| Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome RD Nicholls, JHM Knoll, MG Butler, S Karam, M Lalande Nature 342 (6247), 281-285, 1989 | 1035 | 1989 |
| A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 ST Reeders, MH Breuning, KE Davies, RD Nicholls, AP Jarman, ... Nature 317 (6037), 542-544, 1985 | 967 | 1985 |
| Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1 JH Park, DA Stoffers, RD Nicholls, RA Simmons The Journal of clinical investigation 118 (6), 2316-2324, 2008 | 811 | 2008 |
| Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences TS Mikkelsen, MJ Wakefield, B Aken, CT Amemiya, JL Chang, S Duke, ... Nature 447 (7141), 167-177, 2007 | 788 | 2007 |
| Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes RD Nicholls, JL Knepper Annual review of genomics and human genetics 2 (1), 153-175, 2001 | 770 | 2001 |
| Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 K Buiting, S Saitoh, S Gross, B Dittrich, S Schwartz, RD Nicholls, ... Nature genetics 9 (4), 395-400, 1995 | 719 | 1995 |
| Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion JHM Knoll, RD Nicholls, RE Magenis, JM Graham Jr, M Lalande, SA Latt, ... American journal of medical genetics 32 (2), 285-290, 1989 | 702 | 1989 |
| Imprinting in Prader–Willi and Angelman syndromes RD Nicholls, S Saitoh, B Horsthemke Trends in Genetics 14 (5), 194-200, 1998 | 538 | 1998 |
| A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome NJ Smilinich, CD Day, GV Fitzpatrick, GM Caldwell, AC Lossie, ... Proceedings of the National Academy of Sciences 96 (14), 8064-8069, 1999 | 531 | 1999 |
| Allele-specific replication timing of imprinted gene regions D Kitsberg, S Selig, M Brandels, I Simon, I Keshet, DJ Driscoll, ... Nature 364 (6436), 459-463, 1993 | 514 | 1993 |
| A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism EM Rinchik, SJ Bultman, B Horsthemke, ST Lee, KM Strunk, RA Spritz, ... Nature 361 (6407), 72-76, 1993 | 486 | 1993 |
| Distinct phenotypes distinguish the molecular classes of Angelman syndrome AC Lossie, MM Whitney, D Amidon, HJ Dong, P Chen, D Theriaque, ... Journal of medical genetics 38 (12), 834-845, 2001 | 444 | 2001 |
| Recombination at the human α-globin gene cluster: sequence features and topological constraints RD Nicholls, N Fischel-Ghodsian, DR Higgs Cell 49 (3), 369-378, 1987 | 393 | 1987 |
| Imprinting-mutation mechanisms in Prader-Willi syndrome T Ohta, TA Gray, PK Rogan, K Buiting, JM Gabriel, S Saitoh, B Muralidhar, ... The American Journal of Human Genetics 64 (2), 397-413, 1999 | 357 | 1999 |
| Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints JM Amos-Landgraf, Y Ji, W Gottlieb, T Depinet, AE Wandstrat, SB Cassidy, ... The American Journal of Human Genetics 65 (2), 370-386, 1999 | 329 | 1999 |
| The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing S Kishore, A Khanna, Z Zhang, J Hui, PJ Balwierz, M Stefan, C Beach, ... Human molecular genetics 19 (7), 1153-1164, 2010 | 323 | 2010 |
| Structure of chromosomal duplicons and their role in mediating human genomic disorders Y Ji, EE Eichler, S Schwartz, RD Nicholls Genome research 10 (5), 597-610, 2000 | 322 | 2000 |
| Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene B Dittrich, K Buiting, B Korn, S Rickard, J Buxton, S Saitoh, RD Nicholls, ... Nature genetics 14 (2), 163-170, 1996 | 313 | 1996 |
| The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis MJ Mascari, W Gottlieb, PK Rogan, MG Butler, DA Waller, JAL Armour, ... New England Journal of Medicine 326 (24), 1599-1607, 1992 | 295 | 1992 |
| Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. CC Glenn, S Saitoh, MT Jong, MM Filbrandt, U Surti, DJ Driscoll, ... American journal of human genetics 58 (2), 335, 1996 | 288 | 1996 |
