Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction
Bar, Omri, Ebenau, Laurie, Weiner, Kellee, Mintz, Mark, Boles, Richard G
Published in Frontiers in neurology (05.05.2023)
Published in Frontiers in neurology (05.05.2023)
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Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half
Bar, Omri, Vahey, Elizabeth, Mintz, Mark, Frye, Richard E, Boles, Richard G
Published in International journal of molecular sciences (01.01.2024)
Published in International journal of molecular sciences (01.01.2024)
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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Published in PLoS genetics (27.04.2016)
Published in PLoS genetics (27.04.2016)
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North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Consensus Statement on the Diagnosis and Management of Cyclic Vomiting Syndrome
Li, B UK, Lefevre, Frank, Chelimsky, Gisela G, Boles, Richard G, Nelson, Susanne P, Lewis, Donald W, Linder, Steven L, Issenman, Robert M, Rudolph, Colin D
Published in Journal of pediatric gastroenterology and nutrition (01.09.2008)
Published in Journal of pediatric gastroenterology and nutrition (01.09.2008)
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Conference Proceeding
Synchrony 2022: The Role of Neuroinflammation in Behavioral Exacerbations in Autism Spectrum Disorder
Frankovich, Jennifer, Nanda, Heer, Mellins, Elizabeth D, Jyonouchi, Harumi, Boles, Richard G, Walker, Stephen J, Gaitanis, John, Frye, Richard E
Published in Journal of personalized medicine (01.07.2023)
Published in Journal of personalized medicine (01.07.2023)
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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
Arnold, Georgianne L., Van Hove, Johan, Freedenberg, Debra, Strauss, Arnold, Longo, Nicola, Burton, Barbara, Garganta, Cheryl, Ficicioglu, Can, Cederbaum, Stephen, Harding, Cary, Boles, Richard G., Matern, Dietrich, Chakraborty, Pranesh, Feigenbaum, Annette
Published in Molecular genetics and metabolism (01.03.2009)
Published in Molecular genetics and metabolism (01.03.2009)
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A Personalized Approach to Evaluating and Treating Autism Spectrum Disorder
Frye, Richard E, Rose, Shannon, Boles, Richard G, Rossignol, Daniel A
Published in Journal of personalized medicine (24.01.2022)
Published in Journal of personalized medicine (24.01.2022)
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Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment
McKernan, Kevin J, Spangler, Jessica, Zhang, Lei, Tadigotla, Vasisht, McLaughlin, Stephen, Warner, Jason, Zare, Amir, Boles, Richard G
Published in PloS one (02.05.2014)
Published in PloS one (02.05.2014)
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Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable
Frye, Richard E, Nanda, Heer, Pleasure, Samuel J, Casanova, Manuel F, Boles, Richard G, Lewine, Jeffrey, Gaitanis, John, Adams, James B
Published in Journal of personalized medicine (01.03.2023)
Published in Journal of personalized medicine (01.03.2023)
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Journal Article
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism
Vanzo, Rena J, Prasad, Aparna, Staunch, Lauren, Hensel, Charles H, Serrano, Moises A, Wassman, E Robert, Kaplun, Alexander, Grandin, Temple, Boles, Richard G
Published in Journal of personalized medicine (29.12.2020)
Published in Journal of personalized medicine (29.12.2020)
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Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study
Boles, Richard G, Lovett-Barr, Mary R, Preston, Amy, Li, B Uk, Adams, Kathleen
Published in BMC neurology (28.01.2010)
Published in BMC neurology (28.01.2010)
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Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome
Wang, Qingxue, Ito, Masamichi, Adams, Kathleen, Li, B U.K., Klopstock, Thomas, Maslim, Audrey, Higashimoto, Tomoyasu, Herzog, Juergen, Boles, Richard G.
Published in American journal of medical genetics. Part A (15.11.2004)
Published in American journal of medical genetics. Part A (15.11.2004)
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A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia
van Tilburg, Miranda A L, Parisien, Marc, Boles, Richard G, Drury, Gillian L, Smith-Voudouris, Julian, Verma, Vivek, Khoury, Samar, Chabot-Doré, Anne-Julie, Nackley, Andrea G, Smith, Shad B, Whitehead, William E, Zolnoun, Denniz A, Slade, Gary D, Tchivileva, Inna, Maixner, William, Diatchenko, Luda
Published in Pain (Amsterdam) (01.12.2020)
Published in Pain (Amsterdam) (01.12.2020)
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Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome
Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella, Zare, Amir S., McKernan, Kevin J., Michaud, Jacques, Boles, Richard G., Deal, Cheri L., Desilets, Valerie, Shoubridge, Eric A., Samuels, Mark E.
Published in Human mutation (01.11.2014)
Published in Human mutation (01.11.2014)
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