Publication

*, co-first   ^#, corresponding

[177] Liu C^# , Zhang F(2023) PIWI-specific insertion module: a newly identified regulatory element essential for longer piRNAs loading and male fertility. Science China Life Sciences 66:1708–1710.

[176] Tian S,Wang Z, Liu L, Zhou Y,Lv Y, Tang D, Wang J, Jiang J, Wu H, Tang S, Wang G, Geng H, Tao F, Liu H, He X,Zhang F, Li J, Jin L, Huang T^# , Liu C^# , Cao Y^# (2023) A homozygous frameshift mutation in ADAD2 cause male infertility with spermatogenic impairments. Journal of Genetics and Genomics 50(4):284-288.

[175] Tian S,Tu C, He X, Meng L, Wang J, Tang S,Gao Y, Liu C, Wu H, Zhou Y,Lv M, Lin G, Jin L, Cao Y, Tang D^# , Zhang F^# , Tan YQ^# (2023) Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA. Journal of Medical Genetics 60:827-834.

[174] Liu L*, Tang S*, Zhang F,Jiang F(2023) A novel homozygous loss-of-function mutation in RAD51AP2 induces male infertility with nonobstructive azoospermia. Asian Journal of Andrology 25(3):435-437.

[173] Tao C*,Zhu T*, Tang S*,Lu J, Lin X, Li X, Liu X, Pang Y, Zhao H, Liang J,Zhang F,Lu X, Zhang L(2023) Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia. Clinical Genetics 103:498-500.

[172] Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S,Zhang F, Guo T, Qin Y(2023) Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants. Journal of Ovarian Research 16:39.

[171] Liu C*,Si W*,Tu C*, Tian S*, He X*, Wang S*, Yang X*, Yao C*, Li C, Kherraf ZE, Ye M, Zhou Z, Ma Y, Gao Y, Li Y, Liu Q, Tang S, Wang J, Saiyin H, Zhao L, Yang L, Meng L, Chen B, Tang D, Zhou Y,Wu H, Lv M, Tan C, Lin G, Kong Q, Shi H, Su Z, Li Z, Yao YG, Jin L, Zheng P, Ray PF, Tan YQ, Cao Y^# ,Zhang F^# (2023) Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models. American Journal of Human Genetics 110(3):516-530.

[170] Ke H*, Tang S*,Guo T*, Hou D, Jiao X, Li S, Luo W, Xu B, Zhao S, Li G, Zhang X, Xu S, Wang L, Wu Y, Wang J, Zhang F^# , Qin Y^# , Jin L^# , Chen ZJ^# (2023) Landscape of pathogenic mutations in premature ovarian insufficiency. Nature Medicine 29:483-492.

[169] Liu C*,Shen Y*, Tang S*, Wang J*, Zhou Y*, Tian S, Wu H, Cong J,He X, Jin L, Cao Y, Yang Y^# ,Zhang F^# (2023) Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility. Journal of Medical Genetics60(2):137-143.

[168] Lv M*, Tang D*, Yu H*, Geng H*, Zhou Y*, Shao Z, Li K, Gao Y, Guo S, Xu C, Tan Q, Liu C, Guo R, Wu H, Duan Z, Zhang J, Wang G, Hua R, Fu F, Wang K, Xu Y, Zhou P, Wei Z, Zhang F^# , Cao Y^# ,He X^# (2023) Novel FSIP2 Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in Humans. International Journal of Biological Sciences19(2):393-411.

[167] Liu X, Wang Q, Zhu W, Zhang Z, Tang W, Sheng H, Yang J, Li Y, Liang X, Meng T, Wang Z, Lin F, Dong H, He X, Jiang X, Dai S, Zhang A, Song C, Liang Z, Zhang F, Wang X, Liang P, Gong G, Huai X, Li F, Zhang X(2022) Sperm cryopreservation in the human sperm bank: 11-year results of the Chinese mainland national sperm banking network . Chinese Medical Journal 135(22):2770-2772.

[166] Shang L, Ren S, Yang X, Zhang F, Jin L, Zhang X ^# , Wu Y^# (2022) EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency . European Journal of Medical Genetics 65(10):104597.

[165] Khan A*, Tian S*, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, Baig SM, Malik NA, Zhang F, Khan TN ^# , Liu C^# (2022) NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes. Molecular Genetics and Genomics 297(6):1601-1613.

[164] Yang C*, Lin X*, Ji Z, Huang Y, Zhang L, Luo J, Chen H, Li P, Tian R, Zhi E, Hong Y, Zhou Z^# , Zhang F^# , Li Z^# ,Yao C^# (2022) Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia. Molecular Human Reproduction 28(7):gaac021.

[163] Tao C, Huang Y, Huang X, Li Z, Fan Y, Zhang Y, Wan T, Lu L, Xu Q, Wu W, Wu D, Zhang F^# , Lu C^# (2022) Association between Blood Manganese Levels and Visceral Adipose Tissue in the United States: A Population-Based Study. Nutrients 14(22):4770.

[162] Zhu H, Wang X, Zhang F, Zhu Y, Du MR, Tao ZW, Sun C, Ma HT, Li YD, Liang GQ, Ren J, Feng BL, Jiang F(2022) Evaluation of inactivated COVID-19 vaccine on semen parameters in reproductive-age males: a retrospective cohort study.. Asian Journal of Andrology 24(5):441-444.

[161] Zhu Y, Zhang F, Chen H, Sun X, Jiang F(2022) The use of frozen embryos and frozen sperm have complementary IVF outcomes: a retrospective analysis in couples experiencing IVF/Donor and IVF/Husband . BMC Pregnancy and Childbirth 22(1):776.

[160] Zhu S, Zhu Y, Zhang F, Wu J, Chen Y, Sun Y, Fu J, Wu J, Xiao M, Zhang S, Zhou J, Lei C, Jiang F(2022) FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13;14)(q10;q10) carriers. Frontiers in Genetics 13:1010568.

[159] Qin R, Ding Y, Lu Q, Jiang Y, Du J, Song C, Lv H, Lv S, Tao S, Huang L, Xu X, Liu C, Jiang T, Wang Z, Ma H, Jin G, Xia Y, Hu Z, Zhang F^# , Lin Y^# (2022) Associations of maternal dietary patterns during pregnancy and fetal intrauterine development. Frontiers in Nutrition 9:985665.

[158] Zhang Q*, Tao C*, Gao S, Li S, Xu B, Ke H, Wang Y, Zhang F, Qin Y, Zhang L^#, Guo T^# (2022) Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing. Journal of Clinical Endocrinology and Metabolism 107(9):2589-2597.

[157] Zhu S, Zhu Y, Zhang F, Wu J, Lei C, Jiang F (2022) Comprehensive chromosome FISH assessment of sperm aneuploidy in normozoospermic males. Journal of Assisted Reproduction and Genetics 39(8):1887-1900.

[156] Qin Y, Du Y, Chen L, Liu Y, Xu W, Liu Y, Li Y, Leng J, Wang Y, Zhang XY, Feng J, Zhang F, Jin L, Qiu Z, Gong X, Wang H (2022) A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. Molecular Psychiatry 27(7):2985-2998.

[155] Cong J*, Wang X*, Amiri-Yekta A*, Wang L*, Kherraf ZE, Liu C, Cazin C, Tang S, Hosseini SH, Tian S, Daneshipour A, Wang J, Zhou Y, Zeng Y, Yang S, He X, Li J, Cao Y, Jin L, Ray PF^# ,  Zhang F^# (2022) Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice. Journal of Medical Genetics 59(7):710-718.

[154] Chen M, Zhang Y, Zhang F, Jiang F, Wang X (2022) Psychological State and Decision Perceptions of Male and Female Cancer Patients on Fertility Preservation. Supportive Care in Cancer 30(7):5723-5728.

[153] Man Y, Shang X, Liu C, Zhang W, Huang Q, Ma S, Shiang R, Zhang F, Zhang L, Zhang Z (2022) Whole-Exome Sequencing Identifies the VHL Mutation (c.262T>C, p.Try88Arg) in Non-Obstructive Azoospermia-Associated Cystic Renal Cell Carcinoma. Current Oncology 29(4):2376-2384.

[152] 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.

[151] Zhang F^#  (2022) “Progressive motility” in elucidating novel genetic causes of male infertility. Asian Journal of Andrology 24(3):229-230.

[150] Zhu Y, Zhang F, Cheng H, Sun XX, Jiang F (2022) Modified strict sperm morphology threshold aids in the clinical selection of conventional in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). Asian Journal of Andrology 24(1):62-66.

[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.