MichaelOwenDorschnerMD

PubMed

• NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset ...
  Olena Korvatska, Stephanie A Bucks, Rebecca A Yoda, Amber Nolan, Michael O Dorschner, Debby Tsuang, Suman Jayadev, Wendy H Raskind, Thomas D Bird> ;Journal of the Neurological Sciences. 2023 Sep 15
• 3 citations
  An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial.
  Galen Joseph, Michael C Leo, Leslie Riddle, Claudia Guerra, Laura M Amendola, Marian J Gilmore, Bradley A Rolf, Michael O Dorschner, Jamilyn Zepp, Barbara B Biesecker,...> ;Genetics in Medicine. 2022 Nov 1
• 1 citations
  ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.
  Elizabeth G Liles, Michael C Leo, Amanda S Freed, Kathryn M Porter, Jamilyn M Zepp, Tia L Kauffman, Erin Keast, Carmit K McMullen, Inga Gruß, Barbara B Biesecker, Kris...> ;Genetics in Medicine. 2022 Aug 1
• 5 citations
  Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to acc...
  Laura M Amendola, Elizabeth Shuster, Michael C Leo, Michael O Dorschner, Bradley A Rolf, Brian H Shirts, Marian J Gilmore, Sonia Okuyama, Jamilyn M Zepp, Tia L Kauffma...> ;Genetics in Medicine. 2022 Jun 1
• Corrigendum to "Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on di...
  Kathleen F Mittendorf, Tia L Kauffman, Laura M Amendola, Katherine P Anderson, Barbara B Biesecker, Michael O Dorschner, Devan M Duenas, Donna J Eubanks, Heather Spenc...> ;Contemporary Clinical Trials. 2022 Mar 1
• 2 citations
  Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
  Trevor M. Sytsma, Dong-Hui Chen, Bradley Rolf, Michael O. Dorschner, Suman Jayadev, C. Dirk Keene, Jing Zhang, Thomas D. Bird, Caitlin S. Latimer> ;Neuropathology. 2021 Nov 9
• 18 citations
  Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations.
  Kathleen F. Mittendorf, Tia L. Kauffman, Laura M. Amendola, Katherine P. Anderson, Barbara B. Biesecker, Michael O. Dorschner, Devan M. Duenas, Donna Eubanks, Heather ...> ;Contemporary Clinical Trials. 2021 May 11
• 4 citations
  Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features.
  Pin-Yi Ko, Ian A. Glass, Suzanne Crandall, Avery H. Weiss, Michael O. Dorschner, John P. Kelly, James O. Phillips, Jonathan Lopez> ;Neuropediatrics. 2021 Jan 14
• 37 citations
  Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
  Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Greg M. Cooper, Michael O. Dorschner, Catherine Driscoll, Ann Katherine M. Foreman, Katie G...> ;American Journal of Human Genetics. 2020 Nov 5
• 39 citations
  Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicin...
  Ana Morales, Daniel D. Kinnamon, Elizabeth Jordan, Julia Platt, Matteo Vatta, Michael O. Dorschner, Carl A. Starkey, Jonathan O. Mead, Tomohiko Ai, Wylie Burke, Julie ...> ;Circulation. Genomic and Precision Medicine. 2020 Mar 11
• 2 citations
  Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting
  Adam S. Gordon, Elisabeth A. Rosenthal, David Carrell, Laura M. Amendola, Michael O. Dorschner, Aaron Scrol, Ian B. Stanaway, Shannon DeVange, James D. Ralston, Hana Z...> ;American Journal of Human Genetics. 2019 Sep 5
• 7 citations
  Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study
  Xin Niu, Laura M. Amendola, Ragan Hart, Caroline S. Bennette, Patrick J. Heagerty, Martha Horike-Pyne, Susan Brown Trinidad, Elisabeth A. Rosenthal, Bryan A. Comstock,...> ;Contemporary Clinical Trials. 2019 Aug 7
• 46 citations
  Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2019 Aug 1
• 11 citations
  Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.
  Laura M. Amendola, Ragan Hart, Robin L. Bennett, Martha Horike-Pyne, Michael O. Dorschner, Brian H. Shirts, Gail P. Jarvik> ;Journal of Genetic Counseling. 2019 Jul 17
• 15 citations
  α7 Nicotinic Acetylcholine Receptor Signaling Modulates Ovine Fetal Brain Astrocytes Transcriptome in Response to Endotoxin.
  Mingju Cao, James W. MacDonald, Hai L Liu, Molly Weaver, Marina Cortes, Lucien Daniel Durosier, Patrick Burns, Gilles Fecteau, André Desrochers, Jay Schulkin, Marta C....> ;Frontiers in Immunology. 2019 May 9
• 22 citations
  Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms
  Yigit Karasozen, Joshua W. Osbun, Carolina Parada, Tina Busald, Philip D. Tatman, Luis F. Gonzalez-Cuyar, Christopher J. Hale, Diana Alcantara, Mark O'Driscoll, Willia...> ;American Journal of Human Genetics. 2019 May 2
• 22 citations
  Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
  Jacquelyn E. Braggin, Stephanie A. Bucks, Meredith M. Course, Carole L. Smith, Bryce L. Sopher, Leah Osnis, Kiel Shuey, Kimiko Domoto-Reilly, Christina Caso, Chizuru K...> ;Annals of Clinical and Translational Neurology. 2019 Mar 10
• 17 citations
  CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
  Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Débora Rossi Precioso, David Sillence, Fuki M. Hisama, Michael O. Dorschner, ...> ;Molecular Genetics & Genomic Medicine. 2018 Nov 1
• Rare loss of function variants in candidate genes and risk of colorectal cancer.
  Rosenthal, E. A.,Shirts, B. H.,Amendola, L. M.,Horike-Pyne, M.,Robertson, P. D.,Hisama, F. M.,Bennett, R. L.,Dorschner, M. O.,Nickerson, D. A.,Stanaway, I. B.,Nassir, ...> ;Hum. Genet.. 2018 Sep 30
• 20 citations
  Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
  Rashesh Sanghvi, Christian J. Buhay, Bradford C. Powell, Ellen A. Tsai, Michael O. Dorschner, Celine S. Hong, Matthew S. Lebo, Ariella Sasson, David S. Hanna, Sean McG...> ;Genetics in Medicine. 2018 Aug 1
• 19 citations
  Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
  Elizabeth E. Blue, Joshua C. Bis, Michael O. Dorschner, Debby W. Tsuang, Sandra Barral, Gary W. Beecham, Jennifer E. Below, William S. Bush, Mariusz Butkiewicz, Carlos...> ;Dementia and Geriatric Cognitive Disorders. 2018 Feb 27
• 2 citations
  An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features
  Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O. Dorschner, Wendy H. Raskind, Thomas D. Bird> ;Muscle & Nerve. 2018 May 1
• 74 citations
  Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
  Liza L Cox, Timothy C. Cox, Lina M. Moreno Uribe, Ying Zhu, Chika T. Richter, Nichole Nidey, Jennifer Standley, Mei Deng, Elizabeth Blue, Jessica X. Chong, Yueqin Yang...> ;American Journal of Human Genetics. 2018 Jun 7
• 27 citations
  Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
  Sumit Punj, Yassmine Akkari, Jennifer H. Huang, Fei Yang, Allison L. Creason, Christine Pak, Amiee Potter, Michael O. Dorschner, Deborah A. Nickerson, Peggy D. Roberts...> ;American Journal of Human Genetics. 2018 Jun 7
• 9 citations
  LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
  Nicole K. Andeen, Jennifer Schleit, Christopher D. Blosser, Michael O. Dorschner, Fuki M. Hisama, Kelly D. Smith> ;American Journal of Kidney Diseases. 2017 Dec 12
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Journal Articles

• Rare Loss of Function Variants in Candidate Genes and Risk of Colorectal Cancer  
  Michael O Dorschner, Gail P Jarvik, Brian H Shirts, Deborah A Nickerson, Fuki M Hisama, Laura M Amendola, Robin L Bennett, Human Genetics