| 28594900 | Systematic genomic and translational efficiency studies of uveal melanoma. | PLoS One | 2017 |
| 28594900 | Systematic genomic and translational efficiency studies of uveal melanoma. | PLoS One | 2017 |
| 24390348 | Landscape of genomic alterations in cervical carcinomas. | Nature | 2014 |
| 24390348 | Landscape of genomic alterations in cervical carcinomas. | Nature | 2014 |
| 24909177 | Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. | Oncogene | 2014 |
| 24909177 | Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. | Oncogene | 2014 |
| 23453666 | Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. | Am J Hum Genet | 2013 |
| 23911318 | AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. | Cell | 2013 |
| 23770567 | Mutational heterogeneity in cancer and the search for new cancer-associated genes. | Nature | 2013 |
| 24185511 | Somatic mutation of CDKN1B in small intestine neuroendocrine tumors. | Nat Genet | 2013 |
| 23386033 | Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. | Eur J Hum Genet | 2013 |
| 23622249 | Punctuated evolution of prostate cancer genomes. | Cell | 2013 |
| 23453666 | Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. | Am J Hum Genet | 2013 |
| 24185511 | Somatic mutation of CDKN1B in small intestine neuroendocrine tumors. | Nat Genet | 2013 |
| 23911318 | AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. | Cell | 2013 |
| 23622249 | Punctuated evolution of prostate cancer genomes. | Cell | 2013 |
| 23770567 | Mutational heterogeneity in cancer and the search for new cancer-associated genes. | Nature | 2013 |
| 23386033 | Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. | Eur J Hum Genet | 2013 |
| 22610119 | Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. | Nat Genet | 2012 |
| 22577224 | Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. | J Med Genet | 2012 |
| 22622578 | Melanoma genome sequencing reveals frequent PREX2 mutations. | Nature | 2012 |
| 22610119 | Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. | Nat Genet | 2012 |
| 22817889 | A landscape of driver mutations in melanoma. | Cell | 2012 |
| 22817889 | A landscape of driver mutations in melanoma. | Cell | 2012 |
| 22622578 | Melanoma genome sequencing reveals frequent PREX2 mutations. | Nature | 2012 |
| 22577224 | Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. | J Med Genet | 2012 |
| 16541075 | The finished DNA sequence of human chromosome 12. | Nature | 2006 |
| 16799556 | Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. | Nat Med | 2006 |
| 16541075 | The finished DNA sequence of human chromosome 12. | Nature | 2006 |
| 16799556 | Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. | Nat Med | 2006 |
| 16869740 | Detection of oncogenic mutations in the EGFR gene in lung adenocarcinoma with differential sensitivity to EGFR tyrosine kinase inhibitors. | Cold Spring Harb Symp Quant Biol | 2005 |
| 16869740 | Detection of oncogenic mutations in the EGFR gene in lung adenocarcinoma with differential sensitivity to EGFR tyrosine kinase inhibitors. | Cold Spring Harb Symp Quant Biol | 2005 |
| 12368253 | The generic genome browser: a building block for a model organism system database. | Genome Res | 2002 |
| 12368253 | The generic genome browser: a building block for a model organism system database. | Genome Res | 2002 |
| 10636739 | A case of Williams syndrome with a large, visible cytogenetic deletion. | J Med Genet | 1999 |
| 10636739 | A case of Williams syndrome with a large, visible cytogenetic deletion. | J Med Genet | 1999 |
| 9751737 | A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. | Proc Natl Acad Sci U S A | 1998 |
| 9637430 | Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. | Am J Med Genet | 1998 |
| 9751737 | A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. | Proc Natl Acad Sci U S A | 1998 |
| 9676431 | Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees. | Genomics | 1998 |
| 9637430 | Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. | Am J Med Genet | 1998 |
| 9676431 | Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees. | Genomics | 1998 |
| 8786125 | The generation and regional localization of 303 new chromosome 5 sequence-tagged sites. | Genomics | 1996 |
| 8786125 | The generation and regional localization of 303 new chromosome 5 sequence-tagged sites. | Genomics | 1996 |
| 7726172 | Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. | Am J Hum Genet | 1995 |
| 7726172 | Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. | Am J Hum Genet | 1995 |