. Human Molecular Genetics 30(21):1941-1954.

[137] Yao C, Yang C, Zhao L, Li P, Tian R, Chen H, Guo Y, Huang Y, Zhi E, Zhai J, Sun H, Zhang J, Hong Y, Zhang L , Ji Z, Zhang F, Zhou Z#, Li Z(2021) Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia. Journal of Medical Genetics 58:679-686.

[136] Tu C*, Cong J*, Zhang Q*, He X*, Zheng R*, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ (2021) Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. American Journal of Human Genetics 108(8):1466-1477.

[135] Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D, Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N, Whitfield M, Touré A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang F, Arnoult C, Ray PF, Cao Y, Coutton C (2021) Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. Human Genetics 140(9):1367-1377.

[134] Liu C*, Shen Y, Shen Q, Zhang W, Wang J, Tang S, Wu H, Tian S, Cong J, He X, Jin L, Zhang F, Jiang X, Cao Y (2021) Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility. Cells 10(7):1594.

[133] Pan Y*, Yang X*, Zhang F*, Chen S, Zhou Z, Yin H, Ma H, Shang L, Yang J, Li G, Wang Y, Jin L, Shi Q#,  Wu Y(2021) A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice. Molecular Genetics and Genomics 296(1):103-112.

[132] Zhang J*, Tang S*#, Zhu X, Li P, Lu J, Cong J, Wang L, Zhang F, Li Z# (2021) Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian Journal of Andrology 23(3):288-293.

[131] Gao Y, Tian S, Sha Y, Zha X, Cheng H, Wang A, Liu C, Lv M, Ni X, Li Q, Wu H, Tan Q, Tang D, Song B, Ding D, Cong J, Xu Y, Zhou P, Wei Z, Cao Y, Xu Y# Zhang F#, He X (2021) Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella. Reproductive BioMedicine Online 42(5):963-972.

[130] Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L (2021) Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics 108(2):337-345.

[129] Liu C*, Tu C*, Wang L*, Wu H*, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O’Bryan MK, Cao Y, Tan YQ Zhang F(2021) Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. American Journal of Human Genetics 108(2):309-323.

[128] Zhang B*, Khan I*, Liu C*, Ma A, Khan A, Zhang Y, Zhang H, Kakakhel MBS, Zhou J, Zhang W, Li Y, Ali A, Jiang X, Murtaza G, Khan R, Zubair M, Yuan L, Khan M, Wang L, Zhang F, Wang X, Ma H, Shi Q (2021) Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice. Clinical Genetics 99(1):176-186.

[127] Zhao S*, Zhang Y*, Chen W*, Li W*, Wang S*, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J, Wu N (2021) Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). Journal of Medical Genetics 58(1):41-47.

[126] Song B*, Liu C*, Gao Y*, Marley JL*, Li W, Ni X, Liu W, Chen Y, Wang J, Wang C, Zhou P, Wei Z, He X, Zhang F, Cao Y(2020) Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects. Journal of Genetics and Genomics 47: 713-717.

[125] Liu L, Liu W, Shi Y, Li L, Gao Y, Lei Y, Finnell R, Zhang T, Zhang F, Jin L, Li H, Tao W, Wang H (2020) DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway. Journal of Genetics and Genomics 47(6):301-310.

[124] Jia X, Guan R, Cui X, Zhu J, Liu P, Zhang L, Wang D, Zhang Y, Dong K, Wu J, Ji W, Ji G, Bai J, Yu J, Yu Y, Sun W#, Zhang F#, Fu S# (2020) Molecular structure and evolution mechanism of two populations of double minutes in human colorectal cancer cells. Journal of Cellular and Molecular Medicine 24:14205-14216.

[123] Chen Q, Ke HN, Luo XZ, Wang LB, Wu YH, Tang SY, Li JS, Jin L, Zhang F#, Qing YY#, Chen XJ# (2020) Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause. Human Molecular Genetics 29(16):2698-2707.

[122] Yang N*, Wu N*, Dong S*, Zhang L*, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Jia R, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR,  Zhang F(2020) Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney International 98:1020-1030.

[121] Xin A*, Qu R*, Chen G*, Zhang L*, Chen J , Tao C, Fu J, Tang J, Ru Y, Chen Y, Peng X, Shi H#, Zhang F#, Sun X# (2020) Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest. Science Advances 6(35):eaaz4796.

[120] He X*, Liu C*, Yang X*, Lv M*, Ni X*, Li Q*, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F#, Cao Y# (2020) Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice. American Journal of Human Genetics 107:514-526.

[119] Liu C*, Miyata H*, Gao Y*, Sha Y*, Tang S*, Xu Z*, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Touré A, Zhang F#, Ikawa M# (2020) Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility. American Journal of Human Genetics 107:330-341.

[118] Ye J, Tong Y, Lv J, Peng R, Chen S, Kuang L, Su K, Zheng Y, Zhang T, Zhang F, Jin L, Yang X, Wang H (2020) Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects. Human Mutation 41: 1383-1393.

[117] Lv M*, Liu W*, Chi W*, Ni X*, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X#, Zhang F #, Cao Y# (2020) Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF. Journal of Medical Genetics 57:445-453.

[116] Ni X, Wang J, Lv M, Liu C, Zhong Y, Tian S, Wu H, Cheng H, Gao Y, Tan Q, Chen B, Li Q, Song B, Wei Z, Zhou P, He X#, Zhang F #, Cao Y# (2020) A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia. Journal of Assisted Reproduction and Genetics 37(6):1431-1439.

[115] Wu H, Gao Y, Ma C, Shen Q, Wang J, Lv M, Liu C, Cheng H, Zhu F, Tian S, Elshewy N, Ni X, Tan Q, Xu X, Zhou P, Wei Z, Zhang F, He X, Cao Y (2020) A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens. Journal of Assisted Reproduction and Genetics 37(6):1421-1429.

[114] Ren X*, Yang N*, Wu N*, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J#, Zhang F #, Liu P (2020) Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice. Journal of Medical Genetics 57(6):371-379.

[113] Jia Y, Niu ZG, Li WY, Qin Q, Sun TT, Zhang F, Liu SR (2020) A fertile male with a single sY86 deletion on the Y chromosome. Asian Journal of Andrology 22(3):333-334.

[112] Wu H, Wang J, Cheng H, Gao Y, Liu W, Zhang Z, Jiang H, Li W, Zhu F, Lv M, Liu C, Tan Q, Zhang X, Wang C, Ni X, Chen Y, Song B, Zhou P, Wei Z, Zhang F, He X, Cao Y (2020) Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection. Journal of Assisted Reproduction and Genetics 37(4):829-840.

[111] Li W, Wu H, Li F, Tian S, Kherraf ZE, Zhang J, Ni X, Lv M, Liu C, Tan Q, Shen Y, Amiri-Yekta A, Cazin C, Zhang J, Liu W, Zheng Y, Cheng H, Wu Y, Wang J, Gao Y, Chen Y, Zha X, Jin L, Liu M, He X, Ray PF,Cao Y#, Zhang F# (2020) Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. Journal of Medical Genetics 57(2):89-95.

[110] Zhang B, Ma H, Khan T, Ma A, Li T, Zhang H, Gao J, Zhou J, Li Y, Yu C, Bao J, Ali A, Murtaza G, Yin H, Gao Q, Jiang X, Zhang F, Liu C, Khan I, Zubair M, Hussain HMJ, Khan R, Yousaf A, Yuan L, Lu Y, Xu X, Wang Y, Tao Q, Hao Q, Fang H, Cheng H, Zhang Y, Shi Q (2020) A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. Journal of Experimental Medicine 217(2):e20182365.

[109] Xie Y, Wang Q, Gao N, Wu F, Lan F, Zhang F, Jin L, Huang Z, Ge J, Wang H, Wang Y (2020) MircroRNA-10b Promotes Human Embryonic Stem Cell-Derived Cardiomyocyte Proliferation via Novel Target Gene LATS1. Molecular Therapy: Nucleic Acids 19:437-445.

[108] Huo X, Ji L, Zhang Y, Lv P, Cao X, Wang Q, Yan Z, Dong S, Du D, Zhang F, Wei G, Liu Y, Wen B (2020) The Nuclear Matrix Protein SAFB Cooperates with Major Satellite RNAs to Stabilize Heterochromatin Architecture Partially through Phase Separation. Molecular Cell 77(2):368-383.

[107] Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N (2020) TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human Mutation 41(1):182-195.

[106] Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR (2020) Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome. Human Mutation 41(1):150-168.

[105] Wang L*, Zhang Y*, Fu X*, Dong S*, Tang S, Zhang N, Song C, Yang N, Zhang L, Wang H, Shi H, Jin L, Zhang F#, Li J#, Hua K# (2020) Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies. Cell Research 30(1):91-94.

[104] 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# (2020) Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. Journal of Medical Genetics 57(1):31-37.

[103] Liu C, He X, Liu W, Yang S, Wang L, Li W, Wu H, Tang S, Ni X, Wang J, Gao Y, Tian S, Zhang L, Cong J, Zhang Z, Tan Q, Zhang J, Li H, Zhong Y, Lv M, Li J, Jin L, Cao Y#, Zhang F# (2019) Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. American Journal of Human Genetics 105:1168-1181.

[102] Jiang Q, Wang Y, Li Q, Zhang Z, Xiao P, Wang H, Liu N, Wu J, Zhang F, Chakravarti A, Cai W, Li L (2019) Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations. Orphanet Journal of Rare Diseases 14(1):237.

[101] Yang X*, Zhang X*, Jiao J*, Zhang F*, Pan Y, Wang Q, Chen Q, Cai B, Tang S, Zhou Z, Chen S, Yin H, Fu W, Luo Y, Li D, Li G, Shang L, Yang J, Jin L, Shi Q, Wu Y (2019) Rare variants in FANCA induce premature ovarian insufficiency. Human Genetics 138(11-12):1227-1236.

[100] Chen K, Dong SS, Wu N, Wu ZH, Zhou YX, Li K, Zhang F#, Xiao JH# (2019) A novel multiplex fluorescent competitive PCR for copy number variation detection. Genomics 111(6):1745-1751.

[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.

[41] Zhou W*, Zhang F*,#, Chen X, Shen Y, Lupski JR, Jin L (2013) Increased genome instability in human DNA segments with self chains: homology-induced structural variations via replicative mechanisms. Human Molecular Genetics 22(13):2642-2651.

[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.

[37] Du R*, Lu C*, Jiang Z*, Li S, Ma R, An H, Xu M, An Y, Xia Y, Jin L, Wang X, Zhang F# (2012) Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. Journal of Human Genetics 57:545-551.

[36] Ning Y, Zhang F, Zhu Y, Chen H, Lu J, and Li Z (2012) Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome. Urology 80:216-218.

[35] Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X (2012) NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Human Genetics 131(7):1217-1224.

[34] Lu C*, Zhang F*, Yang H, Xu M, Du G, Wu W, An Y, Qin Y, Ji G, Han X, Gu A, Xia Y, Song L, Wang S, Jin L, Wang X (2011) Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population. Human Molecular Genetics 20(22):4411-4421.

[33] Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR (2011) Frequency of nonallelic homologous recombination is correlated with length of homology: Evidence that ectopic synapsis precedes ectopic crossing-over. American Journal of Human Genetics 89(4):580-588.

[32] Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W (2011) Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 146(6):889-903.

[31] Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X (2011) X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. American Journal of Human Genetics 88(6):819-826.

[30] Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR (2011) Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genetics in Medicine 13(6):582-592.

[29] Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley K, Potocki L (2011) Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. Journal of Pediatrics 158(4):655-659.

[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.

[24] Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR (2010) Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: Rare CNVs as a cause for missing heritability. American Journal of Human Genetics 86(6):892-903.

[23] Lupski JR, Reid JG, Gonzaga-Jauregui C, Deiros DR, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine 362(13):1181-1191.

[22] Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR (2010) Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. American Journal of Human Genetics 86(3):462-470.

[21] Carvalho CM, Zhang F, Lupski JR (2010) Genomic disorders: A window into human gene and genome evolution. Proceedings of the National Academy of Sciences of the United States of America 107:1765-1771.

[20] Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY (2009) Autism and other neuropsychiatric symptoms are prevalent in individuals with MECP2 duplication syndrome. Annals of Neurology 66(6):771-782.

[19] Nagamani SC*, Zhang F*, Shchelochkov OA, Bi W, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P (2009) Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Journal of Medical Genetics 46(12):825-833.

[18] Zhang F, Gu W, Hurles ME, Lupski JR (2009) Copy number variation in human health, disease, and evolution. Annual Review of Genomics and Human Genetics 10:451-481.

[17] Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR (2009) Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. Journal of Medical Genetics 46(9):626-634.

[16] Zhang F, Carvalho CM, Lupski JR (2009) Complex human chromosomal and genomic rearrangements. Trends in Genetics 25(7):298-307.

[15] Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR (2009) The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nature Genetics 41(7):849-853.

[14] Lu C, Zhang J, Li Y, Xia Y, Zhang F, Wu B, Wu W, Ji G, Gu A, Wang S, Jin L, Wang X (2009) The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Human Molecular Genetics 18(6):1122-1130.

[13] Lin R, Wang X, Wang Y, Zhang F, Wang Y, Fu W, Yu T, Li S, Xiong M, Huang W, Jin L (2009) Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. Human Mutation 30(4):609-615.

[12] Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR (2009) Complex rearrangements in patients with duplications of MECP2 can occur by Fork Stalling and Template Switching. Human Molecular Genetics 18(12):2188-2203.

[11] Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore D, Horner H, Lu X, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O (2009) Increased LIS1 expression affects human and mouse brain. Nature Genetics 41(2):168-177.

[10] Xue F, Wang Y, Xu S, Zhang F, Wen B, Wu X, Lu M, Deka R, Qian J, Jin L (2008) A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages. European Journal of Human Genetics 16(6):705-717.

[9] Shi H, Zhong H, Peng Y, Dong YL, Qi XB, Zhang F, Liu LF, Tan SJ, Ma RL, Xiao CJ, Wells S, Jin L, Su B (2008) Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations. BMC Biology 6:45.

[8] Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B (2008) The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. American Journal of Medical Genetics A 146(7):917-924.

[7] Zhang Q, Zhang F, Chen XH, Wang YQ, Wang WQ, Lin AA, Cavalli-Sforza LL, Jin L, Huo R, Sha JH, Li Z, Su B (2007) Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12. Journal of Molecular Evolution 65(2):154-161.

[6] Lu C*, Zhang F*, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X (2007) The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese. Journal of Human Genetics 52(8):659-663.

[5] Zhang F*, Lu C*, Li Z, Xie P, Xia Y, Zhu X, Wu B, Cai X, Wang X, Qian J, Wang X, Jin L (2007) Partial deletions are associated with an increased risk of complete deletion in AZFc: A new insight into the role of partial AZFc deletions in male infertility. Journal of Medical Genetics 44(7):437-444.

[4] Zhang F, Su B, Zhang YP, Jin L (2007) Genetic studies of human diversity in East Asia. Philosophical Transactions of the Royal Society B: Biological Sciences 362(1482):987-995.

[3] Zhang F*, Li Z*, Wen B, Jiang J, Shao M, Zhao Y, He Y, Song X, Qian J, Lu D, Jin L (2006) A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Annals of Human Genetics 70(3):304-313.

[2] Wen B, Li H, Gao S, Mao X, Gao Y, Li F, Zhang F, He Y, Dong Y, Zhang Y, Huang W, Jin J, Xiao C, Lu D, Chakraborty R, Su B, Deka R, Jin L (2005) Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages. Molecular Biology and Evolution 22(3):725-734.

[1] Wen B, Li H, Lu D, Song X, Zhang F, He Y, Li F, Gao Y, Mao X, Zhang L, Qian J, Tan J, Jin J, Huang W, Deka R, Su B, Chakraborty R, Jin L (2004) Genetic evidence supports demic diffusion of Han culture. Nature 431(7006):302-305.