Concepedia
Statistics
Publications
4
Citations
302
H-Index
Active since
2002
Affiliations
Inserm(Current)
Centre National de la Recherche Scientifique
Spectrum Health
Munich Cluster for Systems Neurology
Columbia University
Gretchen Parsons is an author at Inserm specializing in medicine, neurology, and genetics.
Top concepts
MedicineGeneticsNeurologyNeurogeneticsBrain DevelopmentPathologyNeuroscienceNeuroimmunologySocial SciencesFragile X Spectrum
Publications per year
2002–2021
Genotype–phenotype correlations in X-linked myotubular myopathy
Meriel McEntagart, Gretchen Parsons, Anna Buj‐Bello et al. · Neuromuscular Disorders · 2002 · 151 citations
Genetic Disorder, Genetics, Genotype–phenotype Correlations +2
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 98 citations · Full text
Developmental Anomaly, Pathogenic Sptbn1 Variants, Brain Development +7
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Erin Torti, Boris Keren, Elizabeth E. Palmer et al. · Genetics in Medicine · 2019 · 39 citations · Full text
Neurodevelopmental Disorders, New Patients, Mendelian Disorder +11
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser et al. · Genetics in Medicine · 2020 · 14 citations · Full text
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