Guy Helman

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 18

Top Venues

Nature communications

Annals of neurology

Human mutation

American journal of medical genetics. Part A

Children's National Health System

George Washington University (BSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Children's National Health System Jul 08 2013 - Jan 01 2016

United States

Clinical Research Assistant :: Neurology

Education History

George Washington University Aug 26 2009 - May 19 2013

United States

BSC :: Biology

Publications

Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella Helena Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha Saad Zaki, Alban Ziegler, David R Thorburn, David Arthur Stroud, Reza Maroofian, John Chrisodoulou, Claes M Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature communications 14 (1) (2023)
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 Knaap
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants. Neuropediatrics 53 (2) (2022)
Guy Helman, Parand Zarekiani, Samantha A M Tromp, Ashley Andrews, Lorenzo D Botto, Joshua Leith Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Constance Smith-Hicks, Giovanna Vaula, Michel A A P Willemsen, Mareike Schimmel, Kurt Vollert, Fumitaka Shimizu, Takashi Kanda, Matthew Lynch, Tony Roscioli, Ryan J Taft, Cas Simons, Marianna Bugiani, Taco W Kuijpers, Marjo S van der Knaap
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy. Annals of neurology 92 (5) (2022)
Guy Helman, Alison G Compton, Daniella Helena Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Yang Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Chrisodoulou, Susan M White, David R Thorburn, David Arthur Stroud, Zornitza Stark, Cas Simons
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Human mutation 42 (1) (2020)
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C E Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, null null, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha Saad Zaki, Reza Maroofian, Joseph G Gleeson
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European journal of human genetics : EJHG 29 (2) (2020)
Guy Helman, Bryan R Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M Gross, Vladimir G Gainullin, Stephen J Bent, Emma M Jenkinson, Sacha Ferdinandusse, Hans R Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I Wolf, Truus E M Abbink, Susan M Kirwin, Christina M Tan, Grace M Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S van der Knaap, Cas Simons, Ryan J Taft, Adeline Vanderver
Genome sequencing in persistently unsolved white matter disorders. Annals of clinical and translational neurology 7 (1) (2020)
Guy Helman, Asako Takanohashi, Tracy L Hagemann, Ming D Perng, Marzena Walkiewicz, Sarah Woidill, Sunetra Sase, Zachary Cross, Yangzhu Du, Ling Zhao, Amy Waldman, Bret C Haake, Ali Fatemi, Michael Brenner, Omar Sherbini, Albee Messing, Adeline Vanderver, Cas Simons
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human mutation 41 (6) (2020)
Adeline Vanderver, Geneviève Bernard, Guy Helman, Omar Sherbini, Ryan Boeck, Jeffrey Cohn, Abigail Collins, Scott Demarest, Katherine Dobbins, Lisa Emrick, Jamie L Fraser, Diane Masser-Frye, Jean Hayward, Swati Karmarkar, Stephanie Keller, Samuel Mirrop, Wendy Mitchell, Sheel Pathak, Elliott Sherr, Keith van Haren, Erica Waters, Jenny L Wilson, Leah Zhorne, Raphael Schiffmann, Marjo S van der Knaap, Amy Pizzino, Holly Dubbs, Justine Shults, Cas Simons, Ryan J Taft, null null
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Annals of neurology 88 (2) (2020)
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, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zoe Powis, Grace M Hobson, Susan Kirwin, Bryan Krock, Hane Lee, Joshua L Deignan, Maggie A Westemeyer, Ryan L Subaran, Isabelle Thiffault, Ellen A Tsai, Terry Fang, Guy Helman, Adeline Vanderver
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. American journal of medical genetics. Part A 182 (8) (2020)
Guy Helman, Angela N Viaene, Asako Takanohashi, Marjolein Breur, Rebecca Berger, Sarah Woidill, John R Cottrell, Raphael Schiffmann, Yanick J Crow, Cas Simons, Marianna Bugiani, Adeline Vanderver
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description. Journal of child neurology 36 (2) (2020)
Guy Helman, Suvasini Sharma, Joanna Crawford, Bijoy Patra, Puneet Jain, Stephen J Bent, J Andoni Urtizberea, Ravindra K Saran, Ryan J Taft, Marjo S van der Knaap, Cas Simons
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. Neurology 92 (6) (2019)
Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I Wolf, Geneviève Bernard, Amy Pizzino, Johanna L Schmidt, Asako Takanohashi, David Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J Baillie, Sean M Grimmond, Ljubica Caldovic, Joseph Devaney, Miriam Bloom, Sarah H Evans, Jennifer L P Murphy, Nathan McNeill, Brent L Fogel, null null, Raphael Schiffmann, Marjo S van der Knaap, Ryan J Taft
Whole exome sequencing in patients with white matter abnormalities. Annals of neurology 79 (6) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Guy Helman