Publications by authors named "Robert D Nicholls"

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Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones.
Erik A Koppes, Marie A Johnson, James J Moresco, Patrizia Luppi, Dale W Lewis, Robert D Nicholls

PLoS Genet· April 2023

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Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.
Rachel M Wolfe, Al-Walid Mohsen, Cate Walsh Vockley, Carol A Bertrand, Robert D Nicholls

Am J Med Genet A· July 2021

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A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.
Erik A Koppes, Bethany K Redel, Marie A Johnson, Kristen J Skvorak, Lina Ghaloul-Gonzalez, Robert D Nicholls

JCI Insight· October 2020

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A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Igor Ribeiro Ferreira, Régis Afonso Costa, Leonardo Henrique Ferreira Gomes, Wilton Darleans Dos Santos Cunha, Latife Salomão Tyszler, Robert D Nicholls

Sci Rep· August 2020

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Robert D Nicholls

Am J Hum Genet· May 2019

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Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Manuel Schiff, Birgit Haberberger, Chuanwu Xia, Al-Walid Mohsen, Eric S Goetzman, Robert D Nicholls

Hum Mol Genet· June 2015

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Recommendations for the investigation of animal models of Prader-Willi syndrome.
James L Resnick, Robert D Nicholls, Rachel Wevrick,

Mamm Genome· June 2013

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Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.
Brian J Henson, Wan Zhu, Kelsey Hardaway, Jaime L Wetzel, Mihaela Stefan, Robert D Nicholls

PLoS One· September 2012

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In vivo evolution of tumor-derived endothelial cells.
Terence F McGuire, Gangadharan B Sajithlal, Jie Lu, Robert D Nicholls, Edward V Prochownik

PLoS One· September 2012

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Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome.
Mihaela Stefan, Rebecca A Simmons, Suzanne Bertera, Massimo Trucco, Farzad Esni, Robert D Nicholls

Am J Physiol Endocrinol Metab· May 2011

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The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.
Shivendra Kishore, Amit Khanna, Zhaiyi Zhang, Jingyi Hui, Piotr J Balwierz, Robert D Nicholls

Hum Mol Genet· April 2010

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Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1.
Jun H Park, Doris A Stoffers, Robert D Nicholls, Rebecca A Simmons

J Clin Invest· June 2008

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Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences.
Tarjei S Mikkelsen, Matthew J Wakefield, Bronwen Aken, Chris T Amemiya, Jean L Chang, Robert D Nicholls

Nature· May 2007

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Recent assembly of an imprinted domain from non-imprinted components.
Robert W Rapkins, Tim Hore, Megan Smithwick, Eleanor Ager, Andrew J Pask, Robert D Nicholls

PLoS Genet· October 2006

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The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans.
Todd A Gray, Alison Wilson, Patrick J Fortin, Robert D Nicholls

Proc Natl Acad Sci U S A· August 2006

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The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors.
Karen T Smith, Robert D Nicholls, Daniel Reines

Nucleic Acids Res· March 2006

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Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.
Mihaela Stefan, Kathryn C Claiborn, Edyta Stasiek, Jing-Hua Chai, Tohru Ohta, Robert D Nicholls

BMC Genomics· November 2005

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.
Sara Rodriguez-Jato, Robert D Nicholls, Daniel J Driscoll, Thomas P Yang

Nucleic Acids Res· September 2005

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Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.
Feng Ding, Yelena Prints, Madhu S Dhar, Dabney K Johnson, Carmen Garnacho-Montero, Robert D Nicholls

Mamm Genome· June 2005

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A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.
Mihaela Stefan, Toni Portis, Richard Longnecker, Robert D Nicholls

Genomics· May 2005

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Possible genomic imprinting of three human obesity-related genetic loci.
Chuanhui Dong, Wei-Dong Li, Frank Geller, Lei Lei, Ding Li, Robert D Nicholls

Am J Hum Genet· March 2005

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Cellular source of the poxviral N1R/p28 gene family.
Robert D Nicholls, Todd A Gray

Virus Genes· December 2004

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Physical mapping of the pink-eyed dilution complex in mouse chromosome 7 shows that Atp10c is the only transcript between Gabrb3 and Ube3a.
Madhu S Dhar, Loren J Hauser, Robert D Nicholls, Dabney K Johnson

DNA Seq· August 2004

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What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?
Mihaela Stefan, Robert D Nicholls

Curr Diab Rep· April 2004

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NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D Nicholls, John K Fink

Am J Hum Genet· October 2003

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