Mr Guy Helman

Helman, Guy, Venkateswaran, Sunita and Vanderver, Adeline (2018). The spectrum of adult-onset heritable white-matter disorders. Neurogenetics, Part II. (pp. 669-692) Amsterdam, Netherlands: Elsevier. doi: 10.1016/B978-0-444-64076-5.00043-0

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

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

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

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

Mr Guy Helman

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