GuyHelmanMDPhD

PubMed

• SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
  Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman, Francesco Gavazzi, Laura Adang, Russell D'Aiello, Patrick Winters, ...> ;Molecular Genetics and Metabolism. 2022 Dec 1
• 1 citations
  Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.
  Kaiyuan Wu, Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patricia Dias, Jeanette Beers, Yongshun Lin, Cas Simons, Ernst Wolvetang, Jizhong Zou, Adeline...> ;Stem Cell Research. 2022 Oct 1
• 12 citations
  Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10
  Guy Helman, Alison G. Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Yang Tan, Ricardo De Paoli-Iseppi, Michael B. Clark, John Christodo...> ;Human Mutation. 2021 Jan 1
• 22 citations
  Genome sequencing in persistently unsolved white matter disorders
  Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. J...> ;Annals of Clinical and Translational Neurology. 2020 Jan 1
• 2 citations
  Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.
  Guy Helman, Lauren E Taylor, Marzena Walkiewicz, Maelle Le Moing, Stefanie Eggers, Joy Yaplito-Lee, Maria Fuller, Gabriel Dabscheck, Victoria Rodriguez-Casero, Susan M...> ;European Journal of Medical Genetics. 2021 Aug 1
• 26 citations
  Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
  Guy Helman, Ljubica Caldovic, Matthew T. Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J. Michael Taylor, Keith Van Haren, Ryan ...> ;Annals of Neurology. 2016 Mar 1
• 11 citations
  Expanded phenotype of AARS1-related white matter disease.
  Guy Helman, Marisa I. Mendes, Francesco Nicita, Lama Darbelli, Omar Sherbini, Travis Moore, Alexa Derksen, Amy Pizzino, Rosalba Carrozzo, Alessandra Torraco, Michela C...> ;Genetics in Medicine. 2021 Aug 27
• 4 citations
  Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.
  Menno D Stellingwerff, Corinne Nulton, Guy Helman, Stefan D Roosendaal, William S Benko, Amy Pizzino, Marianna Bugiani, Adeline Vanderver, Cas Simons, Marjo S van der ...> ;Neuropediatrics. 2022 Apr 1
• 9 citations
  Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
  Thomas Cloney, Lyndon Gallacher, Lynn Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B. Delatycki, Michelle G. de Silva...> ;Journal of Medical Genetics. 2021 Nov 5
• 14 citations
  Biallelic PI4KA variants cause neurological, intestinal and immunological disease
  Claire G. Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Amber J. McCartney, Joseph S Leslie, Andrea Accogoli, Frederico Zara, M. Traverso, James Fasham, Jo...> ;Brain. 2021 Aug 20
• 1 citations
  Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
  Guy Helman, Ayelet Zerem, Akshata Almad, Julia L. Hacker, Sarah Woidill, Sunetra Sase, Alexandra N. LeFevre, Josef Ekstein, Martin Johansson, Chloe A Stutterd, Ryan J....> ;Pediatric Neurology. 2021 May 14
• 3 citations
  Cerebral microangiopathy in leukoencephalopathy with cerebral calcifications and cysts: a pathological description
  Guy Helman, Angela N. Viaene, Asako Takanohashi, Marjolein Breur, Rebecca Berger, Sarah Woidill, John R. Cottrell, Raphael Schiffmann, Yanick J. Crow, Cas Simons, Mari...> ;Journal of Child Neurology. 2021 Feb 1
• 6 citations
  A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
  Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pai...> ;European Journal of Human Genetics. 2021 Feb 1
• 79 citations
  Janus Kinase Inhibition in the Aicardi–Goutières Syndrome
  Adeline Vanderver, Laura Adang, Francesco Gavazzi, Katherine McDonald, Guy Helman, David B. Frank, Nicole Jaffe, Sabrina W. Yum, Abigail Collins, Stephanie Keller, Pie...> ;The New England Journal of Medicine. 2020 Sep 2
• 18 citations
  Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
  Johanna L. Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora J. H. Bean, Cristina da Silva, Megan T. Cho, Rebecc...> ;American Journal of Medical Genetics. Part A. 2020 Jun 23
• 23 citations
  De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
  D. Dutta, Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa A. Walker, Frances A. High, Adeline Vanderver, Joel B. Krier, Nikkola Carmichael, Christine J Call...> ;Human Molecular Genetics. 2020 Jun 3
• 16 citations
  Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
  Adeline Vanderver, Geneviève Bernard, Guy Helman, Omar Sherbini, Ryan Boeck, Jeffrey Cohn, Abigail Collins, Scott Demarest, Katherine Dobbins, Lisa Emrick, Jamie L. Fr...> ;Annals of Neurology. 2020 Aug 1
• 7 citations
  Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
  Hannah Elisabeth Smashey Lewis, Debopam Samanta, Jenny Li Örsell, Katherine A. Bosanko, Amy C. Rowell, Melissa Jones, Russell C. Dale, Sasidharan Taravath, Cecil D. Ha...> ;Pediatric Neurology. 2020 Apr 13
• 14 citations
  Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
  Guy Helman, Asako Takanohashi, Tracy L. Hagemann, Ming Der Perng, Marzena Walkiewicz, Sarah Woidill, Sunetra Sase, Zachary Cross, Yangzhu Du, Ling Zhao, Amy Waldman, B...> ;Human Mutation. 2020 Mar 3
• 45 citations
  Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
  Huifang Yan, Guy Helman, Swetha E. Murthy, Haoran Ji, Joanna Crawford, Thomas Kubisiak, Stephen J. Bent, Jiangxi Xiao, Ryan J. Taft, Adam Coombs, Ye Wu, Ana Pop, Dongx...> ;American Journal of Human Genetics. 2019 Nov 7
• 12 citations
  Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
  Guy Helman, Suvasini Sharma, Joanna Crawford, Bijoy Patra, Puneet Jain, Stephen J. Bent, J. Andoni Urtizberea, Ravindra Kumar Saran, Ryan J. Taft, Marjo S. van der Kna...> ;Neurology. 2019 Feb 5
• 29 citations
  Aicardi goutières syndrome is associated with pulmonary hypertension
  Laura Adang, David B. Frank, Ahmed Gilani, Asako Takanohashi, Nicole Ulrick, Abigail Collins, Zachary Cross, Csaba Galambos, Guy Helman, Usama Kanaan, Stephanie Keller...> ;Molecular Genetics and Metabolism. 2018 Dec 1
• Correction to Helman et al (2016) MRI spectrum of SDH deficiency-related infantile leukoencephalopathy.
  Guy Helman, Adeline Vanderver> ;Annals of Neurology. 2018 Sep 1
• 10 citations
  Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
  Alex Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer L. Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehe...> ;Journal of Child Neurology. 2018 Jun 8
• 12 citations
  Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy
  Amy Pizzino, Matthew T. Whitehead, Parisa Sabet Rasekh, Jennifer L. Murphy, Guy Helman, Miriam Bloom, Sarah H. Evans, John G. Murnick, Joan A. Conry, Ryan J. Taft, Cas...> ;American Journal of Medical Genetics. Part A. 2018 Apr 25
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