中国学者近期发表的论文
1.	Clinical and genetic spectrum of a large cohort of children with epilepsy in China. Author: Yang L1,2, Kong Y3, Dong X2, Hu L3, Lin Y2, Chen X3, Ni Q2, Lu Y2, Wu B2, Wang H2, Lu QR4, Zhou W5,6,7. Journal: Genet Med. 2019 Mar;21(3):564-571. doi: 10.1038/s41436-018-0091-8. Epub 2018 Jun 21.    PubMed      DOI
2.	Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Author: Garbade SF1, Shen N1,2, Himmelreich N1, Haas D1, Trefz FK1, Hoffmann GF1, Burgard P3, Blau N4,5. Journal: Genet Med. 2019 Mar;21(3):580-590. doi: 10.1038/s41436-018-0081-x. Epub 2018 Jul 12.    PubMed      DOI
3.	Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility. Author: Yin H1, Ma H1, Hussain S1, Zhang H1, Xie X1, Jiang L1, Jiang X1, Iqbal F1, Bukhari I1, Jiang H1, Ali A1, Zhong L1, Li T1, Fan S1, Zhang B1, Gao J1, Li Y1, Nazish J1, Khan T1, Khan M1, Zubair M1, Hao Q1, Fang H1, Huang J2, Huleihel M3, Sha J4, Pandita TK5, Zhang Y6, Shi Q7. Journal: Genet Med. 2019 Jan;21(1):266. doi: 10.1038/s41436-018-0127-0.    PubMed      DOI
4.	CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies. Author: Cai H1, Qing X2, Niringiyumukiza JD1, Zhan X3, Mo D4, Zhou Y5, Shang X6,7. Journal: Genet Med. 2019 Apr;21(4):826-836. doi: 10.1038/s41436-018-0262-7. Epub 2018 Sep 14.    PubMed      DOI
5.	A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population. Author: Ma Y1, Han X2, Zhou X1, Li Y3, Gong S1, Zhang S1, Cai X1, Zhou L1, Luo Y1, Li M1, Liu W1, Zhang X1, Ren Q1, Ji L4. Journal: Genet Med. 2019 Apr;21(4):939-947. doi: 10.1038/s41436-018-0282-3. Epub 2018 Sep 24.    PubMed      DOI
6.	TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Author: Liu J1,2,3, Wu N4,5,6,7; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N8,9,10, Takeda K11,12, Chen W1,13, Li W8,9, Du R14, Liu S1,2,15, Zhou Y2,16, Zhang L8,9, Liu Z2,17, Zuo Y1,2,15, Zhao S1,2, Blank R18, Pehlivan D14, Dong S8,9, Zhang J1,2,15, Shen J1,2,15, Si N19,20, Wang Y1, Liu G1,2,15, Li S1, Zhao Y1,2, Zhao H1, Chen Y1,2, Zhao Y1, Song X14, Hu J1, Lin M1,2,13, Tian Y1, Yuan B14, Yu K1, Niu Y2,21, Yu B1, Li X2,21, Chen J1,2, Yan Z1,2,13, Zhu Q1,2, Meng X19,20, Chen X22, Su J23, Zhao X19,20, Wang X20, Ming Y24, Li X25, Raggio CL26, Zhang B1, Weng X1,2,15, Zhang S2,27, Zhang X2,19,20, Watanabe K12, Matsumoto M12; Japan Early Onset Scoliosis Research Group, Jin L8, Shen Y28,29, Sobreira NL30, Posey JE14, Giampietro PF31, Valle D30; Baylor-Hopkins Center for Mendelian Genomics, Liu P14,32, Wu Z2,15,21, Ikegawa S11, Lupski JR14,33,34, Zhang F8,9,10, Qiu G35,36,37. Journal: Genet Med. 2019 Jan 14. doi: 10.1038/s41436-018-0377-x. [Epub ahead of print]    PubMed      DOI
7.	Insights into genetics, human biology and disease gleaned from family based genomic studies. Author: Posey JE1, O'Donnell-Luria AH2,3,4, Chong JX5, Harel T6, Jhangiani SN7, Coban Akdemir ZH8, Buyske S9,10, Pehlivan D8, Carvalho CMB8, Baxter S3, Sobreira N11, Liu P8,12, Wu N8,13, Rosenfeld JA8, Kumar S14, Avramopoulos D11, White JJ8,5, Doheny KF11,15, Witmer PD11,15, Boehm C11, Sutton VR8, Muzny DM7, Boerwinkle E7,16, Günel M17,18, Nickerson DA19, Mane S20, MacArthur DG2,3, Gibbs RA8,7, Hamosh A11, Lifton RP17,21,22, Matise TC9, Rehm HL2,3, Gerstein M14, Bamshad MJ5,19, Valle D11, Lupski JR23,24,25,26; Centers for Mendelian Genomics. Journal: Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18.    PubMed      DOI
8.	Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis. Author: Li Q1, Zhao K1, Bustamante CD2,3, Ma X4,5, Wong WH6,7. Journal: Genet Med. 2019 Jan 24. doi: 10.1038/s41436-019-0439-8. [Epub ahead of print]    PubMed      DOI
9.	Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Author: van der Sluijs PJ1, Jansen S2, Vergano SA3, Adachi-Fukuda M4, Alanay Y5, AlKindy A6, Baban A7, Bayat A8, Beck-Wödl S9, Berry K10, Bijlsma EK1, Bok LA11, Brouwer AFJ12, van der Burgt I13, Campeau PM14, Canham N15,16, Chrzanowska K17, Chu YWY18, Chung BHY18, Dahan K19, De Rademaeker M20, Destree A19, Dudding-Byth T21, Earl R22, Elcioglu N23, Elias ER24, Fagerberg C25, Gardham A15, Gener B26, Gerkes EH27, Grasshoff U9, van Haeringen A1, Heitink KR28, Herkert JC27, den Hollander NS1, Horn D29, Hunt D30, Kant SG1, Kato M31, Kayserili H32, Kersseboom R33, Kilic E34, Krajewska-Walasek M17, Lammers K35, Laulund LW36, Lederer D19, Lees M37, López-González V38, Maas S39, Mancini GMS33, Marcelis C2, Martinez F40, Maystadt I19, McGuire M41, McKee S42, Mehta S43, Metcalfe K44, Milunsky J45, Mizuno S46, Moeschler JB47, Netzer C48, Ockeloen CW2, Oehl-Jaschkowitz B49, Okamoto N50, Olminkhof SNM51, Orellana C40, Pasquier L52, Pottinger C53, Riehmer V48, Robertson SP54, Roifman M55,56, Rooryck C57, Ropers FG58, Rosello M40, Ruivenkamp CAL1, Sagiroglu MS59, Sallevelt SCEH60, Calvo AS61, Simsek-Kiper PO62, Soares G63, Solaeche L64, Sonmez FM65, Splitt M66, Steenbeek D28, Stegmann APA60, Stumpel CTRM60, Tanabe S67, Uctepe E68, Utine GE62, Veenstra-Knol HE27, Venkateswaran S69, Vilain C70,71, Vincent-Delorme C72, Vulto-van Silfhout AT2, Wheeler P73, Wilson GN74, Wilson LC37, Wollnik B75, Kosho T76, Wieczorek D77, Eichler E78, Pfundt R2, de Vries BBA2, Clayton-Smith J44, Santen GWE79. Journal: Genet Med. 2019 Jan 29. doi: 10.1038/s41436-018-0368-y. [Epub ahead of print]    PubMed      DOI
10.	Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis. Author: Zhang L1,2, Bao Y2,3, Riaz M2, Tiller J2, Liew D2, Zhuang X3, Amor DJ4, Huq A5, Petelin L6, Nelson M7, James PA5, Winship I5, McNeil JJ2, Lacaze P8. Journal: Genet Med. 2019 Feb 18. doi: 10.1038/s41436-019-0457-6. [Epub ahead of print]    PubMed      DOI

同类著名期刊名称 h-index CiteScore NATURE REVIEWS GENETICS 320 16.63 NATURE GENETICS 527 19.88 TRENDS IN GENETICS 208 8.34 Annual Review of Genetics 171 10.11 AMERICAN JOURNAL OF HUMAN GENETICS 280 8.64 Annual Review of Genomics and Human Genetics 104 9.15 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 93 4.71 HUMAN GENETICS 126 4.34 PLoS Genetics 194 5.00 JOURNAL OF MEDICAL GENETICS 159 5.70

中科院JCR同大类学科的热搜期刊 浏览次数 MEDICINE 291684 CANCER RESEARCH 164124 International Journal of Nanomedicine 162675 Molecular Medicine Reports 162609 CANCER LETTERS 157722 JOURNAL OF ETHNOPHARMACOLOGY 139635 BIOMEDICINE & PHARMACOTHERAPY 137880 EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY 134264 Theranostics 133641 International Journal of Environmental Research and Public Health 131845