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» Authors » Michael O Dorschner

Michael O Dorschner

Explore the profile of Michael O Dorschner including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 65
Citations 11406
Followers 0
Related Specialties
Genetics
Neurology
Science
Top 10 Co-Authors
Gail P Jarvik
Laura M Amendola
John A Stamatoyannopoulos
Deborah A Nickerson
Peter J Sabo
Michael C Leo
Brian H Shirts
Thomas D Bird
Katrina A B Goddard
Benjamin S Wilfond
Published In
Am J Hum Genet
Genet Med
Contemp Clin Trials
Proc Natl Acad Sci U S A
Nature
Affiliations
Soon will be listed here.
Recent Articles
1.
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto R, et al.
Ann Neurol . 2024 Sep; 96(6):1209-1224. PMID: 39230499
Objective: Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in...
2.
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease
Korvatska O, Bucks S, Yoda R, Nolan A, Dorschner M, Tsuang D, et al.
J Neurol Sci . 2023 Aug; 452:120763. PMID: 37598468
Background: NOTCH3 is the causative gene for autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) which is associated with both stroke and dementia. When CADASIL presents primarily as...
3.
Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots
Lorenzo-Betancor O, Galosi L, Bonfili L, Eleuteri A, Cecarini V, Verin R, et al.
Mov Disord . 2022 Sep; 37(12):2345-2354. PMID: 36086934
Background: Several genetic models that recapitulate neurodegenerative features of Parkinson's disease (PD) exist, which have been largely based on genes discovered in monogenic PD families. However, spontaneous genetic mutations have...
4.
An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial
Joseph G, Leo M, Riddle L, Guerra C, Amendola L, Gilmore M, et al.
Genet Med . 2022 Sep; 24(11):2228-2239. PMID: 36053287
Purpose: Effective approaches to communicate genomic information are needed to ensure equitable care. In a randomized controlled superiority trial, we tested a novel practice model that aims to make genetic...
5.
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial
Liles E, Leo M, Freed A, Porter K, Zepp J, Kauffman T, et al.
Genet Med . 2022 May; 24(8):1664-1674. PMID: 35522237
Purpose: Individuals having genomic sequencing can choose to be notified about pathogenic variants in genes unrelated to the testing indication. A decision aid can facilitate weighing one's values before making...
6.
Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access
Amendola L, Shuster E, Leo M, Dorschner M, Rolf B, Shirts B, et al.
Genet Med . 2022 Mar; 24(6):1196-1205. PMID: 35305866
Purpose: This study aimed to evaluate the laboratory-related outcomes of participants who were offered genomic testing based on cancer family history risk assessment tools. Methods: Patients from clinics that serve...
7.
Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer
Burton K, Mahen E, Konnick E, Blau S, Dorschner M, Ramirez A, et al.
JCO Precis Oncol . 2022 Mar; 6:e2100280. PMID: 35294224
Purpose: Patients with metastatic triple-negative breast cancer (mTNBC) have poor outcomes. The Intensive Trial of Omics in Cancer (ITOMIC) sought to determine the feasibility and potential efficacy of informing treatment...
8.
Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds
Parada C, El-Ghazali F, Toglia D, Ruzevick J, McAvoy M, Emerson S, et al.
J Am Heart Assoc . 2022 Feb; 11(4):e024289. PMID: 35156398
Background Activating variants in platelet-derived growth factor receptor beta (PDGFRB), including a variant we have previously described (p.Tyr562Cys [g.149505130T>C [GRCh37/hg19]; c.1685A>G]), are associated with development of multiorgan pathology, including aneurysm...
9.
Corrigendum to "Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations" [Contemporary Clinical Trials 106 (2021) 106432]
Mittendorf K, Kauffman T, Amendola L, Anderson K, Biesecker B, Dorschner M, et al.
Contemp Clin Trials . 2022 Feb; 114:106682. PMID: 35123916
No abstract available.
10.
Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations
Mittendorf K, Kauffman T, Amendola L, Anderson K, Biesecker B, Dorschner M, et al.
Contemp Clin Trials . 2021 May; 106:106432. PMID: 33984519
Advances in the application of genomic technologies in clinical care have the potential to increase existing healthcare disparities. Studies have consistently shown that only a fraction of eligible patients with...