JoshuaLeitchBonkowskyMDPhD

PubMed

• Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
  Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, Eric Mallack, Rebecca Ahrens-Nicklas, John A Bernat, Annette Bley, Barbara Burton, Alejandra Darling, Florian Eich...> ;Cytotherapy. 2024 Apr 1
• Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
  Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, Jamie L Fraser, Joshua L Bonkowsky, Francesco Gavazzi, Russel D'Aiello, Nicholson B Modesti, Emily Yu, Sylvia Mut...> ;Molecular Genetics and Metabolism. 2024 Mar 18
• Rapid Access Scheduler: A Web-Based System for Direct Provider Scheduling to Pediatric Neurology.
  Slater, T., Zimmerli, J., Nelson, G., Bonkowsky, J.> ;Neurology. Clinical Practice. 2024 Feb 1
• Progress in leukodystrophies with zebrafish.
  Hung-Yu Shih, Quentin Raas, Joshua L Bonkowsky> ;Development, Growth & Differentiation. 2024 Jan 1
• Lithium: effects in animal models of vanishing white matter are not promising.
  Diede Witkamp, Ellen Oudejans, Leoni Hoogterp, Gino V Hu-A-Ng, Kathryn A Glaittli, Tamara J Stevenson, Marleen Huijsmans, Truus E M Abbink, Marjo S van der Knaap, Josh...> ;Frontiers in Neuroscience. 2024 Jan 1
• Generation and characterization of a zebrafish gain-of-functionMitchell disease model.
  Raas, Q., Wood, A., Stevenson, T., Liu, S., Kannan, R., Swartwood, S., Kannan, S., Bonkowsky, J.> ;Frontiers in Pediatrics. 2024 Jan 1
• Using Electroporation to Improve and Accelerate Zebrafish Embryo Toxicity Testing.
  Nusrat Tazin, Tamara J Stevenson, Joshua L Bonkowsky, Bruce K Gale> ;Micromachines. 2023 Dec 26
• Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
  Esplin, E. D., Shanna M Swartwood, Ana Morales, Kathryn E Hatchell, Chad Moretz, Dianalee McKnight, Laurie Demmer, Sarah Chagnon, Swaroop Aradhya, Edward D Esplin, Jos...> ;Epilepsia Open. 2024 Feb 1
• NovelVariants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review.
  Wong, K., Botto, L., He, M., Baker, P., Vanderver, A., Bonkowsky, J.> ;Neurology. Genetics. 2023 Dec 1
• Newborn Screening for Krabbe Disease and Identification of Minority Patients.
  Wilkes, J., Baker, M., Grantham, A., Orsini, J., Bonkowsky, J., Kurtzberg, J.> ;Pediatric Neurology. 2024 Feb 1
• 1 citations
  Transgenic expression in zebrafish embryos with an intact chorion by electroporation and microinjection.
  Nusrat Tazin, Christopher Jordon Lambert, Raheel Samuel, Tamara J Stevenson, Joshua L Bonkowsky, Bruce K Gale> ;Biotechnology Reports. 2023 Dec 1
• 1 citations
  Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
  Daphne H Schoenmakers, Prisca S Leferink, Adeline Vanderver, Joshua L Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L Fogel, ...> ;BMC Neurology. 2023 Aug 17
• Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure.
  Tighe Marrone, Rachel Palmquist, Lincoln D Nadauld, Joshua L Bonkowsky, Sabrina Malone Jenkins, Tower, D., Day, R.> ;Cold Spring Harbor Molecular Case Studies. 2023 Dec 1
• Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
  Danielle Bonser, Sabrina Malone Jenkins, Rachel Palmquist, Stephen Guthery, Joshua L Bonkowsky, Catalina Jaramillo> ;The Journal of Pediatrics. 2023 Sep 1
• 2 citations
  A novelvariant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
  Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue Flores Daboub, Lorenzo D Botto, Peter H Grubb, Josh L Bonkowsky, Nicola Longo, Sabrina Malone Jenkins> ;Clinical Case Reports. 2023 Jan 1
• HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.
  Taylor, D., Heale, B., Chisum, B., Christensen, G., Wilcox, D., Banks, K., Tripp, J., Liu, T., Ruesch, J., Sheffield, T., Breinholt, J., Harward, J., Hakoda, E., May, ...> ;AMIA ... Annual Symposium Proceedings. AMIA Symposium. 2023 Jan 1
• Evaluating visual imagery for participant understanding of research concepts in genomics research.
  Erin Rothwell, Naomi O Riches, Erin Johnson, Kimberly A Kaphingst, Kelsey Kehoe, Sabrina Malone Jenkins, Rachel Palmquist, Carrie Torr, Caren J Frost, Bob Wong, Joshua...> ;Journal of Community Genetics. 2023 Feb 1
• 28 citations
  Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
  Hwang, S. T., Esplin, E. D., Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Michael Scott Perry, Anne T Berg, Felippe Borlot, ...> ;JAMA Neurology. 2022 Dec 1
• 3 citations
  Rapid genome sequencing identifies a novel de novovariant for neonatal congenital myasthenic syndrome.
  Hayley M Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E Boyden, Pinar Bayrak-Toydemir, Thomas J Nicholas, Shawn Rynearson, Carson Holt, Christine ...> ;Cold Spring Harbor Molecular Case Studies. 2022 Dec 1
• 1 citations
  SARS-CoV-2 Infection and Increased Risk for Pediatric Stroke.
  MaryGlen J Vielleux, Shanna Swartwood, Dan Nguyen, Karen E James, Bree Barbeau, Joshua L Bonkowsky> ;Pediatric Neurology. 2023 May 1
• 3 citations
  The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health.
  Nephi A Walton, Brent Hafen, Sara Graceffo, Nykole Sutherland, Melanie Emmerson, Rachel Palmquist, Christine M Formea, Maricel Purcell, Bret Heale, Matthew A Brown, Ch...> ;Journal of Personalized Medicine. 2022 Nov 8
• 4 citations
  Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
  Guy Helman, Parand Zarekiani, Samantha A M Tromp, Ashley Andrews, Lorenzo D Botto, Joshua L Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Cons...> ;Annals of Neurology. 2022 Nov 1
• 1 citations
  Similar antiseizure medication refill characteristics in Hispanic and White pediatric patients.
  Monika Baker, Jaxon C Olsen, Jacob Wilkes, Matthew Sweney, Sean Soisson, Joshua L Bonkowsky> ;Epilepsy Research. 2022 Aug 1
• 1 citations
  The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.
  Joshua L Bonkowsky, Tomi Pastinen, Peter White> ;Pediatric Research. 2023 Feb 1
• 3 citations
  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
  Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez,...> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
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Journal Articles

• Whole-Genome Analysis for Effective Clinical Diagnosis and Gene Discovery in Early Infantile Epileptic Encephalopathy  
  Francis M Filloux, Russell J Butterfield, Meghan S Candee, Joshua L Bonkowsky, Nature