| 1 | Framework for responsible sharing of genomic and health-related data | The HUGO Journal | 2014 | 233 |
| 2 | Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes | The HUGO Journal | 2009 | 83 |
| 3 | Review of massively parallel DNA sequencing technologies | The HUGO Journal | 2011 | 71 |
| 4 | An economic perspective on personalized medicine | The HUGO Journal | 2013 | 71 |
| 5 | Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing | The HUGO Journal | 2009 | 52 |
| 6 | Addressing ethical issues in H3Africa research – the views of research ethics committee members | The HUGO Journal | 2015 | 49 |
| 7 | A novel in silico approach to identify potential therapeutic targets in human bacterial pathogens | The HUGO Journal | 2011 | 46 |
| 8 | Genome-wide identification and annotation of HIF-1α binding sites in two cell lines using massively parallel sequencing | The HUGO Journal | 2010 | 45 |
| 9 | The use of race, ethnicity and ancestry in human genetic research | The HUGO Journal | 2011 | 45 |
| 10 | Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours | The HUGO Journal | 2010 | 40 |
| 11 | The extent of functionality in the human genome | The HUGO Journal | 2013 | 35 |
| 12 | Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer | The HUGO Journal | 2009 | 30 |
| 13 | INDICO: the development of a resource for epigenomic study of Indians undergoing socioeconomic transition | The HUGO Journal | 2011 | 29 |
| 14 | International code of conduct for genomic and health-related data sharing | The HUGO Journal | 2014 | 21 |
| 15 | The impact of cis-acting polymorphisms on the human phenotype | The HUGO Journal | 2011 | 19 |
| 16 | Targeted genome-wide investigation identifies novel SNPs associated with diabetic nephropathy | The HUGO Journal | 2009 | 16 |
| 17 | A genome wide pattern of population structure and admixture in peninsular Malaysia Malays | The HUGO Journal | 2014 | 16 |
| 18 | Genetic determinants of immune-response to a polysaccharide vaccine for typhoid | The HUGO Journal | 2009 | 13 |
| 19 | Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype | The HUGO Journal | 2010 | 12 |
| 20 | Translational genomics in personalized medicine – scientific challenges en route to clinical practice | The HUGO Journal | 2012 | 11 |
| 21 | Current and emerging therapeutic strategies for Fanconi anemia | The HUGO Journal | 2012 | 11 |
| 22 | Germs, genomics and global public health | The HUGO Journal | 2009 | 9 |
| 23 | HGM 2010 Programme / Abstract | The HUGO Journal | 2010 | 8 |
| 24 | Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypes | The HUGO Journal | 2011 | 7 |
| 25 | Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development | The HUGO Journal | 2009 | 5 |
| 26 | Intra-consortium data sharing in multi-national, multi-institutional genomic studies: gaps and guidance | The HUGO Journal | 2009 | 4 |
| 27 | The Human Genome Organisation (HUGO) | The HUGO Journal | 2009 | 4 |
| 28 | Admixture mapping: from paradigms of race and ethnicity to population history | The HUGO Journal | 2010 | 4 |
| 29 | HGM 2011 Programme Abstract Book | The HUGO Journal | 2011 | 4 |
| 30 | A whole genome analyses of genetic variants in two Kelantan Malay individuals | The HUGO Journal | 2014 | 3 |
| 31 | The GAMY Project: young people’s attitudes to genetics in the South Wales valleys | The HUGO Journal | 2010 | 2 |
| 32 | Molecular genetics research in sub-Saharan Africa: how can the international community help? | The HUGO Journal | 2014 | 1 |
| 33 | Genetic variation in response to a typhoid vaccine | The HUGO Journal | 2009 | 0 |
| 34 | The emergence of ‘The HUGO Journal’ | The HUGO Journal | 2009 | 0 |
| 35 | Leena Peltonen-Palotie: 1952–2010 | The HUGO Journal | 2009 | 0 |
| 36 | 27th HUGO-IABCR Congress 2010: Oral Presentation Abstracts, 5–7 October 2010, Singapore | The HUGO Journal | 2010 | 0 |
| 37 | 27th HUGO-IABCR congress 2010: poster abstracts 5–7 October 2010, Singapore | The HUGO Journal | 2010 | 0 |
| 38 | Molecular genetics research in sub-Saharan Africa: how can the international community help? | The HUGO Journal | 2014 | 0 |
