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 Jun 16

    1 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
    2 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
    3 Anne-Karin Arndt | Sebastian Schafer | Jorg-Detlef Drenckhahn | M. Khaled Sabeh | Eva R. Plovie | Almuth Caliebe | Eva Klopocki | Gabriel Musso | Andreas A. Werdich | Hermann Kalwa | Matthias Heinig | Robert F. Padera | Katharina Wassilew | Julia Bluhm | Christine Harnack | Janine Martitz | Paul J. Barton | Matthias Greutmann | Felix Berger | Norbert Hubner | Reiner Siebert | Hans-Heiner Kramer | Stuart A. Cook | Calum A. MacRae | Sabine Klaassen
    Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
    The American Journal of Human Genetics, Available online 13 June 2013
    4 Keren J. Carss | Elizabeth Stevens | A. Reghan Foley | Sebahattin Cirak | Moniek Riemersma | Silvia Torelli | Alexander Hoischen | Tobias Willer | Monique van Scherpenzeel | Steven A. Moore | Sonia Messina | Enrico Bertini | Carsten G. Bönnemann | Jose E. Abdenur | Carla M. Grosmann | Akanchha Kesari | Jaya Punetha | Ros Quinlivan | Leigh B. Waddell | Helen K. Young | Elizabeth Wraige | Shu Yau | Lina Brodd | Lucy Feng | Caroline Sewry | Daniel G. MacArthur | Kathryn N. North | Eric Hoffman | Derek L. Stemple | Matthew E. Hurles | Hans van Bokhoven | Kevin P. Campbell | Dirk J. Lefeber | Yung-Yao Lin | Francesco Muntoni
    Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
    The American Journal of Human Genetics, Available online 13 June 2013
    5 Wen-Ya Ko | Prianka Rajan | Felicia Gomez | Laura Scheinfeldt | Alain Froment | Thomas B. Nyambo | Sabah A. Omar | Charles Wambebe | Alessia Ranciaro | Jibril B. Hirbo | Sarah A. Tishkoff
    Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations
    The American Journal of Human Genetics, Available online 13 June 2013
    6 Natalie R. Powers | John D. Eicher | Falk Butter | Yong Kong | Laura L. Miller | Susan M. Ring | Matthias Mann | Jeffrey R. Gruen
    Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
    The American Journal of Human Genetics, Available online 6 June 2013
    7 Amir Boukhris | Rebecca Schule | José L. Loureiro | Charles Marques Lourenço | Emeline Mundwiller | Michael A. Gonzalez | Perrine Charles | Julie Gauthier | Imen Rekik | Rafael F. Acosta Lebrigio | Marion Gaussen | Fiorella Speziani | Andreas Ferbert | Imed Feki | Andrés Caballero-Oteyza | Alexandre Dionne-Laporte | Mohamed Amri | Anne Noreau | Sylvie Forlani | Vitor T. Cruz | Fanny Mochel | Paula Coutinho | Patrick Dion | Chokri Mhiri | Ludger Schols | Jean Pouget | Frédéric Darios | Guy A. Rouleau | Wilson Marques Jr. | Alexis Brice | Alexandra Durr | Stephan Zuchner | Giovanni Stevanin
    Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
    The American Journal of Human Genetics, Available online 6 June 2013
    8 Anne Gregor | Martin Oti | Evelyn N. Kouwenhoven | Juliane Hoyer | Heinrich Sticht | Arif B. Ekici | Susanne Kjaergaard | Anita Rauch | Hendrik G. Stunnenberg | Steffen Uebe | Georgia Vasileiou | André Reis | Huiqing Zhou | Christiane Zweier
    De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
    The American Journal of Human Genetics, Available online 6 June 2013
    9 Zachary A. Szpiech | Jishu Xu | Trevor J. Pemberton | Weiping Peng | Sebastian Zöllner | Noah A. Rosenberg | Jun Z. Li
    Long Runs of Homozygosity Are Enriched for Deleterious Variation
    The American Journal of Human Genetics, Available online 6 June 2013
    10 Gianina Ravenscroft | Satoko Miyatake | Vilma-Lotta Lehtokari | Emily J. Todd | Pauliina Vornanen | Kyle S. Yau | Yukiko K. Hayashi | Noriko Miyake | Yoshinori Tsurusaki | Hiroshi Doi | Hirotomo Saitsu | Hitoshi Osaka | Sumimasa Yamashita | Takashi Ohya | Yuko Sakamoto | Eriko Koshimizu | Shintaro Imamura | Michiaki Yamashita | Kazuhiro Ogata | Masaaki Shiina | Robert J. Bryson-Richardson | Raquel Vaz | Ozge Ceyhan | Catherine A. Brownstein | Lindsay C. Swanson | Sophie Monnot | Norma B. Romero | Helge Amthor | Nina Kresoje | Padma Sivadorai | Cathy Kiraly-Borri | Goknur Haliloglu | Beril Talim | Diclehan Orhan | Gulsev Kale | Adrian K. Charles | Victoria A. Fabian | Mark R. Davis | Martin Lammens | Caroline A. Sewry | Adnan Manzur | Francesco Muntoni | Nigel F. Clarke | Kathryn N. North | Enrico Bertini | Yoram Nevo | Ekkhard Willichowski | Inger E. Silberg | Haluk Topaloglu | Alan H. Beggs | Richard J.N. Allcock | Ichizo Nishino | Carina Wallgren-Pettersson | Naomichi Matsumoto | Nigel G. Laing
    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
    The American Journal of Human Genetics, Available online 6 June 2013
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