Mr Guy Helman
Higher degree by research (PhD/MD) student
Institute for Molecular Bioscience
334 62075
Book Chapter
Helman, Guy, Venkateswaran, Sunita and Vanderver, Adeline (2018). The spectrum of adult-onset heritable white-matter disorders. Handbook of Clinical Neurology. (pp. 669-692) Amsterdam, NX Netherlands: Elsevier. doi: 10.1016/B978-0-444-64076-5.00043-0
Journal Articles
Dutta, Debdeep, Briere, Lauren C., Kanca, Oguz, Marcogliese, Paul C., Walker, Melissa A., High, Frances A., Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J., Simons, Cas, Helman, Guy, Undiagnosed Diseases Netwrok, Wangler, Michael F., Yamamoto, Shinya, Sweetser, David A. and Bellen, Hugo J. (2020). De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics, 29 (9), 1568-1579. doi: 10.1093/hmg/ddaa081
Helman, Guy, Sharma, Suvasini, Crawford, Joanna, Patra, Bijoy, Jain, Puneet, Bent, Stephen J., Urtizberea, J. Andoni, Saran, Ravindra K., Taft, Ryan J., van der Knaap, Marjo S. and Simons, Cas (2019). Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. Neurology, 92 (6), e587-e593. doi: 10.1212/wnl.0000000000006886
Conant, Alexander, Curiel, Julian, Pizzino, Amy, Sabetrasekh, Parisa, Murphy, Jennifer, Bloom, Miriam, Evans, Sarah H., Helman, Guy, Taft, Ryan J., Simons, Cas, Whitehead, Matthew T., Moore, Steven A. and Vanderver, Adeline (2018). Absence of axoglial paranodal junctions in a child with CNTNAP1 mutations, hypomyelination, and arthrogryposis. Journal of Child Neurology, 33 (10), 642-650. doi: 10.1177/0883073818776157
Pizzino, Amy, Whitehead, Matthew, Sabet Rasekh, Parisa, Murphy, Jennifer, Helman, Guy, Bloom, Miriam, Evans, Sarah H., Murnick, John G., Conry, Joan, Taft, Ryan J., Simons, Cas, Vanderver, Adeline and Adang, Laura A. (2018). Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy. American Journal of Medical Genetics. Part A, 176 (6), 1443-1448. doi: 10.1002/ajmg.a.38717
Simons, Cas, Dyment, David, Bent, Stephen J., Crawford, Joanna, D'Hooghe, Marc, Kohlschuetter, Alfried, Venkateswaran, Sunita, Helman, Guy, Poll-The, Bwee-Tien, Makowski, Christine C., Ito, Yoko, Kernohan, Kristin, Hartley, Taila, Waisfisz, Quinten, Taft, Ryan J., van der Knaap, Marjo S. and Wolf, Nicole I. (2017). A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. Brain, 140 (12), 3105-3111. doi: 10.1093/brain/awx314
Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I., Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S., Liu, Judy, Padiath, Quasar and Vanderver, Adeline (2017). TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Human Molecular Genetics, 26 (22), 4506-4518. doi: 10.1093/hmg/ddx338
Armangue, Thais, Orsini, Joseph J., Takanohashi, Asako, Gavazzi, Francesco, Conant, Alex, Ulrick, Nicole, Morrissey, Mark A., Nahhas, Norah, Helman, Guy, Gordish-Dressman, Heather, Orcesi, Simona, Tonduti, Davide, Stutterd, Chloe, van Haren, Keith, Toro, Camilo, Iglesias, Alejandro D., van der Knaap, Marjo S., Goldbach Mansky, Raphaela, Moser, Anne B., Jones, Richard O. and Vanderver, Adeline (2017). Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. Molecular Genetics and Metabolism, 122 (3), 134-139. doi: 10.1016/j.ymgme.2017.07.006
Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, Miriam, Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Karnebeek, Clara D. M., Dorboz, Imen, Boespflug-Tanguy, Odile, Rodriguez, Diana, Tetreault, Martine, Majewski, Jacek, Bernard, Genevieve, Ng, Yi Shiau, McFarland, Robert and Vanderver, Adeline (2017). RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss—another mendelian mimicker of congenital cytomegalovirus infection. Pediatric Neurology, 66, 59-62. doi: 10.1016/j.pediatrneurol.2016.09.003
Kevelam, Sietske H., Steenweg, Marjan E., Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole I. and van der Knaap, Marjo S. (2016). Update on leukodystrophies: a historical perspective and adapted definition. Neuropediatrics, 47 (6), 349-354. doi: 10.1055/s-0036-1588020
Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Genevieve, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Ke-Lin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S. and Taft, Ryan J. (2016). Whole exome sequencing in patients with white matter abnormalities. Annals of Neurology, 79 (6), 1031-1037. doi: 10.1002/ana.24650
Whitehead, Matthew T., Helman, Guy and Gropman, Andrea L. (2016). MR Imaging Findings in Xp21.2 Duplication Syndrome. Journal of Radiology Case Reports, 10 (5), 9-14. doi: 10.3941/jrcr.v10i5.2563
Helman, Guy and Vanderver, Adeline (2016). Correction to: Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy: MRI in Leukoencephalopathy (Annals of Neurology, (2016), 79, 3, (379-386), 10.1002/ana.24572). Annals of Neurology, 84 (3), 481-481. doi: 10.1002/ana.25296
Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L. P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming and Vanderver, Adeline (2015). Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect. American Journal of Human Genetics, 96 (4), 675-681. doi: 10.1016/j.ajhg.2015.02.012
Helman, Guy, Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Pizzino, Amy, Braverman, Nancy, Suhr, Dean, Patterson, Marc C., Ali Fatemi, S., Leonard, Jeff, van der Knaap, Marjo S., Back, Stephen A., Damiani, Stephen, Goldman, Steven A., Takanohashi, Asako, Petryniak, Magdalena, Rowitch, David, Messing, Albee, Wrabetz, Lawrence, Schiffmann, Raphael, Eichler, Florian, Escolar, Maria L., Vanderver, Adeline and GLIA Consortium (2015). Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism, 114 (4), 527-36. doi: 10.1016/j.ymgme.2015.01.014
Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Murphy, Jennifer L., Pizzino, Amy, Helman, Guy, Suhr, Dean, Waggoner, Jacque, Hobson, Don, Vanderver, Adeline, Patterson, Marc C. and GLIA Consortium (2015). Consensus statement on preventive and symptomatic care of leukodystrophy patients. Molecular Genetics and Metabolism, 114 (4), 516-526. doi: 10.1016/j.ymgme.2014.12.433
Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Genevieve, Schiffmann, Raphael, Simons, Cas and Vanderver, Adeline (2014). TUBB4A de novo mutations cause isolated hypomyelination. Neurology, 83 (10), 898-902. doi: 10.1212/WNL.0000000000000754
Helman, Guy, Pappa, Maria Belen and Pearl, Phillip L. (2014). Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD reports, 17, 23-7. doi: 10.1007/8904_2014_327