The Paul G Moe, MD Excellence in Child Neurology Award, Section of Neurology
(2018)
For exemplary service in teaching, teamwork, and patient care
Nursing Excellence Award for Empiricial Outcomes, CHCO Nursing
(2018)
interprofessional team award to the department of Neurology Complex Drug Team)
Publications
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Dudding-Byth T, Boycott KM. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. PubMed PMID: 28659154
Colvin MK, Poysky J, Kinnett K, Damiani M, Gibbons M, Hoskin J, Moreland S, Trout CJ, Weidner N. Psychosocial Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics. 2018 Oct;142(Suppl 2):S99-S109. PubMed PMID: 30275254
Angione K, Gibbons M, Demarest S. An Objective Method for Evaluating Next-Generation Sequencing Panels. J Child Neurol. 2018 Dec 20;:883073818815036. [Epub ahead of print] PubMed PMID: 30569809
. The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. Epilepsia. 2019 May;60(5):797-806. PubMed PMID: 30951195
Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bönnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews KD. Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Neurol Genet. 2019 Apr;5(2):e315. PubMed PMID: 31041397
Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG. TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol. 2015 Dec;78(6):982-994. PubMed PMID: 26418456
Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Invest Ophthalmol Vis Sci. 2005 May;46(5):1735-41. PubMed PMID: 15851576
Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003 Nov;73(5):1131-46. PubMed PMID: 14564670
Gibbons MA, Stratton A, Parsons J. Spinal Muscular Atrophy (SMA) in the Therapeutic Era. Current Genetic Medicine Reports. Forthcoming; doi: 10.1007/s40142-019-00172-9.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. PubMed PMID: 33963192; PubMed Central PMCID: PMC8105379.
Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications. Epilepsy Res. 2023 Jul;193:107167. PubMed PMID: 37230012
Schroth M, Deans J, Arya K, Castro D, De Vivo DC, Gibbons MA, Ionita C, Kuntz NL, Lakhotia A, Neil Knierbein E, Scoto M, Sejersen T, Servais L, Tian C, Waldrop MA, Vázquez-Costa JF. Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations. Neurol Clin Pract. 2024 Aug;14(4):e200310. PubMed PMID: 38915908