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Robert Nicholls
Robert Nicholls
Professor of Medical Genetics, Pediatrics, University of Pittsburgh
Verified email at chp.edu
Title
Cited by
Cited by
Year
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
10251989
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
9591985
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
8012008
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
7742007
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
7592001
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
7031995
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
7021989
Imprinting in Prader–Willi and Angelman syndromes
RD Nicholls, S Saitoh, B Horsthemke
Trends in Genetics 14 (5), 194-200, 1998
5331998
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
5281999
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
5101993
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
4791993
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
4302001
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
3931987
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
3481999
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
3242000
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
3241999
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
3122010
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
3061996
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
2881992
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
2831996
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