Prader-willi syndrome SB Cassidy, S Schwartz, JL Miller, DJ Driscoll Genetics in medicine 14 (1), 10-26, 2012 | 1419 | 2012 |
Prader–willi syndrome SB Cassidy, DJ Driscoll European journal of human genetics 17 (1), 3-13, 2009 | 796 | 2009 |
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 | 524 | 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 | 511 | 1993 |
Nutritional phases in Prader–Willi syndrome JL Miller, CH Lynn, DC Driscoll, AP Goldstone, JA Gold, V Kimonis, ... American journal of medical genetics Part A 155 (5), 1040-1049, 2011 | 464 | 2011 |
Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ... The American Journal of Human Genetics 84 (6), 780-791, 2009 | 445 | 2009 |
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 | 436 | 2001 |
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 | 354 | 1999 |
Clinical and genetic aspects of Angelman syndrome CA Williams, DJ Driscoll, AI Dagli Genetics in Medicine 12 (7), 385-395, 2010 | 350 | 2010 |
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 | 327 | 1999 |
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 | 284 | 1996 |
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region MTC Jong, TA Gray, Y Ji, CC Glenn, S Saitoh, DJ Driscoll, RD Nicholls Human molecular genetics 8 (5), 783-793, 1999 | 281 | 1999 |
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes DJ Driscoll, MF Waters, CA Williams, RT Zori, CC Glenn, KM Avidano, ... Genomics 13 (4), 917-924, 1992 | 264 | 1992 |
Prader-willi syndrome DJ Driscoll, JL Miller, S Schwartz, SB Cassidy | 250 | 2017 |
Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21 MK McCormick, A Schinzel, MB Petersen, G Stetten, DJ Driscoll, ... Genomics 5 (2), 325-331, 1989 | 250 | 1989 |
Functional imprinting and epigenetic modification of the human SNRPN gene CC Glenn, KA Porter, MTC Jong, RD Nicholls, DJ Driscoll Human Molecular Genetics 2 (12), 2001-2005, 1993 | 211 | 1993 |
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. S Saitoh, K Buiting, PK Rogan, JL Buxton, DJ Driscoll, J Arnemann, ... Proceedings of the National Academy of Sciences 93 (15), 7811-7815, 1996 | 204 | 1996 |
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. CC Glenn, DJ Driscoll, TP Yang, RD Nicholls Molecular human reproduction 3 (4), 321-332, 1997 | 199 | 1997 |
Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis AM Khalil, FZ Boyar, DJ Driscoll Proceedings of the National Academy of Sciences 101 (47), 16583-16587, 2004 | 196 | 2004 |
Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations DJ Driscoll, BR Migeon Somatic cell and molecular genetics 16 (3), 267-282, 1990 | 191 | 1990 |