Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy. M Mangin, AC Webb, BE Dreyer, JT Posillico, K Ikeda, EC Weir, ... Proceedings of the National Academy of Sciences 85 (2), 597-601, 1988 | 507 | 1988 |
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta‐thromboglobulin. A Richmond, E Balentien, HG Thomas, G Flaggs, DE Barton, J Spiess, ... The EMBO journal 7 (7), 2025-2033, 1988 | 428 | 1988 |
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ... PLoS genetics 9 (3), e1003212, 2013 | 342 | 2013 |
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility AT Rovio, DR Marchington, S Donat, HC Schuppe, J Abel, E Fritsche, ... Nature genetics 29 (3), 261-262, 2001 | 227 | 2001 |
The copy number variation landscape of congenital anomalies of the kidney and urinary tract M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ... Nature genetics 51 (1), 117-127, 2019 | 219 | 2019 |
A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. BS Kwon, C Chintamaneni, CA Kozak, NG Copeland, DJ Gilbert, ... Proceedings of the National Academy of Sciences 88 (20), 9228-9232, 1991 | 215 | 1991 |
Human tyrosinase gene, mapped to chromosome 11 (q14→ q21), defines second region of homology with mouse chromosome 7 DE Barton, BS Kwon, U Francke Genomics 3 (1), 17-24, 1988 | 212 | 1988 |
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence DC Rubinsztein, W Amos, J Leggo, S Goodburn, RS Ramesar, J Old, ... Nature Genetics 7 (4), 525-530, 1994 | 184 | 1994 |
A novel protein tyrosine kinase gene whose expression is modulated during endothelial-cell differentiation M Ruta, R Howk, G Ricca, W Drohan, M Zabelshansky, G Laureys, ... Oncogene 3 (1), 9-15, 1988 | 181 | 1988 |
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding RA Spritz, K Strunk, CS Surowy, SO Hoch, DE Barton, U Francke Nucleic acids research 15 (24), 10373-10391, 1987 | 172 | 1987 |
Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased … DC Rubinsztein, DE Barton, BC Davison, MA Ferguson-Smith Human molecular genetics 2 (10), 1713-1715, 1993 | 166 | 1993 |
The detection of large deletions or duplications in genomic DNA JAL Armour, DE Barton, DJ Cockburn, GR Taylor Human Mutation 20 (5), 325-337, 2002 | 163 | 2002 |
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) M Claustres, V Kožich, E Dequeker, B Fowler, JY Hehir-Kwa, K Miller, ... European journal of human genetics 22 (2), 160-170, 2014 | 159 | 2014 |
Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family. DE Barton, BE Foellmer, J Du, J Tamm, R Derynck, U Francke Oncogene research 3 (4), 323-331, 1988 | 159 | 1988 |
Genetic drivers of kidney defects in the DiGeorge syndrome E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, EA Otto, ... New England Journal of Medicine 376 (8), 742-754, 2017 | 155 | 2017 |
Mapping of genes for inhibin subunits α, βA, and βB on human and mouse chromosomes and studies of jsd mice DE Barton, TL Yang-Feng, AJ Mason, PH Seeburg, U Francke Genomics 5 (1), 91-99, 1989 | 135 | 1989 |
Chromosome mapping of the growth hormone receptor gene in man and mouse DE Barton, BE Foellmer, WI Wood, U Francke Cytogenetic and Genome Research 50 (2-3), 137-141, 1989 | 134 | 1989 |
Quality control in molecular genetic testing E Dequeker, S Ramsden, WW Grody, TT Stenzel, DE Barton Nature Reviews Genetics 2 (9), 717-723, 2001 | 131 | 2001 |
Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma RM Irving, DA Moffat, DG Hardy, DE Barton, JH Xuereb, ER Maher Human molecular genetics 3 (2), 347-350, 1994 | 128 | 1994 |
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. RE Slatter, M Elliott, K Welham, M Carrera, PN Schofield, DE Barton, ... Journal of medical genetics 31 (10), 749-753, 1994 | 126 | 1994 |