Robert D Nicholls
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Explore the profile of Robert D Nicholls including associated specialties, affiliations and a list of published articles.
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28
Citations
1261
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Recent Articles
1.
Koppes E, Johnson M, Moresco J, Luppi P, Lewis D, Stolz D, et al.
PLoS Genet
. 2023 Apr;
19(4):e1010710.
PMID: 37068109
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse...
2.
Wolfe R, Mohsen A, Walsh Vockley C, Bertrand C, Nicholls R, Heiman P, et al.
Am J Med Genet A
. 2021 May;
185(7):2046-2055.
PMID: 33949097
Guanylate cyclase 2C (GC-C), encoded by the GUCY2C gene, is implicated in hereditary early onset chronic diarrhea. Several families with chronic diarrhea symptoms have been identified with autosomal dominant, gain-of-function...
3.
Koppes E, Redel B, Johnson M, Skvorak K, Ghaloul-Gonzalez L, Yates M, et al.
JCI Insight
. 2020 Oct;
5(20).
PMID: 33055427
Phenylalanine hydroxylase-deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleterious effects of hyperphenylalaninemia, but adherence to...
4.
Ferreira I, Costa R, Gomes L, Dos Santos Cunha W, Tyszler L, Freitas S, et al.
Sci Rep
. 2020 Aug;
10(1):13026.
PMID: 32747801
Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct imprinted disorders characterized by genetic abnormalities at 15q11-q13. Early diagnosis of both syndromes provides improved treatment and accurate genetic counseling....
5.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux J, et al.
Am J Hum Genet
. 2019 Apr;
104(5):815-834.
PMID: 31031012
We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic...
6.
Schiff M, Haberberger B, Xia C, Mohsen A, Goetzman E, Wang Y, et al.
Hum Mol Genet
. 2015 Feb;
24(11):3238-47.
PMID: 25721401
Acyl-CoA dehydrogenase 9 (ACAD9) is an assembly factor for mitochondrial respiratory chain Complex I (CI), and ACAD9 mutations are recognized as a frequent cause of CI deficiency. ACAD9 also retains...
7.
Resnick J, Nicholls R, Wevrick R
Mamm Genome
. 2013 Apr;
24(5-6):165-78.
PMID: 23609791
Prader-Willi syndrome (PWS) occurs in about 1 in 15,000 individuals and is a contiguous gene disorder causing developmental disability, hyperphagia usually with obesity, and behavioral problems, including an increased incidence...
8.
McGuire T, Sajithlal G, Lu J, Nicholls R, Prochownik E
PLoS One
. 2012 May;
7(5):e37138.
PMID: 22623986
The growth of a malignant tumor beyond a certain, limited size requires that it first develop an independent blood supply. In addition to providing metabolic support, this neovasculature also allows...
9.
Henson B, Zhu W, Hardaway K, Wetzel J, Stefan M, Albers K, et al.
PLoS One
. 2012 May;
7(5):e36505.
PMID: 22574173
Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders that are characterized by progressive spasticity of the lower extremities, due to axonal degeneration in the corticospinal motor tracts. HSPs...
10.
Stefan M, Simmons R, Bertera S, Trucco M, Esni F, Drain P, et al.
Am J Physiol Endocrinol Metab
. 2011 Feb;
300(5):E909-22.
PMID: 21343540
Prader-Willi syndrome (PWS) is a multisystem disorder caused by genetic loss of function of a cluster of imprinted, paternally expressed genes. Neonatal failure to thrive in PWS is followed by...