| Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member JD Brook, ME McCurrach, HG Harley, AJ Buckler, D Church, H Aburatani, ... Cell 68 (4), 799-808, 1992 | 3336 | 1992 |
| Myotonic dystrophy P Harper OUP Oxford, 2009 | 1901 | 2009 |
| Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene JW Foster, MA Dominguez-Steglich, S Guioli, C Kwok, PA Weller, ... Nature 372 (6506), 525-530, 1994 | 1848 | 1994 |
| Targeted integration of adeno‐associated virus (AAV) into human chromosome 19. RJ Samulski, X Zhu, X Xiao, JD Brook, DE Housman, N Epstein, ... The EMBO journal 10 (12), 3941-3950, 1991 | 1119 | 1991 |
| Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family Q Yi Li, RA Newbury-Ecob, JA Terrett, DI Wilson, ARJ Curtis, C Ho Yi, ... Nature genetics 15 (1), 21-29, 1997 | 1079 | 1997 |
| Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy HG Harley, JD Brook, SA Rundle, S Crow, W Reardon, AJ Buckler, ... Nature 355 (6360), 545-546, 1992 | 930 | 1992 |
| Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. AJ Buckler, DD Chang, SL Graw, JD Brook, DA Haber, PA Sharp, ... Proceedings of the National Academy of Sciences 88 (9), 4005-4009, 1991 | 682 | 1991 |
| Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells M Fardaei, MT Rogers, HM Thorpe, K Larkin, MG Hamshere, PS Harper, ... Human molecular genetics 11 (7), 805-814, 2002 | 543 | 2002 |
| Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. HG Harley, SA Rundle, JC MacMillan, J Myring, JD Brook, S Crow, ... American journal of human genetics 52 (6), 1164, 1993 | 483 | 1993 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 416 | 2016 |
| Mutation in myosin heavy chain 6 causes atrial septal defect YH Ching, TK Ghosh, SJ Cross, EA Packham, L Honeyman, S Loughna, ... Nature genetics 37 (4), 423-428, 2005 | 351 | 2005 |
| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ... The American Journal of Human Genetics 91 (3), 489-501, 2012 | 350 | 2012 |
| T-box genes in human disorders EA Packham, JD Brook Human molecular genetics 12 (suppl_1), R37-R44, 2003 | 293 | 2003 |
| In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts M Fardaei, K Larkin, JD Brook, MG Hamshere Nucleic acids research 29 (13), 2766-2771, 2001 | 275 | 2001 |
| Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal C Kwok, PA Weller, S Guioli, JW Foster, S Mansour, O Zuffardi, ... American journal of human genetics 57 (5), 1028, 1995 | 258 | 1995 |
| Unstable DNA sequence in myotonic dystrophy HG Harley, SA Rundle, W Reardon, J Myring, S Crow, PS Harper, ... The Lancet 339 (8802), 1125-1128, 1992 | 248 | 1992 |
| Maternal ageing and aneuploid embryos—evidence from the mouse that biological and not chronological age is the important influence JD Brook, RG Gosden, AC Chandley Human genetics 66, 41-45, 1984 | 195 | 1984 |
| Characterization of the TBX5 binding site and analysis of mutations that cause Holt–Oram syndrome TK Ghosh, EA Packham, AJ Bonser, TE Robinson, SJ Cross, JD Brook Human molecular genetics 10 (18), 1983-1994, 2001 | 184 | 2001 |
| Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 182 | 2014 |
| α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects JT Granados-Riveron, TK Ghosh, M Pope, F Bu'Lock, C Thornborough, ... Human molecular genetics 19 (20), 4007-4016, 2010 | 171 | 2010 |
Jess BuxtonVerified email at ucl.ac.uk