Carl Fratter
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Explore the profile of Carl Fratter including associated specialties, affiliations and a list of published articles.
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Citations
1008
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Recent Articles
1.
Hayesmoore J, Newbury-Ecob R, Durell S, Dillon A, Kanani F, Beecroft F, et al.
J Med Genet
. 2024 Dec;
62(2):123-125.
PMID: 39715635
No abstract available.
2.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P, et al.
Am J Hum Genet
. 2024 May;
111(6):1140-1164.
PMID: 38776926
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome...
3.
Dombi E, Marinaki T, Spingardi P, Millar V, Hadjichristou N, Carver J, et al.
Front Cell Dev Biol
. 2024 Apr;
12:1260496.
PMID: 38665433
In mitochondrial DNA (mtDNA) depletion syndrome (MDS), patients cannot maintain sufficient mtDNA for their energy needs. MDS presentations range from infantile encephalopathy with hepatopathy (Alpers syndrome) to adult chronic progressive...
4.
Montague S, Price J, Pennycott K, Pavey N, Martin E, Thirlwell I, et al.
J Thromb Haemost
. 2024 Mar;
22(8):2281-2293.
PMID: 38492852
Background: Scott syndrome is a mild platelet-type bleeding disorder, first described in 1979, with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure and confirmed by sequencing. The syndrome...
5.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Blickhauser B, Stenton S, Neuhofer C, Floride E, Nesbitt V, Fratter C, et al.
Brain
. 2024 Mar;
147(6):1967-1974.
PMID: 38478578
Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a subacute necrotizing encephalomyelopathy and characterized by bilateral basal ganglia and/or brainstem lesions. LSS is associated with variants...
6.
Mavraki E, Labrum R, Sergeant K, Alston C, Woodward C, Smith C, et al.
Eur J Hum Genet
. 2022 Dec;
31(2):148-163.
PMID: 36513735
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to...
7.
Shammas M, Huang X, Wu B, Fessler E, Song I, Randolph N, et al.
J Clin Invest
. 2022 Jun;
132(14).
PMID: 35700042
Mitochondrial stress triggers a response in the cell's mitochondria and nucleus, but how these stress responses are coordinated in vivo is poorly understood. Here, we characterize a family with myopathy...
8.
Stapley R, Poulter N, Khan A, Smith C, Bignell P, Fratter C, et al.
J Thromb Haemost
. 2021 Nov;
20(2):478-485.
PMID: 34758189
Background: A significant challenge is faced for the genetic diagnosis of inherited platelet disorders in which candidate genetic variants can be found in more than 100 bleeding, thrombotic, and platelet...
9.
Schon K, Horvath R, Wei W, Calabrese C, Tucci A, Ibanez K, et al.
BMJ
. 2021 Nov;
375:e066288.
PMID: 34732400
Objective: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Design: Cohort study. Setting: National Health Service, England, including secondary and...
10.
Meldau S, Fratter C, Bhengu L, Sergeant K, Khan K, Riordan G, et al.
Mol Genet Metab Rep
. 2020 Aug;
24:100629.
PMID: 32742935
Methods: DNA from five patients with low to absent PDHC activity in fibroblasts were subjected to PDHC deficiency gene panel analysis. Included in the panel were: and . Results: No...