Melanie A Jones
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Explore the profile of Melanie A Jones including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
494
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Recent Articles
1.
Jones M, Timms K, Hatcher S, Cogan E, Comeaux M, Perry M, et al.
Genes Chromosomes Cancer
. 2023 May;
62(10):589-596.
PMID: 37222498
Background: Approximately half of ovarian tumors have defects within the homologous recombination repair pathway. Tumors carrying pathogenic variants (PVs) in BRCA1/BRCA2 are more likely to respond to poly-ADP ribose polymerase...
2.
Ortega V, Louie R, Jones M, Chaubey A, DuPont B, Britt A, et al.
Mol Cytogenet
. 2021 Jul;
14(1):37.
PMID: 34261519
Background: Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such...
3.
Zarate Y, Jones J, Jones M, Millan F, Juusola J, Vertino-Bell A, et al.
Eur J Hum Genet
. 2016 Jun;
24(7):1095.
PMID: 27307113
No abstract available.
4.
Zarate Y, Jones J, Jones M, Millan F, Juusola J, Vertino-Bell A, et al.
Eur J Hum Genet
. 2015 Nov;
24(7):1080-3.
PMID: 26577041
Neurodegeneration with brain iron accumulation (NBIA) encompasses a heterogeneous group of inherited progressive neurological diseases. Beta-propeller protein-associated neurodegeneration (BPAN) has been estimated to account for ~7% of all cases of...
5.
Zhang W, James P, Ng B, Li X, Xia B, Rong J, et al.
Clin Chem
. 2015 Oct;
62(1):208-17.
PMID: 26430078
Background: Primary deficiencies in mannosylation of N-glycans are seen in a majority of patients with congenital disorders of glycosylation (CDG). We report the discovery of a series of novel N-glycans...
6.
Jones M, Amr S, Ferebee A, Huynh P, Rosenfeld J, Miles M, et al.
Biol Open
. 2014 Apr;
3(5):342-52.
PMID: 24705017
Wolfram syndrome (WFS) is a progressive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS1 and WFS2 are caused by recessive mutations in the genes Wolfram...
7.
Jones M, Rhodenizer D, da Silva C, Huff I, Keong L, Bean L, et al.
Mol Genet Metab
. 2013 Jun;
110(1-2):78-85.
PMID: 23806237
Congenital disorders of glycosylation (CDG) are comprised of over 60 disorders with the majority of defects residing within the N-glycosylation pathway. Approximately 20% of patients do not survive beyond five...
8.
Ng B, Hackmann K, Jones M, Eroshkin A, He P, Wiliams R, et al.
Am J Hum Genet
. 2012 Mar;
90(4):685-8.
PMID: 22444671
CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss. Whole-exome sequencing on five previously reported cases identified PIGL,...
9.
Jones M, Ng B, Bhide S, Chin E, Rhodenizer D, He P, et al.
Am J Hum Genet
. 2012 Feb;
90(2):363-8.
PMID: 22305527
Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. Approximately 20% of patients do not survive beyond the age of 5 years old as a result of...
10.
Jones M, Bhide S, Chin E, Ng B, Rhodenizer D, Zhang V, et al.
Genet Med
. 2011 Aug;
13(11):921-32.
PMID: 21811164
Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated that more than 40% of congenital disorders...