References: 
Bizkarguenaga, M., L. Gomez-Santos, J. F. Madrid, F. J. Sáez, and E. Alonso. 2019. “Increase of Germ Cell Nuclear Factor Expression in Globozoospermic Gopc-/- Knockout Mice.” Andrology 7 (3): 319–28.
Ceholski, Delaine K., Catharine A. Trieber, Charles F. B. Holmes, and Howard S. Young. 2012. “Lethal, Hereditary Mutants of Phospholamban Elude Phosphorylation by Protein Kinase A.” The Journal of Biological Chemistry 287 (32): 26596–605.
Chang, Irene J., Miao He, and Christina T. Lam. 2018. “Congenital Disorders of Glycosylation.”Annals of Translational Medicine 6 (24): 477.
Chiu, Christine, Molly Tebo, Jodie Ingles, Laura Yeates, Jonathan W. Arthur, Joanne M. Lind, and Christopher Semsarian. 2007. “Genetic Screening of Calcium Regulation Genes in Familial Hypertrophic Cardiomyopathy.” Journal of Molecular and Cellular Cardiology 43 (3): 337–43.
Dang Do, An N., Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, et al. 2023. “Elevated Oxysterol and N-Palmitoyl-O-Phosphocholineserine Levels in Congenital Disorders of Glycosylation.” Journal of Inherited Metabolic Disease 46 (2): 326–34.
Den, Kouhei, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, et al. 2019. “Recurrent NUS1 Canonical Splice Donor Site Mutation in Two Unrelated Individuals with Epilepsy, Myoclonus, Ataxia and Scoliosis - a Case Report.” BMC Neurology 19 (1): 253.
Drilon, Alexander, Chelsea Jenkins, Sudarshan Iyer, Adam Schoenfeld, Clare Keddy, and Monika A. Davare. 2021. “ROS1-Dependent Cancers - Biology, Diagnostics and Therapeutics.” Nature Reviews. Clinical Oncology 18 (1): 35–55.
Fagerberg, Linn, Björn M. Hallström, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, et al. 2014. “Analysis of the Human Tissue-Specific Expression by Genome-Wide Integration of Transcriptomics and Antibody-Based Proteomics.” Molecular & Cellular Proteomics: MCP 13 (2): 397–406.
Fraiman, Pedro, João Paulo Maia-de-Oliveira, Manuel Moreira-Neto, and Clecio Godeiro-Junior. 2021. “Psychosis in NUS1 de Novo Mutation: New Phenotypical Presentation.”Clinical Genetics 99 (3): 475–76.
Haghighi, Kobra, Fotis Kolokathis, Luke Pater, Roy A. Lynch, Michio Asahi, Anthony O. Gramolini, Guo-Chang Fan, et al. 2003. “Human Phospholamban Null Results in Lethal Dilated Cardiomyopathy Revealing a Critical Difference between Mouse and Human.” The Journal of Clinical Investigation111 (6): 869–76.
Hamdan, Fadi F., Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, et al. 2017. “High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.”American Journal of Human Genetics 101 (5): 664–85.
Helderman, Noah Cornelis, Diantha Terlouw, Laia Bonjoch, Mariano Golubicki, Marina Antelo, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, and Maartje Nielsen. 2023. “Molecular Functions of MCM8 and MCM9 and Their Associated Pathologies.” iScience 26 (6): 106737.
Hitachi, Keisuke, Hidehito Inagaki, Hiroki Kurahashi, Hitoshi Okada, Kunihiro Tsuchida, and Masahiko Honda. 2019. “Deficiency of Vgll2 Gene Alters the Gene Expression Profiling of Skeletal Muscle Subjected to Mechanical Overload.” Frontiers in Sports and Active Living 1 (October): 41.
Jiang, Li, Jun-Pu Mei, Yu-Wen Zhao, Rui Zhang, Hong-Xu Pan, Yang Yang, Qi-Ying Sun, et al. 2022. “Low-Frequency and Rare Coding Variants of NUS1 Contribute to Susceptibility and Phenotype of Parkinson’s Disease.”Neurobiology of Aging 110 (February): 106–12.
Jordan, Elizabeth, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, et al. 2021. “Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.” Circulation 144 (1): 7–19.
Landstrom, Andrew P., Babatunde A. Adekola, J. Martijn Bos, Steve R. Ommen, and Michael J. Ackerman. 2011. “PLN-Encoded Phospholamban Mutation in a Large Cohort of Hypertrophic Cardiomyopathy Cases: Summary of the Literature and Implications for Genetic Testing.” American Heart Journal 161 (1): 165–71.
Liang, Xiuming, Xiaotian Yuan, Jingya Yu, Yujiao Wu, Kailin Li, Chao Sun, Shuyan Li, et al. 2017. “Histone Chaperone ASF1A Predicts Poor Outcomes for Patients with Gastrointestinal Cancer and Drives Cancer Progression by Stimulating Transcription of β-Catenin Target Genes.” EBioMedicine 21 (July): 104–16.
Mademont-Soler, Irene, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, et al. 2017. “Additional Value of Screening for Minor Genes and Copy Number Variants in Hypertrophic Cardiomyopathy.” PloS One 12 (8): e0181465.
Sanoudou, Despina, Fotis Kolokathis, Demetris Arvanitis, Kholoud Al-Shafai, Navaneethakrishnan Krishnamoorthy, Rachel J. Buchan, Roddy Walsh, et al. 2015. “Genetic Modifiers to the PLN L39X Mutation in a Patient with DCM and Sustained Ventricular Tachycardia?” Global Cardiology Science & Practice2015 (2): 29.
Szafranski, Przemyslaw, Gretchen K. von Allmen, Brett H. Graham, Angus A. Wilfong, Sung-Hae L. Kang, Jose A. Ferreira, Sheila J. Upton, et al. 2015. “6q22.1 Microdeletion and Susceptibility to Pediatric Epilepsy.” European Journal of Human Genetics: EJHG 23 (2): 173–79.
Tsai, Meng-Han, Alison M. Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, et al. 2020. “Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.” Neuron 106 (2): 237–45. e8.
Yu, Seok-Ho, Tong Wang, Kali Wiggins, Raymond J. Louie, Emilio F. Merino, Cindy Skinner, Maria B. Cassera, et al. 2021. “Lysosomal Cholesterol Accumulation Contributes to the Movement Phenotypes Associated with NUS1 Haploinsufficiency.”Genetics in Medicine: Official Journal of the American College of Medical Genetics 23 (7): 1305–14.
Zhang, Pingli, Di Cui, Peiyuan Liao, Xiang Yuan, Nuan Yang, Yuanyuan Zhen, Jing Yang, and Qikun Huang. 2021. “Case Report: Clinical Features of a Chinese Boy with Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant.” Frontiers in Pediatrics 9 (August): 725231.
Table 1: Lipid Panel