Research & Publications

Saldaris J, Leonard H, Wong K, Jacoby P, Spence M, Marsh ED, Benke TA, Demarest ST, Downs J.  J Autism Dev Disord. 2023 May 15. doi: 10.1007/s10803-023-06002-w. Online ahead of print. PMID: 37184758 

Olson HE, Demarest S, Pestana-Knight E, Moosa AN, Zhang X, Pérez-Pérez JR, Weisenberg J, O'Connor Prange E, Marsh ED, Rajaraman RR, Suter B, Katyayan A, Haviland I, Daniels C, Zhang B, Greene C, DeLeo M, Swanson L, Love-Nichols J, Benke T, Harini C, Poduri A.  Epilepsia. 2023 Apr 28. doi: 10.1111/epi.17630. Online ahead of print. PMID: 37114835 

Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED.  J Neurodev Disord. 2023 Mar 4;15(1):10. doi: 10.1186/s11689-023-09479-9. PMID: 36870948; PMCID: PMC9985257. 

Saldaris JM, Jacoby P, Leonard H, Benke TA, Demarest S, Marsh ED, Downs J.  Epilepsy Behav. 2023 Feb;139:109069. doi: 10.1016/j.yebeh.2022.109069. Epub 2023 Jan 10. PMID: 36634535; PMCID: PMC9899310. 

 Saby JN, Mulcahey PJ, Zavez AE, Peters SU, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Benke TA, Marsh ED.  Brain Commun. 2022;4(4):fcac197. PubMed PMID: 35974796 

Amin S, Monaghan M, Aledo-Serrano A, Bahi-Buisson N, Chin RF, Clarke AJ, Cross JH, Demarest S, Devinsky O, Downs J, Pestana Knight EM, Olson H, Partridge CA, Stuart G, Trivisano M, Zuberi S, Benke TA.  Front Neurol. 2022;13:874695. PubMed PMID: 35795799 

Stansauk J, Fidell A, Benke T, Schaffer M, Demarest ST.  Am J Med Genet A. 2023 Jan;191(1):108-111. doi: 10.1002/ajmg.a.62995. Epub 2022 Nov 13. PMID: 36372969; PMCID: PMC9886132. 

 Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J, Leonard H.  Eur J Hum Genet. 2023 Feb;31(2):169-178. doi: 10.1038/s41431-022-01163-1. Epub 2022 Aug 18.PMID: 35978140 

Leonard H, Whitehouse A, Jacoby P, Benke T, Demarest S, Saldaris J, Wong K, Reddihough D, Williams K, Downs J.  Res Dev Disabil. 2022 Oct;129:104322. doi: 10.1016/j.ridd.2022.104322. Epub 2022 Aug 5. PMID: 35939908; PMCID: PMC9792277. 

Demarest S, Marsh R, Treat L, Fisher MP, Dempsey A, Junaid M, Downs J, Leonard H, Benke T, Morris MA.  J Child Neurol. 2022 May;37(6):451-460. doi: 10.1177/08830738221076285. Epub 2022 Feb 23. PMID: 35196159; PMCID: PMC10231496. 

 Leonard H, Gold W, Samaco R, Sahin M, Benke T, Downs J.  Orphanet J Rare Dis. 2022 Mar 4;17(1):108. doi: 10.1186/s13023-022-02240-w. PMID: 35246185; PMCID: PMC8894842. 

Downs J, Jacoby P, Saldaris J, Leonard H, Benke T, Marsh E, Demarest S.  J Sleep Res. 2022 Oct;31(5):e13600. doi: 10.1111/jsr.13600. Epub 2022 Apr 12. PMID: 35415902; PMCID: PMC9489598.

Peter Jacoby, MSc – The Kids Research Institute Australia; Jenny Downs, MSc – The Kids Research Institute Australia; Eric Marsh, MD, PhD – Children's Hospital of Philadelphia; Jacinta Saldaris, PhD – The Kids Research Institute Australia; Helen Leonard, MBChB – The Kids Research Institute Australia; Bernhard Suter, MD – Baylor College of Medicine; Elia Pestana Knight, MD – Cleveland Clinic Epilepsy Center; Heather Olson, MD, MS – Boston Children's Hospital, Harvard Medical School; Dana Price, MD – NYU Langone Health; Judith Weisenberg, MD – Washington University of St. Louis; Rajsekar Rajaraman, MD, MS – UCLA Mattel Children's Hospital; Scott Demarest, MD – Children's Hospital Colorado; Tim Benke, MD – University of Colorado School of Medicine. https://aesnet.org/abstractslisting/stability-and-meaningful-change-estimation-using-a-measure-of-global-severity-in-cdkl5-deficiency-disorder-readiness-for-clinical-trials

 Hailey Osika, BA – Boston Children's Hospital; Aubrie Soucy Verran, BA – Boston Children's Hospital; Lindsay Swanson, MS, CGC – Boston Children's Hospital; Zoë Frazier, MS, CGC – Boston Children's Hospital; Isabel Haviland, MD – Boston Children's Hospital; Jenna Lucash, BA – Boston Children's Hospital; Nancy Aly, MD – Boston Children's Hospital; Christelle Moufawad el Achkar, MD – Boston Children's Hospital; William Hong, MD – Boston Children's Hospital; Helen Leonard, MBChB – Telethon Kids Institute; Jenny Downs, PhD – Telethon Kids Institute; Holly Dubs, MS, CGC – Children's Hospital of Philadelphia; Timothy Yu, MD, PhD – Boston Children's Hospital; Bernhard Suter, MD – Baylor College of Medicine; Rajsekar Rajaraman, MD, MS – UCLA Mattel Children's Hospital; Judith Weisenberg, MD – Washington University of St. Louis; Elia Pestana Knight, MD – Cleveland Clinic Epilepsy Center; Eric Marsh, MD PhD – Children's Hospital of Philadelphia; Dana Price, MD – NYU Langone Health; Scott Demarest, MD – Children's Hospital Colorado; Tim Benke, MD – University of Colorado School of Medicine; Heather Olson, MD, MS – Boston Children's Hospital, Harvard Medical School. https://aesnet.org/abstractslisting/mapping-variants-in-cdkl5-to-assess-potential-impact-of-dna-or-rna-based-therapies

Jacinta Saldaris, PhD – Telethon Kids Institute; Scott Demarest, MD – Children's Hospital Colorado; Peter Jacoby, MSc – Telethon Kids Institute; Heather Olson, MD, MS – Boston Children's Hospital, Harvard Medical School; Kiran Maski, MD – Boston Children’s Hospital
Elia Pestana Knight, MD – Cleveland Clinic Epilepsy Center; Dana Price, MD – NYU Langone Health; Rajsekar Rajaraman, MD, MS – UCLA Mattel Children's Hospital; Bernhard Suter, MD – Baylor College of Medicine; Judith Weisenberg, MD – Washington University of St. Louis; Helen Leonard, MBChB – Telethon Kids Institute; Eric Marsh, MD PhD – Children's Hospital of Philadelphia; Tim Benke, MD – University of Colorado School of Medicine; Jenny Downs, PhD – Telethon Kids Institute. https://aesnet.org/abstractslisting/modification-of-a-parent-report-sleep-scale-for-individuals-with-cdkl5-deficiency-disorder-a-psychometric-study

Joni Saby, PhD – Children's Hospital of Philadlephia; Tim Benke, MD, PhD – Children's Hospital of Denver; Jacinta Soldaris, PhD – Telethon Kids Institute; Scott Demerest, MD – Childrens's Hospital of Denver; Jenny Downs, PhD – Telethon Kids Institute; Peter Jacoby, PhD – Telethon Kids Institute; Helen Leonard, MD – Telethon Kids Institute; Gina Vanderveen, MPh – Children's Hospital of Denver; Eric Marsh, MD, PhD – Children's Hospital of Philadlephia. https://aesnet.org/abstractslisting/quantitative-eeg-as-an-objective-outcome-measure-for-cdkl5-deficiency-disorder

Jenny Downs, BApplSci (physio) GradCertPubHlth MSc PhD – Telethon Kids Institute;  Peter Jacoby, MSc – Biostatistician, Child Disability, Telethon Kids Institute; Eric Marsh, MD – Children’s Hospital of Philadelphia; Jacinta Saldaris, Phd – Telethon Kids Institute; Helen Leonard, MBChB – Telethon Kids Institute; Bernhard Suter, MD – Texas Children’s Hospital; Elia Pestana Knight, MD – Cleveland Clinic; Heather Olson, MD – Boston Children’s Hospital; Dana Price, MD – NYU Langone Health; Judith Weisenberg, MD – Washington University of St. Louis; Raj Rajaraman, MD – UCLA Mattel Children’s Hospital; Scott Demarest, MD – Children’s Hospital Colorado; Tim Benke, MD – University of Colorado School of Medicine
https://aesnet.org/abstractslisting/multidimensional-analysis-predicts-clinical-severity-in-cdkl5-deficiency-disorder-readiness-for-clinical-trials

Tim Benke, MD PhD – Children’s Hospital Colorado, Pediatric Neurology, University of Colorado School of Medicine.  Jacinta Saldaris, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Peter Jacoby, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Helen Leonard, MBBS – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Eric Marsh, MD PhD – Division of Neurology, Children’s Hospital of Philadelphia, School of Medicine, University of Pennsylvania; Gina VanderVeen, MPH – Children’s Hospital Colorado, Paediatric Neurology, University of Colorado School of Medicine; Scott Demarest, MD – Children’s Hospital Colorado, Paediatric Neurology, University of Colorado School of Medicine; Jenny Downs, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia. https://aesnet.org/abstractslisting/psychometric-properties-of-an-adapted-gross-motor-scale-for-cdkl5-deficiency-disorder-in-readiness-for-clinical-trials

Jacinta Saldaris, PhD – Telethon Kids Institute;  Jessica Keeley, BPsych(Hons) – Child Disability – Telethon Kids Institute; Sofia Benson-Goldberg, PhD – Department of Health Sciences, School of Medicine – University of North Carolina at Chapel Hill; Judy Lariviere, M.Ed, OTR/L – Assistive Tech 4 ALL; Helen Leonard, MBChB, MPH – Child Disability – Telethon Kids Institute; Eric Marsh, MD, PhD – Division of Neurology – Children’s Hospital of Philadelphia; Scott Demarest, MD – Paediatric Neurology – Children's Hospital Colorado; Tim Benke, MD, PhD – Paediatric Neurology – Children’s Hospital Colorado; Peter Jacoby, BA (Hons), MSc – Telethon Kids Institute; Jenny Downs, PhD – Child Disability – Telethon Kids Institute. https://aesnet.org/abstractslisting/insights-into-communicative-behaviors-of-people-with-cdkl5-deficiency-disorder-a-descriptive-qualitative-study-of-caregiver-perspectives

Jacinta Saldaris, PhD – Telethon Kids Institute, Centre for Child Health Research; Helen Leonard, MBChB MPH – Telethon Kids; Peter Jacoby, MSc – Telethon Kids; Scott Demarest, MD – Children's Hospital of Colorado; Tim Benke, MD, PhD – Children's hospital of Colorado; Eric Marsh, MD, PhD – Children's Hospital of Philadelphia; Jenny Downs, PhD – Telethon Kids. https://aesnet.org/abstractslisting/psychometric-properties-of-a-quality-of-life-measure-for-cdkl5-deficiency-disorder--establishing-readiness-for-clinical-trials

Tim Benke, MD/PhD – University of Colorado School of Medicine/Childrens Hospital Colorado; Scott Demarest, MD – University of Colorado School of Medicine/Childrens Hospital Colorado; Gina Vanderveen, MPH – University of Colorado School of Medicine/Childrens Hospital Colorado; Jenny Downs, PhD – Telethon Kids Institute and School of Allied Health/Curtin University; eric Marsh, MD/PhD – Children's Hospital of Philadelphia/Perelman School of Medicine-University of Pennsylvania; Helen Leonard, MD – Telethon Kids Institute; Peter Jacoby, MS – Telethon Kids Institute; Jacinta Saldaris, PhD – Telethon Kids Institute. https://aesnet.org/abstractslisting/multi-site-validation-of-biomarkers-and-core-clinical-outcome-measures-for-clinical-trials-readiness-in-cdkl5-deficiency-disorder

Scott Demarest, MD, MSCS – University of Colorado; Sonja Ziniel, PhD – University of Colorado; Alexandra Mackie, BS – University of Colorado; Jacinta Saldaris, PhD – Telethon Kids Institute, Perth, Western Australia, Australia; Leonard Helen, MBChB, MPH – Telethon Kids Institute, Perth, Western Australia, Australia; Peter Jacoby, MSc – Telethon Kids Institute, Perth, Western Australia, Australia; Eric Marsh, MD, PhD – Children’s Hospital of Philadelphia, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Bernhard Suter, MD – Baylor College of Medicine, Texas Children’s Hospital, Houston, TX, USA; Elia Pestana Knight, MD – CCLMC, Cleveland, Ohio; Heather Olson, MD MS – Boston Children’s Hospital, Boston, MA, USA; Dana Price, MD – NYU Langone Health, New York, NY, USA; Judith Weisenberg, MD – Washington University of St. Louis, St. Louis, Missouri, USA; Raj Rajaraman, MD – UCLA Mattel Children’s Hospital, Los Angeles, CA, USA; Gina VanderVeen, MS – University of Colorado; Tim Benke, MD, PhD – University of Colorado; Jenny Downs, BApplSci, GradCertPubHlth, MSc, PhD – Telethon Kids Institute, Perth, Western Australia, Australia. https://aesnet.org/abstractslisting/content-and-response-process-validation-of-the-parent-reported-cdkl5-clinical-severity-assessment

Elizabeth Gibbons, Clinical Outcomes Solutions; Lara Sams, Clinical Outcomes Solutions; Nicola Specchio, Bambino Gesù Children's Hospital; Tim Benke, Children’s Hospital Colorado; Helen Cross, Great Ormond Street Hospital; Karen Utley, International Found. https://aesnet.org/abstractslisting/multi-site-validation-of-biomarkers-and-core-clinical-outcome-measures-for-clinical-trials-readiness-in-cdkl5-deficiency-disorder

Scott Demarest, Children's Hospital Colorado/ University of Colorado Denver; Heather Olson, Boston Children's Hospital; Sumit Parikh, Cleveland Clinic; Elia Pestana Knight; and Tim Benke, University of Colorado. https://aesnet.org/abstractslisting/phenotypic-characterization-of-cdkl5-deficiency-syndrome