Rebekah Jobling
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Explore the profile of Rebekah Jobling including associated specialties, affiliations and a list of published articles.
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28
Citations
925
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Recent Articles
1.
DAmours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, et al.
BMJ Open
. 2024 Sep;
14(9):e090084.
PMID: 39231549
Introduction: Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic...
2.
Martin C, Sarlos K, Logan C, Thakur R, Parry D, Bizard A, et al.
Am J Hum Genet
. 2024 May;
111(5):996.
PMID: 38701747
No abstract available.
3.
Nil Z, Deshwar A, Huang Y, Barish S, Zhang X, Choufani S, et al.
Am J Hum Genet
. 2023 Oct;
110(11):1919-1937.
PMID: 37827158
Misregulation of histone lysine methylation is associated with several human cancers and with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding a lysine methyltransferase (KMT) that methylates histone...
4.
Priestley J, Deshwar A, Murthy H, DAgostino M, Dupuis L, Gangaram B, et al.
Genet Med
. 2023 May;
25(8):100863.
PMID: 37125634
Purpose: Bone morphogenic proteins (BMPs) regulate gene expression that is related to many critical developmental processes, including osteogenesis for which they are named. In addition, BMP2 is widely expressed in...
5.
Luca S, Clausen M, Shaw A, Lee W, Krishnapillai S, Adi-Wauran E, et al.
Hum Genet
. 2023 Jan;
142(3):321-330.
PMID: 36629921
Chatbots, web-based artificial intelligence tools that simulate human conversation, are increasingly in use to support many areas of genomic medicine. However, patient preferences towards using chatbots across the range of...
6.
Hartley T, Soubry E, Acker M, Osmond M, Couse M, Gillespie M, et al.
Clin Genet
. 2022 Nov;
103(3):288-300.
PMID: 36353900
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families...
7.
Vogt L, Lorenzo M, B Prendergast D, Jobling R, Gill P
Am J Med Genet A
. 2022 Aug;
188(10):3106-3109.
PMID: 35938194
EEF1A2 is a gene whose protein product, eukaryotic translation elongation factor 1 alpha 2 (eEF1A2), plays an important role in neurodevelopment. Reports of individuals with pathogenic variants in EEF1A2 are...
8.
Jegathisawaran J, Tsiplova K, Hayeems R, Marshall C, Stavropoulos D, Pereira S, et al.
Genet Med
. 2022 Feb;
24(5):1027-1036.
PMID: 35219592
Purpose: Genome sequencing (GS) can aid clinical management of multiple pediatric conditions. Insurers require accurate cost information to inform funding and implementation decisions. The objective was to compare the laboratory...
9.
van der Welle R, Jobling R, Burns C, Sanza P, van der Beek J, Fasano A, et al.
EMBO Mol Med
. 2021 Apr;
13(5):e13258.
PMID: 33851776
Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here,...
10.
Martin E, Enriquez A, Sparrow D, Humphreys D, McInerney-Leo A, Leo P, et al.
Hum Mol Genet
. 2020 Dec;
29(22):3662-3678.
PMID: 33276377
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11...