The American Journal of Human Genetics

Cell Press has been chosen by The American Society of Human Genetics to publish its premier monthly journal from January 2008. The American Journal of Human Genetics (AJHG) is an exciting new venture for Cell Press as its first society-owned journal. The American Society of Human Genetics (ASHG) and Cell Press anticipate tremendous synergies between AJHG content and that of the 12 Cell Press titles, including Cell, Molecular Cell, Current Biology, and Immunity.

Since its inception in 1948, The American Journal of Human Genetics has provided a record of research and review relating to heredity in humans, and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology.

Impact factor:
2011: 10.603
© Thomson Reuters Journal Citation Reports 2012
Five-Year Impact Factor:
2011: 11.716
To calculate the five year Impact Factor, citations are counted in 2012 to the previous five years and divided by the source items published in the previous five years.
© Journal Citation Reports 2012, Published by Thomson Reuters.

Imprint: Cell Press

ISSN: 0002-9297

Most cited

Recent articles


  • Sun Dec 30

    1 Céline Huber | Eissa Ali Faqeih | Deborah Bartholdi | Christine Bole-Feysot | Zvi Borochowitz | Denise P. Cavalcanti | Amandine Frigo | Patrick Nitschke | Joelle Roume | Heloísa G. Santos | Stavit A. Shalev | Andrea Superti-Furga | Anne-Lise Delezoide | Martine Le Merrer | Arnold Munnich | Valérie Cormier-Daire
    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
    The American Journal of Human Genetics, Available online 27 December 2012
    2 Jennifer E. Below | Dawn L. Earl | Kathryn M. Shively | Margaret J. McMillin | Joshua D. Smith | Emily H. Turner | Mark J. Stephan | Lihadh I. Al-Gazali | Jozef L. Hertecant | David Chitayat | Sheila Unger | Daniel H. Cohn | Deborah Krakow | James M. Swanson | Elaine M. Faustman | Jay Shendure | Deborah A. Nickerson | Michael J. Bamshad
    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
    The American Journal of Human Genetics, Available online 27 December 2012
    3 Wanling Yang | Huayang Tang | Yan Zhang | Xianfa Tang | Jing Zhang | Liangdan Sun | Jing Yang | Yong Cui | Lu Zhang | Nattiya Hirankarn | Hui Cheng | Hai-Feng Pan | Jinping Gao | Tsz Leung Lee | Yujun Sheng | Chak Sing Lau | Yang Li | Tak Mao Chan | Xianyong Yin | Dingge Ying | Qianjin Lu | Alexander Moon Ho Leung | Xianbo Zuo | Xiang Chen | Kwok Lung Tong | Fusheng Zhou | Qingchun Diao | Niko Kei Chiu Tse | Hongfu Xie | Chi Chiu Mok | Fei Hao | Sik Nin Wong | Bingjun Shi | Ka Wing Lee | Yan Hui | Marco Hok Kung Ho | Bo Liang | Pamela Pui Wah Lee | Hongzhou Cui | Qing Guo | Brian Hon-Yin Chung | Xiongming Pu | Qiji Liu | Xiaoguang Zhang | Change Zhang | Chun Yin Chong | Hong Fang | Raymond Woon Sing Wong | Yonghu Sun | Mo Yin Mok | Xiang-Pei Li | Yingyos Avihingsanon | Zhifang Zhai | Pornpimol Rianthavorn | Thavatchai Deekajorndej | Kanya Suphapeetiporn | Fei Gao | Vorasuk Shotelersuk | Xiaojing Kang | Shirley King Yee Ying | Lijuan Zhang | Wilfred Hing Sang Wong | Dingxian Zhu | Samuel Ka Shun Fung | Fanqin Zeng | Wai Ming Lai | Chun-Ming Wong | Irene Oi Lin Ng | Maria-Mercè Garcia-Barceló | Stacey S. Cherny | Nan Shen | Paul Kwong-Hang Tam | Pak Chung Sham | Dong-Qing Ye | Sen Yang | Xuejun Zhang | Yu Lung Lau
    Meta-Analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians
    The American Journal of Human Genetics, Available online 27 December 2012
    4 Sarah E. Flanagan | Weijia Xie | Richard Caswell | Annet Damhuis | Christine Vianey-Saban | Teoman Akcay | Feyza Darendeliler | Firdevs Bas | Ayla Guven | Zeynep Siklar | Gonul Ocal | Merih Berberoglu | Nuala Murphy | Maureen O𢀙Sullivan | Andrew Green | Peter E. Clayton | Indraneel Banerjee | Peter T. Clayton | Khalid Hussain | Michael N. Weedon | Sian Ellard
    Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
    The American Journal of Human Genetics, Available online 27 December 2012
    5 Dorothée Diogo | Fina Kurreeman | Eli A. Stahl | Katherine P. Liao | Namrata Gupta | Jeffrey D. Greenberg | Manuel A. Rivas | Brendan Hickey | Jason Flannick | Brian Thomson | Candace Guiducci | Stephan Ripke | Ivan Adzhubey | Anne Barton | Joel M. Kremer | Lars Alfredsson | Shamil Sunyaev | Javier Martin | Alexandra Zhernakova | John Bowes | Steve Eyre | Katherine A. Siminovitch | Peter K. Gregersen | Jane Worthington | Lars Klareskog | Leonid Padyukov | Soumya Raychaudhuri | Robert M. Plenge
    Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis
    The American Journal of Human Genetics, Available online 20 December 2012
    6 Michael R. Knowles | Margaret W. Leigh | Lawrence E. Ostrowski | Lu Huang | Johnny L. Carson | Milan J. Hazucha | Weining Yin | Jonathan S. Berg | Stephanie D. Davis | Sharon D. Dell | Thomas W. Ferkol | Margaret Rosenfeld | Scott D. Sagel | Carlos E. Milla | Kenneth N. Olivier | Emily H. Turner | Alexandra P. Lewis | Michael J. Bamshad | Deborah A. Nickerson | Jay Shendure | Maimoona A. Zariwala
    Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
    The American Journal of Human Genetics, Available online 20 December 2012
    7 Margaret J. McMillin | Jennifer E. Below | Kathryn M. Shively | Anita E. Beck | Heidi I. Gildersleeve | Jason Pinner | Gloria R. Gogola | Jacqueline T. Hecht | Dorothy K. Grange | David J. Harris | Dawn L. Earl | Sujatha Jagadeesh | Sarju G. Mehta | Stephen P. Robertson | James M. Swanson | Elaine M. Faustman | Heather C. Mefford | Jay Shendure | Deborah A. Nickerson | Michael J. Bamshad
    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
    The American Journal of Human Genetics, Available online 20 December 2012
    8 Alexandros Onoufriadis | Tamara Paff | Dinu Antony | Amelia Shoemark | Dimitra Micha | Bertus Kuyt | Miriam Schmidts | Stavroula Petridi | Jeanette E. Dankert-Roelse | Eric G. Haarman | Johannes M.A. Daniels | Richard D. Emes | Robert Wilson | Claire Hogg | Peter J. Scambler | Eddie M.K. Chung | Gerard Pals | Hannah M. Mitchison
    Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
    The American Journal of Human Genetics, Available online 20 December 2012
    9 Michael Mueller | Paula Barros | Abigail S. Witherden | Amy L. Roberts | Zhou Zhang | Helmut Schaschl | Chack-Yung Yu | Matthew E. Hurles | Catherine Schaffner | R. Andres Floto | Laurence Game | Karyn Meltz Steinberg | Richard K. Wilson | Tina A. Graves | Evan E. Eichler | H. Terence Cook | Timothy J. Vyse | Timothy J. Aitman
    Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus
    The American Journal of Human Genetics, Available online 20 December 2012
    10 Heather Elding | Winston Lau | Dallas M. Swallow | Nikolas Maniatis
    Refinement in Localization and Identification of Gene Regions Associated with Crohn Disease
    The American Journal of Human Genetics, Available online 13 December 2012
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