Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.
Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. 

The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.

Editors-in-Chief 
David N. Cooper, Ph.D.
Institute of Medical Genetics
Cardiff University
Heath Park, Cardiff CF14 4XN, UK
Tel.: (+44) 2920-744062
Fax: (+44) 2920-746551
e-mail: cooperDN@cardiff.ac.uk
Cynthia C. Morton, Ph.D.
Brigham and Women's Hospital
Harvard Medical School
77 Avenue Louis Pasteur
Boston, MA 02115, USA
Tel.: 617-525-4535
Fax: 617-525-4533
e-mail: cmorton@bwh.harvard.edu
Reviews Editors
France Gagnon · Toronto, Canada
Chee Seng Ku · Singapore
George P. Patrinos · Patras, Greece
David A. Trégouët · Bordeaux, France
Maggie H. Wang · Hong Kong, SAR, China
Book Reviews Editor
Angus J. Clarke · Cardiff, UK
Founding Editors
Arno G. Motulsky
Friedrich Vogel
Past Editors-in-Chief
Robert L. Nussbaum · San Francisco, CA, USA
Thomas J. Hudson · Huntsville, AL, USA
Editorial Board
Laurent Abel · Paris, France
Fowzan S. Alkuraya · Riyadh, Saudi Arabia
Rameshwar N.K. Bamezai · New Delhi, India
Hagit Baris Feldman · Haifa, Israel
Sharon Browning · Seattle, WA, USA
Stephen J. Chanock · Bethesda, MD, USA
Zheng-Yi Chen· Boston, MA, USA
Richard Choy · Hong Kong, SAR China
Jean-François Deleuze · Évry, France
Jose C. Florez · Boston, MA, USA
Jean-Louis Guéant · Vandoeuvre-lès-Nancy, France
James F. Gusella · Boston, MA, USA
Rachel Karchin · Baltimore, MD, USA
Hildegard Kehrer-Sawatzki · Ulm, Germany
Bartha M. Knoppers · Montréal, QC, Canada
Michael Krawczak · Kiel, Germany
Julian Little · Ottawa, ON, Canada
Edison T. Liu · Bar Harbor, ME, USA
J.R. Lupski · Houston, TX, USA
Partha P. Majumder · Kalyani, India 
Nicholas G. Martin · Brisbane, QLD, Australia
Naomichi Matsumoto · Yokohama, Japan
Maximilian Muenke · Bethesda, MD, USA
Deborah Nickerson · Seattle, WA, USA
Robert L. Nussbaum · San Francisco,CA, USA
Aarno Palotie · Cambridge, MA, USA
Etienne Patin · Paris, France
Constantin Polychronakos · Montréal, QC, Canada
Gudrun Rappold · Heidelberg, Germany
Pieter H. Reitsma · Amsterdam, The Netherlands
Hans-Hilger Ropers · Berlin, Germany
Jeremy Sanford · Santa Cruz, CA, USA
James M. Sikela · Aurora, CO, USA
Pak C. Sham · Hong Kong, SAR China
Jay Shendure · Seattle, WA, USA
Henk Stunnenberg · Nijmegen, The Netherlands
Kumarasamy Thangaraj · Hyderabad, India
Peter W. Thompson · Cardiff, UK 
Chris Tyler-Smith · Cambridge, UK
Jun Wang · Shenzhen, China
Haiyuan Yu · Ithaca, NY, USA
Andreas Ziegler · Lübeck, Germany