Shantel Weinsheimer, PhD
Assistant Professor
Anesthesia
School of Medicine

Her group’s main focus is the identification of clinical genomics tools (e.g., genetic, epigenetic, transcriptomic, or microbiome biomarkers) that can aid early detection, stratify patient subtypes and result in improved clinical management for individuals with brain vascular malformations including brain AVM, aneurysm, Cerebral Cavernous Malformation and Hereditary Hemorrhagic Telangiectasia. Current approaches include genome-wide association studies, screening for rare variants, investigation of somatic variation, and blood expression profiling to identify molecular markers of poor outcome (e.g. hemorrhage).

Institute for Human Genetics - Faculty Member Center for Cerebrovascular Research - Faculty Member

• Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load.
  Journal of psychiatric research 2024 Schmock H, Stevenson MP, Hanebaum S, Vangkilde A, Rosengren A, Weinsheimer SM, Skovby F, Olesen C, Ullum H, Baaré WFC, Siebner HR, Didriksen M, Werge T, Olsen L, Jepsen JRM
• Mild Hypoxia Accelerates Cerebral Cavernous Malformation Disease Through CX3CR1-CX3CL1 Signaling.
  Arteriosclerosis, thrombosis, and vascular biology 2024 Frias-Anaya E, Gallego-Gutierrez H, Gongol B, Weinsheimer S, Lai CC, Orecchioni M, Sriram A, Bui CM, Nelsen B, Hale P, Pham A, Shenkar R, DeBiasse D, Lightle R, Girard R, Li Y, Srinath A, Daneman R, …
• Abstract 116: Increased Collagen I/Collagen III Ratio is Associated With Hemorrhage in Brain Arteriovenous Malformations in Human and Mouse.
  Stroke 2024 Zahra Shabani nabikandi, Joana Schurger, Alka Yadav, Rich Liang, Kelly Press, Shantel Weinsheimer, Annika Schmidt, Helen Kim, Hua Su
• Abstract TMP2: Longitudinal Risk of Seizures in Patients With Brain Arteriovenous Malformations.
  Stroke 2024 Samyami S Chowdhury, Jeffrey Nelson, Shantel Weinsheimer, Jonas Schollenberger, Heather J Fullerton, Christine K Fox, Helen Kim
• Abstract TP6: Identification of Circulating Epigenetic Biomarkers for Seizure in Brain Arteriovenous Malformation by Methylome Profiling.
  Stroke 2024 Peter Park, Jeffrey Nelson, Christine K Fox, Adam Numis, Nerissa Ko, Ethan Winkler, Charles McCulloch, Helen Kim, Shantel Weinsheimer
• Increased Collagen I/Collagen III Ratio Is Associated with Hemorrhage in Brain Arteriovenous Malformations in Human and Mouse.
  Cells 2024 Shabani Z, Schuerger J, Zhu X, Tang C, Ma L, Yadav A, Liang R, Press K, Weinsheimer S, Schmidt A, Wang C, Sekhar A, Nelson J, Kim H, Su H
• 385 A Cell Resolution Atlas of the Human Cerebrovasculature Reveals Angiogenic and Inflammatory Cell Programs in Arteriovenous Malformations.
  Neurosurgery 2023 Ethan A. Winkler, Chang Kim, Jayden Ross, Joseph Garcia, Eugene Gil, Irene Oh, Lindsay Chen, David Wu, Joshua Catapano, Kunal P. Raygor, Kazim Narsinh, Helen Kim, Shantel Weinsheimer, Daniel Cooke, …
• Abstract 52: Prevalence Of Somatic Activating Kras Mutations In Pediatric And Adult Sporadic Brain Arteriovenous Malformations.
  Stroke 2023 Ethan A Winkler, Joseph Garcia, Cynthia Tsang, Jeffrey Nelson, Charles McCulloch, Shantel Weinsheimer, Christine K Fox, Heather Fullerton, Nerissa Ko, Hua Su, Tomasz Nowakowski, Daniel L Cooke, Steven…
• Abstract TMP17: Polymorphisms In DNA Methylated Genes And Risk Of Intracranial Hemorrhage In Brain Arteriovenous Malformation Patients.
  Stroke 2023 Thinzar Zaw, Shantel Weinsheimer, Jeffrey Nelson, Charles McCulloch, Jonathan Zaroff, Helen Kim
• Abstract TP157: Interleukin Plasma Levels And Risk Of Hemorrhage In Pediatric Brain Arteriovenous Malformation Patients.
  Stroke 2023 Shweta A Chawla, Shantel Weinsheimer, Jeffrey Nelson, Charles McCulloch, Adib Abla, Nalin Gupta, Daniel L Cooke, Steven Hetts, David Saloner, Yi Li, Christine K Fox, Heather J Fullerton, Helen Kim
• Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation.
  Journal of the American Heart Association 2023 Weinsheimer S, Nelson J, Abla AA, Ko NU, Tsang C, Okoye O, Zabramski JM, Akers A, Zafar A, Mabray MC, Hart BL, Morrison L, McCulloch CE, Kim H, Brain Vascular Malformation Consortium Cerebral …
• A single-cell atlas of the normal and malformed human brain vasculature.
  Science (New York, N.Y.) 2022 Winkler EA, Kim CN, Ross JM, Garcia JH, Gil E, Oh I, Chen LQ, Wu D, Catapano JS, Raygor K, Narsinh K, Kim H, Weinsheimer S, Cooke DL, Walcott BP, Lawton MT, Gupta N, Zlokovic BV, Chang EF, Abla AA, …
• Endoluminal Biopsy for Molecular Profiling of Human Brain Vascular Malformations.
  Neurology 2022 Winkler E, Wu D, Gil E, McCoy D, Narsinh K, Sun Z, Mueller K, Ross J, Kim H, Weinsheimer S, Berger M, Nowakowski T, Lim D, Abla A, Cooke D
• Abstract 109: Biological Pathways Enriched For Genes Associated With Lesion Burden In Cerebral Cavernous Malformation.
  Stroke 2022 Aditya Sriram, Shantel Weinsheimer, Jeffrey Nelson, Marc Mabray, Joseph M Zabramski, Amy Akers, Blaine Hart, Leslie Morrison, Charles E McCulloch, Helen Kim
• Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations.
  Neurology 2021 Fox CK, Nelson J, McCulloch CE, Weinsheimer S, Pawlikowska L, Hart B, Mabray MC, Zafar A, Morrison L, Zabramski JM, Akers A, Kim H
• Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia.
  Orphanet journal of rare diseases 2021 Thompson KP, Nelson J, Kim H, Weinsheimer SM, Marchuk DA, Lawton MT, Krings T, Faughnan ME, Brain Vascular Malformation Consortium HHT Investigator Group
• Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.
  Molecular genetics & genomic medicine 2021 Choksi F, Weinsheimer S, Nelson J, Pawlikowska L, Fox CK, Zafar A, Mabray MC, Zabramski J, Akers A, Hart BL, Morrison L, McCulloch CE, Kim H
• Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations.
  Orphanet journal of rare diseases 2021 Wetzel-Strong SE, Weinsheimer S, Nelson J, Pawlikowska L, Clark D, Starr MD, Liu Y, Kim H, Faughnan ME, Nixon AB, Marchuk DA
• Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.
  Journal of neurosurgery 2021 Gao S, Nelson J, Weinsheimer S, Winkler EA, Rutledge C, Abla AA, Gupta N, Shieh JT, Cooke DL, Hetts SW, Tihan T, Hess CP, Ko N, Walcott BP, McCulloch CE, Lawton MT, Su H, Pawlikowska L, Kim H
• Review of treatment and therapeutic targets in brain arteriovenous malformation.
  Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2021 Pan P, Weinsheimer S, Cooke D, Winkler E, Abla A, Kim H, Su H
• Abstract MP11: Circulating Plasma Biomarkers Associated With Brain Arteriovenous Malformations.
  Stroke 2021 Sarah E Wetzel-Strong, Shantel M Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Charles E McCulloch, Helen Kim, Marie E Faughnan, Douglas A Marchuk
• Abstract P42: Genetic Variants Associated With Vasospasm Following Aneurysmal Subarachnoid Hemorrhage.
  Stroke 2021 Shantel M Weinsheimer, Matthew D Alexander, Jeffrey Nelson, Daniel L Cooke, Steven W Hetts, Charles E McCulloch, Helen Kim, Nerissa U Ko
• Maternal and Fetal Outcomes in Women with Brain Arteriovenous Malformation Rupture during Pregnancy.
  Cerebrovascular diseases (Basel, Switzerland) 2021 Yan KL, Ko NU, Hetts SW, Weinsheimer S, Abla AA, Lawton MT, Kim H
• 23 SEX CHROMOSOME ANEUPLOIDIES ARE UNDERDIAGNOSED AND INCREASE RISK FOR MENTAL DISORDERS.
  European Neuropsychopharmacology 2019 Xabier Calle Sanchez, Thomas Werge, Andres Ingason, Shantel Weinsheimer
• 47 TRYGGVE2: PREDICTING POOR OUTCOMES IN SCHIZOPHRENIA USING REGISTER GENOMICS IN SWEDEN.
  European Neuropsychopharmacology 2019 Kaarina Kowalec, Lu Yi, Ole Kristian Drange, Shantel Weinsheimer, Martin Tesli, Lasse Folkersen, Thomas Werge, Ole A. Andreassen, Ted Reichborn-Kjennerud, Patrick Sullivan
• M33 TRYGGVE2: PREDICTING POOR OUTCOMES IN MAJOR DEPRESSION USING REGISTER GENOMICS IN SWEDEN.
  European Neuropsychopharmacology 2019 Yi Lu, Kaarina Kowalec, Ole Kristian Drange, Martin Tesli, Shantel Weinsheimer, Lasse Folkersen, Thomas Werge, Ole Andreassen, Ted Reichborn-Kjennerud, Patrick Sullivan
• 25 GENOME-WIDE METHYLOMIC ANALYSIS OF NEONATAL BLOOD FROM DANISH TWINS DISCORDANT FOR MENTAL ILLNESS.
  European Neuropsychopharmacology 2019 Shantel Weinsheimer, Anna Starnawska, Christine Hansen, Alfonso Buil, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, David Hougaard, Thomas Sparsø, Marcelo Bertalan, Preben Bo Mortensen, Carsten B. …
• 26 ESTIMATED DNA METHYLATION GESTATIONAL AGE IN NEWBORN MONOZYGOTIC TWINS ASSOCIATE WITH LATER PSYCHIATRIC DISORDERS BETWEEN CON/DISCORDANT PAIRS.
  European Neuropsychopharmacology 2019 Christine Hansen, Alexander Drong, Anna Starnawska, Jonas Bybjerg-Grauholm, Alfonso Buil, Shantel Weinsheimer, Marie Bækvad-Hansen, David Hougaard, Cecilia Lindgren, Thomas Werge
• SU56 DIFFERENTIAL DNA METHYLATION AT BIRTH ASSOCIATED WITH MENTAL DISORDER IN INDIVIDUALS WITH 22Q11.2 DELETION SYNDROME.
  European Neuropsychopharmacology 2019 Anna Starnawska, Christine Hansen, Thomas Sparsø, Wiktor Mazin, Line Olsen, Marcelo Bertalan, Alfonso Buil, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, David Hougaard, Preben Bo Mortensen, Carsten B.…
• Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.
  The lancet. Psychiatry 2018 Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, Sanchez XC, Hoeffding LK, Schmock H, Baekvad-Hansen M, Bybjerg-Grauholm J, Daly MJ, Neale BM, Pedersen MG, Agerbo E, Mors O, …
• Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
  Nature genetics 2018 Wray NR, Ripke S, Mattheisen M, Trzaskowski M, Byrne EM, Abdellaoui A, Adams MJ, Agerbo E, Air TM, Andlauer TMF, Bacanu SA, Bækvad-Hansen M, Beekman AFT, Bigdeli TB, Binder EB, Blackwood DRH, Bryois J…
• Abstract WP426: Does Intracerebral Hemorrhage in Brain Arteriovenous Malformation Share Genetic Risk Factors With Primary Intracerebral Hemorrhage?.
  Stroke 2018 Jeffrey Nelson, Nasrine Bendjilali, Shantel M Weinsheimer, Charles E McCulloch, Nerissa U Ko, Jonathan G Zaroff, Michael T Lawton, Ludmila Pawlikowska, Helen Kim
• Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome.
  Translational psychiatry 2017 Starnawska A, Hansen CS, Sparsø T, Mazin W, Olsen L, Bertalan M, Buil A, Bybjerg-Grauholm J, Bækvad-Hansen M, Hougaard DM, Mortensen PB, Pedersen CB, Nyegaard M, Werge T, Weinsheimer S
• An epigenetic clock for gestational age at birth based on blood methylation data.
  Genome biology 2016 Knight AK, Craig JM, Theda C, Bækvad-Hansen M, Bybjerg-Grauholm J, Hansen CS, Hollegaard MV, Hougaard DM, Mortensen PB, Weinsheimer SM, Werge TM, Brennan PA, Cubells JF, Newport DJ, Stowe ZN, Cheong …
• Genome-wide association study of sporadic brain arteriovenous malformations.
  Journal of neurology, neurosurgery, and psychiatry 2016 Weinsheimer S, Bendjilali N, Nelson J, Guo DE, Zaroff JG, Sidney S, McCulloch CE, Al-Shahi Salman R, Berg JN, Koeleman BP, Simon M, Bostroem A, Fontanella M, Sturiale CL, Pola R, Puca A, Lawton MT, …
• Molecular basis and genetic predisposition to intracranial aneurysm.
  Annals of medicine 2014 Tromp G, Weinsheimer S, Ronkainen A, Kuivaniemi H
• Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain.
  Journal of neurology, neurosurgery, and psychiatry 2014 Kremer PH, Koeleman BP, Pawlikowska L, Weinsheimer S, Bendjilali N, Sidney S, Zaroff JG, Rinkel GJ, van den Berg LH, Ruigrok YM, de Kort GA, Veldink JH, Kim H, Klijn CJ
• Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms.
  Journal of neurology, neurosurgery, and psychiatry 2014 Bendjilali N, Nelson J, Weinsheimer S, Sidney S, Zaroff JG, Hetts SW, Segal M, Pawlikowska L, McCulloch CE, Young WL, Kim H
• A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.
  PloS one 2013 Bendjilali N, Kim H, Weinsheimer S, Guo DE, Kwok PY, Zaroff JG, Sidney S, Lawton MT, McCulloch CE, Koeleman BP, Klijn CJ, Young WL, Pawlikowska L
• Abstract TMP30: Genetic Variants on 9p21.3 are Associated with Brain Arteriovenous Malformations with Associated Arterial Aneurysms.
  Stroke 2013 Nasrine Bendjilali, Jeffrey Nelson, Shantel Weinsheimer, Stephen Sidney, Jonathan G Zaroff, Mark Segal, Ludmila Pawlikowska, Charles E McCulloch, William L Young, Helen Kim
• G Protein-Coupled Receptor 124 (GPR124) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation.
  Translational stroke research 2012 Weinsheimer S, Brettman AD, Pawlikowska L, Wu DC, Mancuso MR, Kuhnert F, Lawton MT, Sidney S, Zaroff JG, McCulloch CE, Young WL, Kuo C, Kim H
• Abstract 3666: Common Polymorphisms in Familial Vascular Malformation Genes do not Show Association with Sporadic Brain Arteriovenous Malformation.
  Stroke 2012 Shantel Weinsheimer, Nasrine Bendjilali, Ludmila Pawlikowska, Pui-Yan Kwok, Michael T Lawton, Jonathan G Zaroff, Stephen Sidney, Charles E McCulloch, Helen Kim, William L Young
• Gene expression profiling of blood in brain arteriovenous malformation patients.
  Translational stroke research 2011 Weinsheimer SM, Xu H, Achrol AS, Stamova B, McCulloch CE, Pawlikowska L, Tian Y, Ko NU, Lawton MT, Steinberg GK, Chang SD, Jickling G, Ander BP, Kim H, Sharp FR, Young WL
• Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.
  Cerebrovascular diseases (Basel, Switzerland) 2011 Mikhak B, Weinsheimer S, Pawlikowska L, Poon A, Kwok PY, Lawton MT, Chen Y, Zaroff JG, Sidney S, McCulloch CE, Young WL, Kim H
• Brain arteriovenous malformation pathogenesis: a response-to-injury paradigm.
  Acta neurochirurgica. Supplement 2011 Kim H, Su H, Weinsheimer S, Pawlikowska L, Young WL
• EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.
  Circulation. Cardiovascular genetics 2009 Weinsheimer S, Kim H, Pawlikowska L, Chen Y, Lawton MT, Sidney S, Kwok PY, McCulloch CE, Young WL
• The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
  Nature genetics 2008 Helgadottir A, Thorleifsson G, Magnusson KP, Grétarsdottir S, Steinthorsdottir V, Manolescu A, Jones GT, Rinkel GJ, Blankensteijn JD, Ronkainen A, Jääskeläinen JE, Kyo Y, Lenk GM, Sakalihasan N, …
• Effects of cathepsins B and L inhibition on postischemic protein alterations in the brain.
  Biochemical and biophysical research communications 2007 Anagli J, Abounit K, Stemmer P, Han Y, Allred L, Weinsheimer S, Movsisyan A, Seyfried D
• Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm.
  Physiological genomics 2007 Weinsheimer S, Lenk GM, van der Voet M, Land S, Ronkainen A, Alafuzoff I, Kuivaniemi H, Tromp G
• Association of kallikrein gene polymorphisms with intracranial aneurysms.
  Stroke 2007 Weinsheimer S, Goddard KA, Parrado AR, Lu Q, Sinha M, Lebedeva ER, Ronkainen A, Niemelä M, Khusnutdinova EK, Khusainova RI, Helin K, Jääskeläinen JE, Sakovich VP, Land S, Kuivaniemi H, Tromp G
• Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms.
  BMC genomics 2007 Lenk GM, Tromp G, Weinsheimer S, Gatalica Z, Berguer R, Kuivaniemi H
• LARALink: a web application for cytogenetic linkage analysis.
  Clinical genetics 2005 Fayz B, Moldenhauer JS, Wang D, Zhao C, Yao B, Liu D, Weinsheimer S, Gardner L, Johnson A, Womble DD, Krawetz SA
• Structural determinants of the calpain inhibitory activity of calpastatin peptide B27-WT.
  The Journal of biological chemistry 2002 Betts R, Weinsheimer S, Blouse GE, Anagli J
• A selective cysteine protease inhibitor is non-toxic and cerebroprotective in rats undergoing transient middle cerebral artery ischemia.
  Brain research 2001 Seyfried DM, Veyna R, Han Y, Li K, Tang N, Betts RL, Weinsheimer S, Chopp M, Anagli J