Publication

*, co-first   #, corresponding
[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.

[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.

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