Selected Publications

Norton BY, Liu J, Lewis SA, Magee H, Kruer TN, Dinh R, Bakhtiari S, Nordlie SH, Shetty S, Heim J, Nishiyama Y, Arango J, Johnson D, Seabrooke L, Shub M, Rosenberg R, Shusterman M, Wisniewski S, Cooper B, Rothwell E, Fahey MC, Shrader MW, Lennon N, Oleszek J, Pierce W, Fleming H, Belthur M, Tinto J, Noritz G, Glader L, Steffan K, Walker W, Grenard D, Aravamuthan B, Bjornson K, Joseph M, Gross P, Kruer MC; : Cerebral Palsy Research Network. Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies AJOB Empir Bioeth Page: 1-12, Jun 2025 Notes: online ahead of print.

Heim,J: Clinical Improvement with lamotrigine in patient with SGCE-associated myoclonus dystonia syndrome International Symposium on Pediatric Movement Disorders Feb 2024 Notes: Barcelona, Spain, Platform video presentation.

Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper van der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer, : TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain 147(1): 311–324, Jan 2024.

Lewis SA, Shetty S, Gamble S, Heim J, Zhao N, Stitt G, Pankratz M, Mangum T, Marku I, Rosenberg RB, Wilfong AA, Fahey MC, Kim S, Myers SJ, Appavu B, Kruer MC: Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation. Orphanet J Rare Dis 18(1): 225, Aug 2023.

Heim J, Vemuri A, Salih M, Kruer MC; : Clinical Child Neurology, Movement Disorders in Childhood. Elsevier 3, Jul 2022.

Sussman BL, Wyckoff SN, Heim J, Wilfong AA, Adelson PD, Kruer MC, Gonzalez MJ, Boerwinkle VL. : Resting State Functional MRI Effective Connectivity in Movement Disorders Helpful? A Focused Review Across Lifespan and Disease. Front Neurol. Page: 13:847834, Apr 2022.

Sotirios Keros MD, PhD, Jennifer Heim MD, Wejdan Hakami MD, Efrat Zohar-Dayan MD, Bruria Ben-Zeev MD, Zach Grinspan MD, MS, Michael C. Kruer MD, Andrea L. Meredith PhD: Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant; . 11 December 2021. Mov Disord Clin Pract 9(2): 229-235, Dec 2021.

Sotirios Keros MD, PhD, Jennifer Heim MD, Wejdan Hakami MD, Efrat Zohar-Dayan MD, Bruria Ben-Zeev MD, Zach Grinspan MD, MS, Michael C. Kruer MD, Andrea L. Meredith PhD: Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant. Mov Disord Clin Pract. 9(2): 229-235, Dec 2021.

Sara Lewis, Somayeh Bakhtiari, Jennifer Heim, Patricia Cornejo, James Liu, Aris Huang, Andrew Musmacker, Sheng Chih Jin, Kaya Bilguvar, Sergio R. Padilla-Lopez, Michael C. Kruer: Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability Neurol Genet 7(4), Aug 2021.

J Neurol: Opsoclonus-myoclonus-ataxia syndrome in children. Bhatia P, Heim J, Cornejo P, Kane L, Santiago J, Kruer MC. 269(2): 750-757, Mar 2021.