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:
2012: 11.202
© Thomson Reuters Journal Citation Reports 2013
Five-Year Impact Factor:
2012: 12.512
To calculate the five year Impact Factor, citations are counted in 2013 to the previous five years and divided by the source items published in the previous five years.
© Journal Citation Reports 2013, Published by Thomson Reuters.

Imprint: Cell Press

ISSN: 0002-9297

Most cited

Recent articles


  • Fri Jun 28

    1 Kishan Kumar Chudasama | Jonathon Winnay | Stefan Johansson | Tor Claudi | Rainer König | Ingfrid Haldorsen | Bente Johansson | Ju Rang Woo | Dagfinn Aarskog | Jørn V. Sagen | C. Ronald Kahn | Anders Molven | Pål Rasmus Njølstad
    SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
    The American Journal of Human Genetics, Available online 27 June 2013
    2 David A. Dyment | Amanda C. Smith | Diana Alcantara | Jeremy A. Schwartzentruber | Lina Basel-Vanagaite | Cynthia J. Curry | I. Karen Temple | William Reardon | Sahar Mansour | Mushfequr R. Haq | Rodney Gilbert | Ordan J. Lehmann | Megan R. Vanstone | Chandree L. Beaulieu | Jacek Majewski | Dennis E. Bulman | Mark O𢀙Driscoll | Kym M. Boycott | A. Micheil Innes
    Mutations in PIK3R1 Cause SHORT Syndrome
    The American Journal of Human Genetics, Available online 27 June 2013
    3 Wojciech Wiszniewski | Jill V. Hunter | Neil A. Hanchard | Jason R. Willer | Chad Shaw | Qi Tian | Anna Illner | Xueqing Wang | Sau W. Cheung | Ankita Patel | Ian M. Campbell | Patricia Hixson | Audrey R. Ester | Mahshid S. Azamian | Lorraine Potocki | Gladys Zapata | Patricia P. Hernandez | Melissa B. Ramocki | Regie L.P. Santos-Cortez | Gao Wang | Michele K. York | Monica J. Justice | Zili D. Chu | Patricia I. Bader | Lisa Omo-Griffith | Nirupama S. Madduri | Gunter Scharer | Heather P. Crawford | Pattamawadee Yanatatsaneejit | Anna Eifert | Jeffery Kerr | Carlos A. Bacino | Adiaha I.A. Franklin | Robin P. Goin-Kochel | Gayle Simpson | Ladonna Immken | Muhammad E. Haque | Marija Stosic | Misti D. Williams | Thomas M. Morgan | Sumit Pruthi | Reed Omary | Simeon A. Boyadjiev | Kay K. Win | Aye Thida | Matthew Hurles | Martin Lloyd Hibberd | Chiea Chuen Khor | Nguyen Van Vinh Chau | Thomas E. Gallagher | Apiwat Mutirangura | Pawel Stankiewicz | Arthur L. Beaudet | Mirjana Maletic-Savatic | Jill A. Rosenfeld | Lisa G. Shaffer | Erica E. Davis | John W. Belmont | Sarah Dunstan | Cameron P. Simmons | Penelope E. Bonnen | Suzanne M. Leal | Nicholas Katsanis | James R. Lupski | Seema R. Lalani
    TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
    The American Journal of Human Genetics, Available online 27 June 2013
    4 Christel Thauvin-Robinet | Martine Auclair | Laurence Duplomb | Martine Caron-Debarle | Magali Avila | Judith St-Onge | Martine Le Merrer | Bernard Le Luyer | Delphine Héron | Michèle Mathieu-Dramard | Pierre Bitoun | Jean-Michel Petit | Sylvie Odent | Jeanne Amiel | Damien Picot | Virginie Carmignac | Julien Thevenon | Patrick Callier | Martine Laville | Yves Reznik | Cédric Fagour | Marie-Laure Nunes | Jacqueline Capeau | Olivier Lascols | Frédéric Huet | Laurence Faivre | Corinne Vigouroux | Jean-Baptiste Rivière
    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
    The American Journal of Human Genetics, Available online 27 June 2013
    5 Pei-Hsun Cheng | Chia-Ling Li | Yu-Fan Chang | Shaw-Jeng Tsai | Yen-Yu Lai | Anthony W.S. Chan | Chuan-Mu Chen | Shang-Hsun Yang
    miR-196a Ameliorates Phenotypes of Huntington Disease in Cell, Transgenic Mouse, and Induced Pluripotent Stem Cell Models
    The American Journal of Human Genetics, Available online 27 June 2013
    6 Yu Guo | Xiaomu Wei | Jishnu Das | Andrew Grimson | Steven M. Lipkin | Andrew G. Clark | Haiyuan Yu
    Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the 𢀜Guilt-by-Association𢀝 Principle
    The American Journal of Human Genetics, Available online 20 June 2013
    7 Yoko Aoki | Tetsuya Niihori | Toshihiro Banjo | Nobuhiko Okamoto | Seiji Mizuno | Kenji Kurosawa | Tsutomu Ogata | Fumio Takada | Michihiro Yano | Toru Ando | Tadataka Hoshika | Christopher Barnett | Hirofumi Ohashi | Hiroshi Kawame | Tomonobu Hasegawa | Takahiro Okutani | Tatsuo Nagashima | Satoshi Hasegawa | Ryo Funayama | Takeshi Nagashima | Keiko Nakayama | Shin-ichi Inoue | Yusuke Watanabe | Toshihiko Ogura | Yoichi Matsubara
    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
    The American Journal of Human Genetics, Available online 20 June 2013
    8 Jia Nee Foo | Karin E. Smedby | Nicholas K. Akers | Mattias Berglund | Ishak D. Irwan | Xiaoming Jia | Yi Li | Lucia Conde | Hatef Darabi | Paige M. Bracci | Mads Melbye | Hans-Olov Adami | Bengt Glimelius | Chiea Chuen Khor | Henrik Hjalgrim | Leonid Padyukov | Keith Humphreys | Gunilla Enblad | Christine F. Skibola | Paul I.W. de Bakker | Jianjun Liu
    Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk
    The American Journal of Human Genetics, Available online 20 June 2013
    9 Regie Lyn P. Santos-Cortez | Kwanghyuk Lee | Zahid Azeem | Patrick J. Antonellis | Lana M. Pollock | Saadullah Khan | Irfanullah | Paula B. Andrade-Elizondo | Ilene Chiu | Mark D. Adams | Sulman Basit | Joshua D. Smith | Deborah A. Nickerson | Brian M. McDermott Jr. | Wasim Ahmad | Suzanne M. Leal
    Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
    The American Journal of Human Genetics, Available online 13 June 2013
    10 Seunggeun Lee | Tanya M. Teslovich | Michael Boehnke | Xihong Lin
    General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies
    The American Journal of Human Genetics, Available online 13 June 2013
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