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


  • Mon Apr 29

    1 Kazuya Kashiyama | Yuka Nakazawa | Daniela T. Pilz | Chaowan Guo | Mayuko Shimada | Kensaku Sasaki | Heather Fawcett | Jonathan F. Wing | Susan O. Lewin | Lucinda Carr | Tao-Sheng Li | Koh-ichiro Yoshiura | Atsushi Utani | Akiyoshi Hirano | Shunichi Yamashita | Danielle Greenblatt | Tiziana Nardo | Miria Stefanini | David McGibbon | Robert Sarkany | Hiva Fassihi | Yoshito Takahashi | Yuji Nagayama | Norisato Mitsutake | Alan R. Lehmann | Tomoo Ogi
    Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
    The American Journal of Human Genetics, Available online 25 April 2013
    2 Philippe M. Campeau | Guy M. Lenk | James T. Lu | Yangjin Bae | Lindsay Burrage | Peter Turnpenny | Jorge Román Corona-Rivera | Lucia Morandi | Marina Mora | Heiko Reutter | Anneke T. Vulto-van Silfhout | Laurence Faivre | Eric Haan | Richard A. Gibbs | Miriam H. Meisler | Brendan H. Lee
    Yunis-Varón Syndrome Is Caused by Mutations in FIG4 Encoding a Phosphoinositide Phosphatase
    The American Journal of Human Genetics, Available online 25 April 2013
    3 Massimo Bogliolo | Beatrice Schuster | Chantal Stoepker | Burak Derkunt | Yan Su | Anja Raams | Juan P. Trujillo | Jordi Minguillón | María J. Ramírez | Roser Pujol | José A. Casado | Rocío Baños | Paula Rio | Kerstin Knies | Sheila Zúñiga | Javier Benítez | Juan A. Bueren | Nicolaas G.J. Jaspers | Orlando D. Schärer | Johan P. de Winter | Detlev Schindler | Jordi Surrallés
    Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
    The American Journal of Human Genetics, Available online 25 April 2013
    4 Hiromi Hirata | Indrajit Nanda | Anne van Riesen | Gai McMichael | Hao Hu | Melanie Hambrock | Marie-Amélie Papon | Ute Fischer | Sylviane Marouillat | Can Ding | Servane Alirol | Melanie Bienek | Sabine Preisler-Adams | Astrid Grimme | Dominik Seelow | Richard Webster | Eric Haan | Alastair MacLennan | Werner Stenzel | Tzu Ying Yap | Alison Gardner | Lam Son Nguyen | Marie Shaw | Nicolas Lebrun | Stefan A. Haas | Wolfram Kress | Thomas Haaf | Elke Schellenberger | Jamel Chelly | Géraldine Viot | Lisa G. Shaffer | Jill A. Rosenfeld | Nancy Kramer | Rena Falk | Dima El-Khechen | Luis F. Escobar | Raoul Hennekam | Peter Wieacker | Christoph Hübner | Hans-Hilger Ropers | Jozef Gecz | Markus Schuelke | Frédéric Laumonnier | Vera M. Kalscheuer
    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
    The American Journal of Human Genetics, Available online 25 April 2013
    5 Viktor Stránecký | Alexander Hoischen | Hana Hartmannová | Maha S. Zaki | Amit Chaudhary | Enrique Zudaire | Lenka Nosková | Veronika Barešová | Anna Přistoupilová | Kateřina Hodaňová | Jana Sovová | Helena Hůlková | Lenka Piherová | Jayne Y. Hehir-Kwa | Deepthi de Silva | Manouri P. Senanayake | Sameh Farrag | Jiří Zeman | Pavel Martásek | Alice Baxová | Hanan H. Afifi | Brad St. Croix | Han G. Brunner | Samia Temtamy | Stanislav Kmoch
    Mutations in ANTXR1 Cause GAPO Syndrome
    The American Journal of Human Genetics, Available online 18 April 2013
    6 Qasim Ayub | Bryndis Yngvadottir | Yuan Chen | Yali Xue | Min Hu | Sonja C. Vernes | Simon E. Fisher | Chris Tyler-Smith
    FOXP2 Targets Show Evidence of Positive Selection in European Populations
    The American Journal of Human Genetics, Available online 18 April 2013
    7 Cas Simons | Nicole I. Wolf | Nathan McNeil | Ljubica Caldovic | Joseph M. Devaney | Asako Takanohashi | Joanna Crawford | Kelin Ru | Sean M. Grimmond | David Miller | Davide Tonduti | Johanna L. Schmidt | Robert S. Chudnow | Rudy van Coster | Lieven Lagae | Jill Kisler | Jürgen Sperner | Marjo S. van der Knaap | Raphael Schiffmann | Ryan J. Taft | Adeline Vanderver
    A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
    The American Journal of Human Genetics, Available online 11 April 2013
    8 Thassadite Dirami | Baptiste Rode | Mathilde Jollivet | Nathalie Da Silva | Denise Escalier | Natacha Gaitch | Caroline Norez | Pierre Tuffery | Jean-Philippe Wolf | Frédéric Becq | Pierre F. Ray | Emmanuel Dulioust | Gérard Gacon | Thierry Bienvenu | Aminata Touré
    Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia
    The American Journal of Human Genetics, Available online 11 April 2013
    9 Benjamin Nota | Eduard A. Struys | Ana Pop | Erwin E. Jansen | Matilde R. Fernandez Ojeda | Warsha A. Kanhai | Martijn Kranendijk | Silvy J.M. van Dooren | Marianna R. Bevova | Erik A. Sistermans | Aggie W.M. Nieuwint | Magalie Barth | Tawfeg Ben-Omran | Georg F. Hoffmann | Pascale de Lonlay | Marie T. McDonald | Alf Meberg | Ania C. Muntau | Jean-Marc Nuoffer | Rossella Parini | Marie-Hélène Read | Axel Renneberg | René Santer | Thomas Strahleck | Emile van Schaftingen | Marjo S. van der Knaap | Cornelis Jakobs | Gajja S. Salomons
    Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
    The American Journal of Human Genetics, Volume 92, Issue 4, 4 April 2013, Pages 627-631
    10 Lars Hansen | Hasan Tawamie | Yoshiko Murakami | Yuan Mang | Shoaib ur Rehman | Rebecca Buchert | Stefanie Schaffer | Safia Muhammad | Mads Bak | Markus M. Nöthen | Eric P. Bennett | Yusuke Maeda | Michael Aigner | André Reis | Taroh Kinoshita | Niels Tommerup | Shahid Mahmood Baig | Rami Abou Jamra
    Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
    The American Journal of Human Genetics, Volume 92, Issue 4, 4 April 2013, Pages 575-583
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