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M. Waldrop · SciRah

Researcher profile · Semantic Scholar

M. Waldrop

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M. Waldrop — researcher profile on SciRah

h-index: 15
Works: 52
Citations: 763

Most-cited papers

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes
M. Waldrop, Cassandra Karingada, Michael A Storey, B. Powers +14 more
2020Pediatrics119 citations Open access
Semantic Scholar
Update in Duchenne and Becker muscular dystrophy.
M. Waldrop, K. Flanigan
2019Current Opinion in Neurology89 citations
Semantic Scholar
Current Treatment Options in Neurology—SMA Therapeutics
M. Waldrop, Stephen J. Kolb
2019Current Treatment Options in Neurology58 citations
Semantic Scholar
Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy
Nicolas J. Abreu, M. Waldrop
2020Pediatric Pulmonology46 citations Open access
Semantic Scholar
Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
M. Nizon, V. Laugel, K. Flanigan, M. Pastore +18 more
2019Genetics in Medicine46 citations Open access
Semantic Scholar
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic
M. Waldrop, M. Pastore, Rachel Schrader, Emily Sites +3 more
2019Neuropediatrics37 citations
Semantic Scholar
Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy
M. Waldrop, S. Moore, K. Mathews, B. Darbro +19 more
2022Human Mutation35 citations Open access
Semantic Scholar
Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping
L. Gushchina, E. Frair, N. Rohan, A. Bradley +7 more
2021Human Gene Therapy33 citations Open access
Semantic Scholar
Low-Level Dystrophin Expression Attenuating the Dystrophinopathy Phenotype
M. Waldrop, F. Gumienny, Saleh El Husayni, D. Frank +2 more
2017Neuromuscular Disorders29 citations Open access
Semantic Scholar
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy
D. Koboldt, M. Waldrop, Richard K. Wilson, K. Flanigan
2020Annals of Neurology27 citations
Semantic Scholar
Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests.
N. Miller, L. Alfano, M. Iammarino, A. Connolly +7 more
2020Pediatric Neurology25 citations
Semantic Scholar
Spinal Muscular Atrophy in the Treatment Era.
M. Waldrop, B. Elsheikh
2020Neurologic clinics22 citations
Semantic Scholar
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio.
M. Waldrop, S. Chagat, M. Storey, Alayne P. Meyer +18 more
2023Neuromuscular Disorders21 citations
Semantic Scholar
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review
M. Waldrop, R. ben Yaou, K. Lucas, Ann S. Martin +7 more
2020Journal of Neuromuscular Diseases21 citations
Semantic Scholar
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis
D. Koboldt, R. Kastury, M. Waldrop, Benjamin J. Kelly +9 more
2018Cold Spring Harbor molecular case studies16 citations Open access
Semantic Scholar
A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2
K. Flanigan, T. Vetter, T. Simmons, M. Iammarino +11 more
2022Molecular Therapy: Methods & Clinical Development15 citations Open access
Semantic Scholar
Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications
N. Wein, D. Dunn, M. Waldrop, L. Gushchina +3 more
2021Human Gene Therapy14 citations
Semantic Scholar
Human Mutation
Shen Gu, Chun, Anan Chen, J. Rosenfeld +15 more
202013 citations
Semantic Scholar
Low‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype
M. Waldrop, F. Gumienny, D. Boue, E. C. de los Reyes +3 more
2018American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Validity and Reliability of the Neuromuscular Gross Motor Outcome.
L. Alfano, M. Iammarino, Natalie F. Reash, B. Powers +9 more
2021Pediatric Neurology11 citations
Semantic Scholar
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications
A. Zambon, M. Waldrop, R. Alles, R. Weiss +4 more
2021Neurology11 citations Open access
Semantic Scholar
A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity
K. Flanigan, M. Waldrop, Paul T. Martin, R. Alles +8 more
2021European Journal of Human Genetics10 citations Open access
Semantic Scholar
LATE BREAKING NEWS ORAL PRESENTATION
M. Waldrop, Michael W. Lawlor, T. Vetter, E. Frair +9 more
2020Neuromuscular Disorders7 citations
Semantic Scholar
Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.
M. Waldrop, D. Boue, Emily Sites, K. Flanigan +1 more
2017Pediatric Neurology7 citations Open access
Semantic Scholar
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies
M. Waldrop, J. Amornvit, C. Pierson, D. Boue +1 more
2019Journal of Neuromuscular Diseases6 citations
Semantic Scholar
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2
Nicolas J. Abreu, D. Koboldt, J. Gastier-Foster, A. Dave-Wala +2 more
2019American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
J. De Winter, L. Van de Vondel, Biljana Ermanoska, Alice Monticelli +34 more
2025Genetics in Medicine5 citations
Semantic Scholar
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions
A. Meyer, Jia-Ning Ma, Guy Brock, S. Hashimoto +8 more
2023Muscle and Nerve5 citations
Semantic Scholar
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy
Alayne P. Meyer, Anne M. Connolly, K. Vannatta, N. Hacker +5 more
2023Journal of Neuromuscular Diseases5 citations Open access
Semantic Scholar
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
Stefan Nicolau, Jyoti Malhotra, Maryann M. Kaler, P. Magistrado-Coxen +9 more
2024Journal of Neuromuscular Diseases4 citations Open access
Semantic Scholar
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
J. De Winter, L. Van de Vondel, Biljana Ermanoska, Alice Monticelli +34 more
2024medRxiv2 citations Open access
Semantic Scholar
Candidate gene modifiers of dystrophinopathy identified by the uniform application of genome-wide datasets to novel GWAS-identified loci
K. Flanigan, M. Waldrop, Paul T. Martin, Roxane Alles +8 more
2021medRxiv2 citations Open access
Semantic Scholar
P.140RNA-Seq shows an absence of off-target splicing effects in AAV9-U7snRNA mediated skipping of DMD exon 2
K. Flanigan, N. Wein, L. Gushchina, M. Waldrop +1 more
2019Neuromuscular Disorders2 citations
Semantic Scholar
P.192The 100 meter timed test: responsiveness to change, predicting loss of ambulation, and data-driven phenotypes
L. Alfano, N. Miller, M. Iammarino, M. Moore-Clingenpeel +4 more
2019Neuromuscular Disorders1 citations
Semantic Scholar
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY
L. Alfano, N. Miller, M. Iammarino, K. Berry +9 more
2018Neuromuscular Disorders1 citations
Semantic Scholar
P.412 - Daily versus weekend steroid use in DMD: age at loss of ambulation is equivalent in a retrospective patient cohort
M. Waldrop, J. Kaminoh, M. Moore-Clingenpeel, K. Flanigan
20171 citations
Semantic Scholar
Low‐Level Dystrophin Expression Attenuating the Dystrophinopathy Phenotype
M. Waldrop, F. Gumienny, R. Weiss, K. Flanigan
20171 citations
Semantic Scholar
Unique myopathy presenting in adulthood with proximal muscle weakness and respiratory insufficiency
N. Goyal, M. Waldrop, T. Mozaffar
20151 citations
Semantic Scholar
Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy
Veronica J. Vieland, S. Seok, M. Waldrop, L. Gabel +3 more
2026European Journal of Human Genetics0 citations Open access
Semantic Scholar
0068 Effect of Duchenne muscular dystrophy on sleep-dependent consolidation of episodic memory: Pilot
Chelsea E. Cadle, Tyler A. Busch, M. Waldrop, K. Simon +2 more
2023Sleep0 citations Open access
Semantic Scholar
P.221 Improvement in respiratory and bulbar function in two patients with SMALED2B
A. Meyer, S. Hickey, S. Nicolau, M. Waldrop
2022Neuromuscular Disorders0 citations
Semantic Scholar
Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec
C. Bekircan-Kurt, M. Waldrop, A. Connolly, J. Mendell
2022US Neurology0 citations Open access
Semantic Scholar
P.72 Motor delays are present in most boys with dystrophinopathies in infancy
L. Lowes, N. Reash, N. Iammarino, M. Waldrop +5 more
2022Neuromuscular Disorders0 citations
Semantic Scholar
OUTCOME MEASURES
B. Powers, N. Reash, M. Iammarino, K. Shannon +7 more
2021Neuromuscular Disorders0 citations Open access
Semantic Scholar
An evaluation of onasemnogene abeparvovec for spinal muscular atrophy (SMN1)
M. Waldrop, A. Connolly, J. Mendell
2021Expert Opinion on Orphan Drugs0 citations
Semantic Scholar
AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE
A. Meyer, W. Arnold, M. Waldrop, K. Flanigan
2020Neuromuscular Disorders0 citations
Semantic Scholar
DMD – ANIMAL MODELS & PRECLINICAL TREATMENT
L. Gushchina, E. Frair, N. Rohan, A. Bradley +5 more
2020Neuromuscular Disorders0 citations
Semantic Scholar
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES
A. Meyer, C. Cottrell, S. Reshmi, R. Pfau +11 more
2020Neuromuscular Disorders0 citations
Semantic Scholar
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
M. Nizon, V. Laugel, K. Flanigan, M. Pastore +18 more
2019Genetics in Medicine0 citations Open access
Semantic Scholar
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
M. Nizon, V. Laugel, K. Flanigan, M. Pastore +18 more
2019Genetics in Medicine0 citations Open access
Semantic Scholar

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