Shantel Weinsheimer, PhD

Assistant Adjunct Professor
Biography: 

Dr. Weinsheimer’s research interests include human genetics studies of cerebrovascular malformations and neuropsychiatric disorders. 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

Publications: 
Fox CK, Nelson J, McCulloch CE, Weinsheimer S, Pawlikowska L, Hart B, Mabray M, Zafar A, Morrison L, Zabramski JM, Akers A, Kim H. Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations. Neurology. 2021 Aug 13.
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. Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype. J Neurosurg. 2021 Jul 02; 1-8.
Pan P, Weinsheimer S, Cooke D, Winkler E, Abla A, Kim H, Su H. Review of treatment and therapeutic targets in brain arteriovenous malformation. J Cereb Blood Flow Metab. 2021 Jun 23; 271678X211026771.
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 MP11: Circulating Plasma Biomarkers Associated With Brain Arteriovenous Malformations. Stroke. 2021 Mar 1; 52(Suppl_1).
Shantel M Weinsheimer, Matthew D Alexander, Jeffrey Nelson, Daniel L Cooke, Steven W Hetts, Charles E McCulloch, Helen Kim, Nerissa U Ko. Abstract P42: Genetic Variants Associated With Vasospasm Following Aneurysmal Subarachnoid Hemorrhage. Stroke. 2021 Mar 1; 52(Suppl_1).
Yan KL, Ko NU, Hetts SW, Weinsheimer S, Abla AA, Lawton MT, Kim H. Maternal and Fetal Outcomes in Women with Brain Arteriovenous Malformation Rupture during Pregnancy. Cerebrovasc Dis. 2021; 50(3):296-302.
Xabier Calle Sanchez, Thomas Werge, Andres Ingason, Shantel Weinsheimer. 23 SEX CHROMOSOME ANEUPLOIDIES ARE UNDERDIAGNOSED AND INCREASE RISK FOR MENTAL DISORDERS. European Neuropsychopharmacology. 2019 Oct 1; 29:s71-s72.
Kaarina Kowalec, Lu Yi, Ole Kristian Drange, Shantel Weinsheimer, Martin Tesli, Lasse Folkersen, Thomas Werge, Ole A. Andreassen, Ted Reichborn-Kjennerud, Patrick Sullivan. 47 TRYGGVE2: PREDICTING POOR OUTCOMES IN SCHIZOPHRENIA USING REGISTER GENOMICS IN SWEDEN. European Neuropsychopharmacology. 2019 Oct 1; 29:s85-s86.
Yi Lu, Kaarina Kowalec, Ole Kristian Drange, Martin Tesli, Shantel Weinsheimer, Lasse Folkersen, Thomas Werge, Ole Andreassen, Ted Reichborn-Kjennerud, Patrick Sullivan. M33 TRYGGVE2: PREDICTING POOR OUTCOMES IN MAJOR DEPRESSION USING REGISTER GENOMICS IN SWEDEN. European Neuropsychopharmacology. 2019 Oct 1; 29:s183-s184.
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. Pedersen, Thomas Werge. 25 GENOME-WIDE METHYLOMIC ANALYSIS OF NEONATAL BLOOD FROM DANISH TWINS DISCORDANT FOR MENTAL ILLNESS. European Neuropsychopharmacology. 2019 Jan 1; 29:s794-s795.
Christine Hansen, Alexander Drong, Anna Starnawska, Jonas Bybjerg-Grauholm, Alfonso Buil, Shantel Weinsheimer, Marie Bækvad-Hansen, David Hougaard, Cecilia Lindgren, Thomas Werge. 26 ESTIMATED DNA METHYLATION GESTATIONAL AGE IN NEWBORN MONOZYGOTIC TWINS ASSOCIATE WITH LATER PSYCHIATRIC DISORDERS BETWEEN CON/DISCORDANT PAIRS. European Neuropsychopharmacology. 2019 Jan 1; 29:s795.
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. Pedersen, Mette Nyegaard, Thomas Werge, Shantel Weinsheimer. SU56 DIFFERENTIAL DNA METHYLATION AT BIRTH ASSOCIATED WITH MENTAL DISORDER IN INDIVIDUALS WITH 22Q11.2 DELETION SYNDROME. European Neuropsychopharmacology. 2019 Jan 1; 29:s918.
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, Børglum A, Nordentoft M, Hougaard DM, Mortensen PB, Geschwind DH, Pedersen C, Thompson WK, Werge T. 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. Lancet Psychiatry. 2018 07; 5(7):573-580.
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, Buttenschøn HN, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen JH, Clarke TK, Coleman JIR, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford GE, Crowley CA, Dashti HS, Davies G, Deary IJ, Degenhardt F, Derks EM, Direk N, Dolan CV, Dunn EC, Eley TC, Eriksson N, Escott-Price V, Kiadeh FHF, Finucane HK, Forstner AJ, Frank J, Gaspar HA, Gill M, Giusti-Rodríguez P, Goes FS, Gordon SD, Grove J, Hall LS, Hannon E, Hansen CS, Hansen TF, Herms S, Hickie IB, Hoffmann P, Homuth G, Horn C, Hottenga JJ, Hougaard DM, Hu M, Hyde CL, Ising M, Jansen R, Jin F, Jorgenson E, Knowles JA, Kohane IS, Kraft J, Kretzschmar WW, Krogh J, Kutalik Z, Lane JM, Li Y, Li Y, Lind PA, Liu X, Lu L, MacIntyre DJ, MacKinnon DF, Maier RM, Maier W, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland SE, Mehta D, Middeldorp CM, Mihailov E, Milaneschi Y, Milani L, Mill J, Mondimore FM, Montgomery GW, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard MG, Nyholt DR, O'Reilly PF, Oskarsson H, Owen MJ, Painter JN, Pedersen CB, Pedersen MG, Peterson RE, Pettersson E, Peyrot WJ, Pistis G, Posthuma D, Purcell SM, Quiroz JA, Qvist P, Rice JP, Riley BP, Rivera M, Saeed Mirza S, Saxena R, Schoevers R, Schulte EC, Shen L, Shi J, Shyn SI, Sigurdsson E, Sinnamon GBC, Smit JH, Smith DJ, Stefansson H, Steinberg S, Stockmeier CA, Streit F, Strohmaier J, Tansey KE, Teismann H, Teumer A, Thompson W, Thomson PA, Thorgeirsson TE, Tian C, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden AG, Umbricht D, Van der Auwera S, van Hemert AM, Viktorin A, Visscher PM, Wang Y, Webb BT, Weinsheimer SM, Wellmann J, Willemsen G, Witt SH, Wu Y, Xi HS, Yang J, Zhang F, eQTLGen , 23andMe , Arolt V, Baune BT, Berger K, Boomsma DI, Cichon S, Dannlowski U, de Geus ECJ, DePaulo JR, Domenici E, Domschke K, Esko T, Grabe HJ, Hamilton SP, Hayward C, Heath AC, Hinds DA, Kendler KS, Kloiber S, Lewis G, Li QS, Lucae S, Madden PFA, Magnusson PK, Martin NG, McIntosh AM, Metspalu A, Mors O, Mortensen PB, Müller-Myhsok B, Nordentoft M, Nöthen MM, O'Donovan MC, Paciga SA, Pedersen NL, Penninx BWJH, Perlis RH, Porteous DJ, Potash JB, Preisig M, Rietschel M, Schaefer C, Schulze TG, Smoller JW, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman MM, Werge T, Winslow AR, Lewis CM, Levinson DF, Breen G, Børglum AD, Sullivan PF, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium . Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat Genet. 2018 05; 50(5):668-681.
Jeffrey Nelson, Nasrine Bendjilali, Shantel M Weinsheimer, Charles E McCulloch, Nerissa U Ko, Jonathan G Zaroff, Michael T Lawton, Ludmila Pawlikowska, Helen Kim. Abstract WP426: Does Intracerebral Hemorrhage in Brain Arteriovenous Malformation Share Genetic Risk Factors With Primary Intracerebral Hemorrhage?. Stroke. 2018 Jan 22; 49(Suppl_1).
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. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome. Transl Psychiatry. 2017 08 29; 7(8):e1221.
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 JL, Dalach P, Doyle LW, Loke YJ, Baccarelli AA, Just AC, Wright RO, Téllez-Rojo MM, Svensson K, Trevisi L, Kennedy EM, Binder EB, Iurato S, Czamara D, Räikkönen K, Lahti JM, Pesonen AK, Kajantie E, Villa PM, Laivuori H, Hämäläinen E, Park HJ, Bailey LB, Parets SE, Kilaru V, Menon R, Horvath S, Bush NR, LeWinn KZ, Tylavsky FA, Conneely KN, Smith AK. An epigenetic clock for gestational age at birth based on blood methylation data. Genome Biol. 2016 10 07; 17(1):206.
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, Young WL, Pawlikowska L, Klijn CJ, Kim H, GEN-AVM Consortium . Genome-wide association study of sporadic brain arteriovenous malformations. J Neurol Neurosurg Psychiatry. 2016 09; 87(9):916-23.
Tromp G, Weinsheimer S, Ronkainen A, Kuivaniemi H. Molecular basis and genetic predisposition to intracranial aneurysm. Ann Med. 2014 Dec; 46(8):597-606.
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. Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain. J Neurol Neurosurg Psychiatry. 2015 May; 86(5):524-9.
Bendjilali N, Nelson J, Weinsheimer S, Sidney S, Zaroff JG, Hetts SW, Segal M, Pawlikowska L, McCulloch CE, Young WL, Kim H. Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms. J Neurol Neurosurg Psychiatry. 2014 Nov; 85(11):1280-3.
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. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. PLoS One. 2013; 8(10):e71434.
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. G Protein-Coupled Receptor 124 (GPR124) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation. Transl Stroke Res. 2012 Dec; 3(4):418-27.
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. Abstract 3666: Common Polymorphisms in Familial Vascular Malformation Genes do not Show Association with Sporadic Brain Arteriovenous Malformation. Stroke. 2012 Feb 1; 43(suppl_1).
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. Gene expression profiling of blood in brain arteriovenous malformation patients. Transl Stroke Res. 2011 Dec 01; 2(4):575-87.
Mikhak B, Weinsheimer S, Pawlikowska L, Poon A, Kwok PY, Lawton MT, Chen Y, Zaroff JG, Sidney S, McCulloch CE, Young WL, Kim H. Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations. Cerebrovasc Dis. 2011; 31(4):338-45.
Kim H, Su H, Weinsheimer S, Pawlikowska L, Young WL. Brain arteriovenous malformation pathogenesis: a response-to-injury paradigm. Acta Neurochir Suppl. 2011; 111:83-92.
Weinsheimer S, Kim H, Pawlikowska L, Chen Y, Lawton MT, Sidney S, Kwok PY, McCulloch CE, Young WL. EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations. Circ Cardiovasc Genet. 2009 Oct; 2(5):476-82.
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, Kostulas K, Gottsäter A, Flex A, Stefansson H, Hansen T, Andersen G, Weinsheimer S, Borch-Johnsen K, Jorgensen T, Shah SH, Quyyumi AA, Granger CB, Reilly MP, Austin H, Levey AI, Vaccarino V, Palsdottir E, Walters GB, Jonsdottir T, Snorradottir S, Magnusdottir D, Gudmundsson G, Ferrell RE, Sveinbjornsdottir S, Hernesniemi J, Niemelä M, Limet R, Andersen K, Sigurdsson G, Benediktsson R, Verhoeven EL, Teijink JA, Grobbee DE, Rader DJ, Collier DA, Pedersen O, Pola R, Hillert J, Lindblad B, Valdimarsson EM, Magnadottir HB, Wijmenga C, Tromp G, Baas AF, Ruigrok YM, van Rij AM, Kuivaniemi H, Powell JT, Matthiasson SE, Gulcher JR, Thorgeirsson G, Kong A, Thorsteinsdottir U, Stefansson K. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008 Feb; 40(2):217-24.
Anagli J, Abounit K, Stemmer P, Han Y, Allred L, Weinsheimer S, Movsisyan A, Seyfried D. Effects of cathepsins B and L inhibition on postischemic protein alterations in the brain. Biochem Biophys Res Commun. 2008 Feb 01; 366(1):86-91.
Weinsheimer S, Lenk GM, van der Voet M, Land S, Ronkainen A, Alafuzoff I, Kuivaniemi H, Tromp G. Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm. Physiol Genomics. 2007 Dec 19; 32(1):45-57.
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. Association of kallikrein gene polymorphisms with intracranial aneurysms. Stroke. 2007 Oct; 38(10):2670-6.
Lenk GM, Tromp G, Weinsheimer S, Gatalica Z, Berguer R, Kuivaniemi H. Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms. BMC Genomics. 2007 Jul 16; 8:237.
Fayz B, Moldenhauer JS, Wang D, Zhao C, Yao B, Liu D, Weinsheimer S, Gardner L, Johnson A, Womble DD, Krawetz SA. LARALink: a web application for cytogenetic linkage analysis. Clin Genet. 2005 Apr; 67(4):314-21.
Betts R, Weinsheimer S, Blouse GE, Anagli J. Structural determinants of the calpain inhibitory activity of calpastatin peptide B27-WT. J Biol Chem. 2003 Mar 07; 278(10):7800-9.
Seyfried DM, Veyna R, Han Y, Li K, Tang N, Betts RL, Weinsheimer S, Chopp M, Anagli J. A selective cysteine protease inhibitor is non-toxic and cerebroprotective in rats undergoing transient middle cerebral artery ischemia. Brain Res. 2001 May 18; 901(1-2):94-101.