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


  • Thu May 23

    1 Ming Li | Ruhong Cheng | Jianying Liang | Heng Yan | Hui Zhang | Lijia Yang | Chengrang Li | Qingqing Jiao | Zhiyong Lu | Jianhui He | Jin Ji | Zhu Shen | Chunqi Li | Fei Hao | Hong Yu | Zhirong Yao
    Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease
    The American Journal of Human Genetics, Available online 16 May 2013
    2 Sheila Unger | Maria W. Górna | Antony Le Béchec | Sonia Do Vale-Pereira | Maria Francesca Bedeschi | Stefan Geiberger | Giedre Grigelioniene | Eva Horemuzova | Faustina Lalatta | Ekkehart Lausch | Cinzia Magnani | Sheela Nampoothiri | Gen Nishimura | Duccio Petrella | Francisca Rojas-Ringeling | Akari Utsunomiya | Bernhard Zabel | Sylvain Pradervand | Keith Harshman | Belinda Campos-Xavier | Luisa Bonafé | Giulio Superti-Furga | Brian Stevenson | Andrea Superti-Furga
    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
    The American Journal of Human Genetics, Available online 16 May 2013
    3 Tatiana Popova | Lucie Hebert | Virginie Jacquemin | Sophie Gad | Virginie Caux-Moncoutier | Catherine Dubois-d𢀙Enghien | Bénédicte Richaudeau | Xavier Renaudin | Jason Sellers | André Nicolas | Xavier Sastre-Garau | Laurence Desjardins | Gabor Gyapay | Virginie Raynal | Olga M. Sinilnikova | Nadine Andrieu | Elodie Manié | Antoine de Pauw | Paul Gesta | Valérie Bonadona | Christine M. Maugard | Clotilde Penet | Marie-Françoise Avril | Emmanuel Barillot | Odile Cabaret | Olivier Delattre | Stéphane Richard | Olivier Caron | Meriem Benfodda | Hui-Han Hu | Nadem Soufir | Brigitte Bressac-de Paillerets | Dominique Stoppa-Lyonnet | Marc-Henri Stern
    Germline BAP1 Mutations Predispose to Renal Cell Carcinomas
    The American Journal of Human Genetics, Available online 16 May 2013
    4 Iuliana Ionita-Laza | Seunggeun Lee | Vlad Makarov | Joseph D. Buxbaum | Xihong Lin
    Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants
    The American Journal of Human Genetics, Available online 16 May 2013
    5 Fransiska Malfait | Ariana Kariminejad | Tim Van Damme | Caroline Gauche | Delfien Syx | Faten Merhi-Soussi | Sandrine Gulberti | Sofie Symoens | Suzanne Vanhauwaert | Andy Willaert | Bita Bozorgmehr | Mohamad Hasan Kariminejad | Nazanin Ebrahimiadib | Ingrid Hausser | Ann Huysseune | Sylvie Fournel-Gigleux | Anne De Paepe
    Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder
    The American Journal of Human Genetics, Available online 9 May 2013
    6 Kristien Peeters | Ivan Litvinenko | Bob Asselbergh | Leonardo Almeida-Souza | Teodora Chamova | Thomas Geuens | Elke Ydens | Magdalena Zimoń | Joy Irobi | Els De Vriendt | Vicky De Winter | Tinne Ooms | Vincent Timmerman | Ivailo Tournev | Albena Jordanova
    Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
    The American Journal of Human Genetics, Available online 9 May 2013
    7 Masahiro Nakajima | Shuji Mizumoto | Noriko Miyake | Ryo Kogawa | Aritoshi Iida | Hironori Ito | Hiroshi Kitoh | Aya Hirayama | Hiroshi Mitsubuchi | Osamu Miyazaki | Rika Kosaki | Reiko Horikawa | Angeline Lai | Roberto Mendoza-Londono | Lucie Dupuis | David Chitayat | Andrew Howard | Gabriela F. Leal | Denise Cavalcanti | Yoshinori Tsurusaki | Hirotomo Saitsu | Shigehiko Watanabe | Ekkehart Lausch | Sheila Unger | Luisa Bonafé | Hirofumi Ohashi | Andrea Superti-Furga | Naomichi Matsumoto | Kazuyuki Sugahara | Gen Nishimura | Shiro Ikegawa
    Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
    The American Journal of Human Genetics, Available online 9 May 2013
    8 Emily C. Oates | Alexander M. Rossor | Majid Hafezparast | Michael Gonzalez | Fiorella Speziani | Daniel G. MacArthur | Monkol Lek | Ellen Cottenie | Mariacristina Scoto | A. Reghan Foley | Matthew Hurles | Henry Houlden | Linda Greensmith | Michaela Auer-Grumbach | Thomas R. Pieber | Tim M. Strom | Rebecca Schule | David N. Herrmann | Janet E. Sowden | Gyula Acsadi | Manoj P. Menezes | Nigel F. Clarke | Stephan Züchner | Francesco Muntoni | Kathryn N. North | Mary M. Reilly
    Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
    The American Journal of Human Genetics, Available online 9 May 2013
    9 Kornelia Neveling | Lilian A. Martinez-Carrera | Irmgard Hölker | Angelien Heister | Aad Verrips | Seyyed Mohsen Hosseini-Barkooie | Christian Gilissen | Sascha Vermeer | Maartje Pennings | Rowdy Meijer | Margot te Riele | Catharina J.M. Frijns | Oksana Suchowersky | Linda MacLaren | Sabine Rudnik-Schöneborn | Richard J. Sinke | Klaus Zerres | R. Brian Lowry | Henny H. Lemmink | Lutz Garbes | Joris A. Veltman | Helenius J. Schelhaas | Hans Scheffer | Brunhilde Wirth
    Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
    The American Journal of Human Genetics, Available online 9 May 2013
    10 Ida J. Hatoum | Danielle M. Greenawalt | Chris Cotsapas | Mark J. Daly | Marc L. Reitman | Lee M. Kaplan
    Weight Loss after Gastric Bypass Is Associated with a Variant at 15q26.1
    The American Journal of Human Genetics, Volume 92, Issue 5, 2 May 2013, Pages 827-834
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