Grace Vassallo
Overview
Explore the profile of Grace Vassallo including associated specialties, affiliations and a list of published articles.
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38
Citations
1533
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Recent Articles
1.
Forde C, Smith M, Burghel G, Bowers N, Roberts N, Lavin T, et al.
J Med Genet
. 2024 Jun;
61(9):856-860.
PMID: 38925914
Objectives: New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de...
2.
Evans D, Halliday D, Obholzer R, Afridi S, Forde C, Rutherford S, et al.
Neurooncol Adv
. 2023 Apr;
5(1):vdad025.
PMID: 37051330
Background: Radiation treatment of benign tumors in tumor predisposition syndromes is controversial, but short-term studies from treatment centers suggest safety despite apparent radiation-associated malignancy being reported. We determined whether radiation...
3.
Garg S, Williams S, Jung J, Pobric G, Nandi T, Lim B, et al.
Sci Rep
. 2022 Nov;
12(1):18297.
PMID: 36316421
Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive phenotypes common to neurodevelopmental conditions such as autism. GABAergic dysregulation underlies working memory impairments seen in NF1. This mechanistic experimental...
4.
Sitaram S, Banka H, Vassallo G, Pavaine J, Fairclough A, Wright R, et al.
Am J Med Genet A
. 2022 Oct;
191(1):234-237.
PMID: 36271826
Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy...
5.
Sawyer C, Green J, Lim B, Pobric G, Jung J, Vassallo G, et al.
Cereb Cortex Commun
. 2022 Jun;
3(2):tgac021.
PMID: 35673329
Introduction: Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive impairments, particularly with deficits in working memory. Prior research indicates that brain structure is affected in NF1, but it...
6.
Collins-Sawaragi Y, Ferner R, Vassallo G, De Agro G, Eccles S, Cadwgan J, et al.
Am J Med Genet A
. 2022 Feb;
188(6):1723-1727.
PMID: 35178860
We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and...
7.
Geoffray M, Robinson L, Ramamurthy K, Manderson L, OFlaherty J, Lehtonen A, et al.
J Psychiatr Res
. 2021 Jun;
140:545-550.
PMID: 34182240
The impact of the Neurofibromatosis type 1 (NF1) on cognition have been subject to much clinical investigation, but environmental modifiers of disease expression have not yet been systematically investigated. The...
8.
Pobric G, Taylor J, Ramalingam H, Pye E, Robinson L, Vassallo G, et al.
J Autism Dev Disord
. 2021 May;
52(4):1478-1494.
PMID: 33963966
Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in...
9.
Alsharhan H, He M, Edmondson A, Daniel E, Chen J, Donald T, et al.
J Inherit Metab Dis
. 2021 Mar;
44(4):1001-1012.
PMID: 33734437
Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual disability, infantile spasms, and...
10.
Forde C, King A, Rutherford S, Hammerbeck-Ward C, Lloyd S, Freeman S, et al.
Neuro Oncol
. 2020 Dec;
23(7):1113-1124.
PMID: 33336705
Background: Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to guide clinical trial design. Methods: A prospective database of patients meeting NF2 diagnostic criteria, reviewed between...