A. Reghan Foley

ScholarGPS® ID: 63572945017367

Affiliation
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, United States
Affiliation History

Field
Medicine
Discipline
Pediatrics
Top Specialties
Neuromuscular Disease | Birth Defect | Muscular Dystrophy | Mutation | Collagen | Peripheral Neuropathy | Natural History | Biomarker | Genomics | Riboflavin | Epilepsy
Metrics Summary
Publication Count
105
Predicted Citations
3,246
Predicted h-index
30
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders (journal article)
Stinissen, Lizan | Bouma, Sietse | Böhm, Johann | van Tienen, Jeno | Fischer, Holger | Hughes, Zak | Lennox, Anne | Ward, Erin | Wood, Marie | Foley, A. Reghan | ... | Voermans, Nicol C.
Neuromuscular Disorders, volume 38 (2024).
10.1016/j.nmd.2023.12.014
Cited by (1) | Cite | Source
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications (journal article)
Geist Hauserman, Janelle | Laverty, Chamindra G. | Donkervoort, Sandra | Hu, Ying | Silverstein, Sarah | Neuhaus, Sarah B. | Saade, Dimah | Vaughn, Gabrielle | Malicki, Denise | Kaur, Rupleen | ... | Bönnemann, Carsten G.
Human Genetics and Genomics Advances, volume 5, issue 2, pages 100274- (2024).
10.1016/j.xhgg.2024.100274
Cite | Source
P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy (journal article)
Bharucha-Goebel, D. | Saade, D. | Todd, J. | Huryn, L. | Norato, G. | DeLong, T. | Averion, G. | Donkervoort, S. | Foley, A. | Acquaye, N. | ... | Bonnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.482
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O16 New FDX2-loss of function phenotype presenting with blindness and myopathy with potential responsiveness to Co-enzyme Q10 analogs (journal article)
Foley, A. | Maio, N. | Todd, J. | Huryn, L. | Saade, D. | Neuhaus, S. | Donkervoort, S. | Hufnagel, R. | Stasheff, S. | Orbach, R. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.268
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P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy (journal article)
Donkervoort, S. | Zaharieva, I. | Essid, M. | Longman, C. | Foley, A. | Horrocks, I. | Benrhouma, H. | Farrugia, M. | Neuhaus, S. | Younes, T. | ... | Sarkozy, A.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.243
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P404 Deep phenotyping and characterization of a patient with a novel autosomal dominant TNNI1-related hypercontractile muscle disease (journal article)
Bach, R Or | Bulea, T. | Donkervoort, S. | Foley, A. | van de Locht, M. | McLean, C. | de Winter, J. | Conijn, S. | Gravunder, A. | Hu, Y. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.235
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P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease (journal article)
Foley, A. | Donkervoort, S. | Bharucha-Goebel, D. | Saade, D. | Flynn, L. | Grunseich, C. | Hu, Y. | Bruels, C. | Littel, H. | Estrella, E. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.195
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P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights (journal article)
Bach, R Or | Syeda, S. | Mohassel, P. | Dohrn, M. | Lone, M. | Donkervoort, S. | Foley, A. | Beijer, D. | Bayraktar, E. | Oflazer, P. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.169
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P.186 Evaluating the feasibility of functional outcomes and biomarkers in young patients with laminin alpha2-related dystrophies performed in clinic or remote (journal article)
Alfano, L. | Jain, M. | Foley, A. | Reash, N. | Iammarino, M. | Lowes, L. | Long, A. | Kent, V. | Hinckley, L. | Acquaye, N. | ... | Connolly, A.
Neuromuscular Disorders, volume 32 (2022).
10.1016/j.nmd.2022.07.329
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VP.72 Diversity of splice-acting variants in the COL6A1, COL6A2 and COL6A3 genes associated with collagen VI-related dystrophies (journal article)
Bolduc, V. | McCarthy, R. | Hu, Y. | Silverstein, S. | Uapinyoying, P. | Donkervoort, S. | Foley, A. | Bönnemann, C.
Neuromuscular Disorders, volume 32 (2022).
10.1016/j.nmd.2022.07.334
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FP.39 An international retrospective early natural history study of LAMA2-related dystrophies (journal article)
Orbach, R. | Park, J. | Hinkley, L. | Acquaye, N. | Alvarez, R. | Dziewczapolski, G. | Bönnemann, C. | Foley, A.
Neuromuscular Disorders, volume 32 (2022).
10.1016/j.nmd.2022.07.325
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P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy (journal article)
Zygmunt, A. | Deng, S. | Donkervoort, S. | Mohassel, P. | Bharucha-Goebel, D. | Saade, D. | Neuhaus, S. | Dastgir, J. | Acquaye, N. | Hinkley, L. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 32 (2022).
10.1016/j.nmd.2022.07.066
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy (journal article)
Donkervoort, Sandra | Krause, Niklas | Dergai, Mykola | Yun, Pomi | Koliwer, Judith | Gorokhova, Svetlana | Geist Hauserman, Janelle | Cummings, Beryl B | Hu, Ying | Smith, Rosemarie | ... | Schwake, Michael
EMBO Molecular Medicine, volume 13, issue 12 (2021).
10.15252/emmm.202013787
Cited by (11) | Cite | Source
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report (journal article)
Sirisena, Nirmala Dushyanthi | Samaranayake, U. M. Jayami Eshana | Neto, Osorio Lopes Abath | Foley, A. Reghan | Pathirana, B. A. P. Sajeewani | Neththikumara, Nilaksha | Paththinige, C. Sampath | Rathnayake, Pyara | Donkervoort, Sandra | Bönnemann, Carsten G. | Dissanayake, Vajira H. W.
BMC Neurology, volume 21, issue 1 (2021).
10.1186/s12883-021-02134-7
Cited by (1) | Cite | Source
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort (journal article)
Bharucha-Goebel, Diana X | Norato, Gina | Saade, Dimah | Paredes, Eduardo | Biancavilla, Victoria | Donkervoort, Sandra | Kaur, Rupleen | Lehky, Tanya | Fink, Margaret | Armao, Diane | ... | Bönnemann, Carsten G
Brain, volume 144, issue 10, pages 3239-3250 (2021).
10.1093/brain/awab179
Cited by (11) | Cite | Source
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies (journal article)
Guadagnin, Eleonora | Mohassel, Payam | Johnson, Kory R. | Yang, Lin | Santi, Mariarita | Uapinyoying, Prech | Dastgir, Jahannaz | Hu, Ying | Dillmann, Allissa | Cookson, Mark R. | ... | Bönnemann, Carsten G.
Annals of Clinical and Translational Neurology, volume 8, issue 11, pages 2184-2198 (2021).
10.1002/acn3.51450
Cited by (8) | Cite | Source
Ethical challenges for a new generation of early-phase pediatric gene therapy trials (journal article)
Iyer, Alexander A. | Saade, Dimah | Bharucha-Goebel, Diana | Foley, A. Reghan | Averion, Gilberto ‘Mike’ | Paredes, Eduardo | Gray, Steven | Bönnemann, Carsten G. | Grady, Christine | Hendriks, Saskia | Rid, Annette
Genetics in Medicine, volume 23, issue 11, pages 2057-2066 (2021).
10.1038/s41436-021-01245-3
Cited by (6) | Cite | Source
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers (journal article)
Reumers, Stacha F.I. | Braun, Frederik | Spillane, Jennifer E. | Böhm, Johann | Pennings, Maartje | Schouten, Meyke | van der Kooi, Anneke J. | Foley, A. Reghan | Bönnemann, Carsten G. | Kamsteeg, Erik-jan | ... | Voermans, Nicol C.
Neurology, volume 97, issue 5 (2021).
10.1212/WNL.0000000000012236
Cited by (10) | Cite | Source
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium (journal article)
van de Locht, Martijn | Donkervoort, Sandra | de Winter, Josine M. | Conijn, Stefan | Begthel, Leon | Kusters, Benno | Mohassel, Payam | Hu, Ying | Medne, Livija | Quinn, Colin | ... | Ottenheijm, Coen A.C.
Journal of Clinical Investigation, volume 131, issue 9 (2021).
10.1172/JCI145700
Cited by (9) | Cite | Source
Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy (journal article)
Le Goff, Laure | Meilleur, Katherine G. | Norato, Gina | Rippert, Pascal | Jain, Minal | Fink, Margaret | Foley, A. Reghan | Waite, Melissa | Donkervoort, Sandra | Bönnemann, Carsten G. | Vuillerot, Carole
Archives of Physical Medicine and Rehabilitation, volume 102, issue 4, pages 604-610 (2021).
10.1016/j.apmr.2020.10.116
Cited by (6) | Cite | Source