缩写名/全名 |
AM J MED GENET A
AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
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ISSN号 | 1552-4825 | ||||||||||||||||||||
研究方向 | 生物-遗传学 | ||||||||||||||||||||
影响因子 | 2015:2.082, 2016:2.259, 2017:2.264, 2018:2.197, 2019:2.125, | ||||||||||||||||||||
出版国家 | UNITED STATES | ||||||||||||||||||||
出版周期 | Semimonthly | ||||||||||||||||||||
年文章数 | 294 | ||||||||||||||||||||
出版年份 | 2003 | ||||||||||||||||||||
是否OA | No | ||||||||||||||||||||
审稿周期(仅供参考) | 较快,2-4周 |
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录用比例 | 容易 | ||||||||||||||||||||
投稿链接 | https://mc.manuscriptcentral.com/ajmg-a | ||||||||||||||||||||
投稿官网 | http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4833 | ||||||||||||||||||||
h-index | 79 | ||||||||||||||||||||
CiteScore |
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PubMed Central (PMC)链接 | http://www.ncbi.nlm.nih.gov/nlmcatalog?term=1552-4825%5BISSN%5D | ||||||||||||||||||||
中科院SCI期刊分区 ( 2018年新版本) |
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中科院SCI期刊分区 ( 2020年新版本) |
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中国学者近期发表的论文 | |
1. | Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development. Author: Ye M1, Xu L1, Fu M1, Chen D1, Mattina T2, Zufardi O3, Rossi E3, Bush KT4, Nigam SK4,5, Grossfeld P6. Journal: Am J Med Genet A. 2019 Jan;179(1):71-77. doi: 10.1002/ajmg.a.40481. Epub 2018 Nov 13. PubMed DOI |
2. | A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. Author: Pang X1, Zheng X2, Kong X1, Chai Y3,4,5, Wang Y1, Qian H6, Yang B1, Wu C1, Chu J1, Yang T3,4,5. Journal: Am J Med Genet A. 2019 Feb;179(2):243-248. doi: 10.1002/ajmg.a.60693. Epub 2018 Dec 14. PubMed DOI |
3. | Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia. Author: Yu M1, Liu Y1, Liu H1, Wong SW2, He H1, Zhang X1, Wang Y1, Han D1, Feng H1. Journal: Am J Med Genet A. 2019 Jan;179(1):57-64. doi: 10.1002/ajmg.a.60682. Epub 2018 Dec 20. PubMed DOI |
4. | 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. Author: Beaman GM1,2, Woolf AS3,4, Cervellione RM4, Keene D4, Mushtaq I5, Urquhart JE2, Stuart HM1,2, Newman WG1,2,6. Journal: Am J Med Genet A. 2019 Mar;179(3):404-409. doi: 10.1002/ajmg.a.61032. Epub 2019 Jan 9. PubMed DOI |
5. | Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. Author: Fu Q1, Wang H1, Qi Z2, Zhang Y3. Journal: Am J Med Genet A. 2019 Feb;179(2):285-289. doi: 10.1002/ajmg.a.40669. Epub 2019 Jan 22. PubMed DOI |
6. | A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. Author: Zhang L1, Xu X2, Sun K2, Sun J2, Wang Y2, Liu Y2, Yang N1, Tao C1, Cai B1, Shi G2, Zhang F1, Shi J2. Journal: Am J Med Genet A. 2019 Jun;179(6):936-939. doi: 10.1002/ajmg.a.61088. Epub 2019 Mar 18. PubMed DOI |
7. | Clinical and molecular spectrum of CHOPS syndrome. Author: Raible SE1,2, Mehta D1, Bettale C1, Fiordaliso S1, Kaur M1,2, Medne L1,2, Rio M3, Haan E4, White SM5, Cusmano-Ozog K6, Nishi E7, Guo Y8, Wu H9, Shi X9, Zhao Q9, Zhang X9, Lei Q9, Lu A9, He X9, Okamoto N7, Miyake N10, Piccione J11,12, Allen J11,12, Matsumoto N7, Pipan M12,13, Krantz ID1,2,12, Izumi K1,2,12. Journal: Am J Med Genet A. 2019 May 6. doi: 10.1002/ajmg.a.61174. [Epub ahead of print] PubMed DOI |
8. | A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. Author: Wang B, Zheng Z, Wang Z, Zhang X, Yang H, Cai H, Fu Q. Journal: Am J Med Genet A. 2016 Jan;170A(1):135-41. doi: 10.1002/ajmg.a.37391. Epub 2015 Sep 16. PubMed |
9. | Interactions between RAD51 rs1801321 and maternal cigarette smoking as risk factor for nonsyndromic cleft lip with or without cleft palate. Author: Machado RA, Moreira HS, de Aquino SN, Martelli-Junior H, de Almeida Reis SR, Persuhn DC, Wu T, Yuan Y, Coletta RD. Journal: Am J Med Genet A. 2016 Feb;170A(2):536-9. doi: 10.1002/ajmg.a.37281. Epub 2015 Oct 27. No abstract available. PubMed |
10. | Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability. Author: Fan Y, Qiu W, Wang L, Gu X, Yu Y. Journal: Am J Med Genet A. 2016 Feb;170A(2):515-22. doi: 10.1002/ajmg.a.37454. Epub 2015 Nov 6. PubMed |
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