Katherine Schon
Overview
Explore the profile of Katherine Schon including associated specialties, affiliations and a list of published articles.
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21
Citations
224
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Recent Articles
1.
Nmezi B, Bey G, Oranburg T, Dudnyk K, Lardo S, Herdman N, et al.
Nat Commun
. 2025 Feb;
16(1):1373.
PMID: 39910058
The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological...
2.
Richardson M, Holdren M, Brannan T, de la Hoya M, Spurdle A, Tavtigian S, et al.
Am J Hum Genet
. 2024 Sep;
111(11):2411-2426.
PMID: 39317201
The ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology, and variant interpretation. This VCEP...
3.
Ratnaike T, Elkhateeb N, Lochmuller A, Gilmartin C, Schon K, Horvath R, et al.
BMJ Neurol Open
. 2024 Jun;
6(1):e000650.
PMID: 38860231
Background: We aimed to determine whether sodium valproate (VPA) should be contraindicated in all mitochondrial diseases, due to known VPA-induced severe hepatotoxicity in some mitochondrial diseases. Methods: We systematically reviewed...
4.
Richardson M, Holdren M, Brannan T, de la Hoya M, Spurdle A, Tavtigian S, et al.
medRxiv
. 2024 Jun;
PMID: 38854136
The ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology and variant interpretation. This VCEP...
5.
Olimpio C, Paramonov I, Matalonga L, Laurie S, Schon K, Polavarapu K, et al.
J Neuromuscul Dis
. 2024 May;
11(4):767-775.
PMID: 38759022
Background: The genetic diagnosis of mitochondrial disorders is complicated by its genetic and phenotypic complexity. Next generation sequencing techniques have much improved the diagnostic yield for these conditions. A cohort...
6.
Major T, Arany E, Schon K, Simo M, Karcagi V, van den Ameele J, et al.
Front Neurol
. 2023 Dec;
14():1292320.
PMID: 38107630
Background: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to...
7.
Nmezi B, Bey G, Oranburg T, Dudnyk K, Lardo S, Herdman N, et al.
bioRxiv
. 2023 Aug;
PMID: 37609196
The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological...
8.
Neves R, De Dios Perez B, Panek R, Jagani S, Wilne S, Bhatt J, et al.
Cancer Med
. 2023 Jun;
12(13):14663-14673.
PMID: 37264737
Background/objectives: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected...
9.
10.
Tiet M, Nannoni S, Scoffings D, Schon K, Horvath R, Markus H, et al.
Neurol Genet
. 2021 Dec;
7(6):e640.
PMID: 34859152
Background And Objectives: To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with ataxia-telangiectasia (AT). Methods: We assessed...