S. Skinner

Most-cited papers

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
T. Haack, P. Hogarth, M. Kruer, A. Gregory +29 more
2012American Journal of Human Genetics359 citations Open access
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Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome
V. Cuddapah, R. Pillai, K. Shekar, J. Lane +9 more
2014Journal of Medical Genetics312 citations Open access
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β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
S. Hayflick, M. Kruer, A. Gregory, T. Haack +34 more
2013Brain : a journal of neurology201 citations Open access
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Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women with Rett Syndrome
K. Motil, Erwin Caeg, Judy O. Barrish, Suzanne P. Geerts +8 more
2012Journal of Pediatric Gastroenterology and Nutrition - JPGN186 citations Open access
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, Groupe di France +65 more
2021American Journal of Human Genetics172 citations Open access
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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
B. Sadikovic, M. Levy, J. Kerkhof, E. Aref-Eshghi +22 more
2021Genetics in Medicine169 citations Open access
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, M. Barat-Houari +64 more
2020American Journal of Human Genetics155 citations Open access
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
M. Levy, H. McConkey, J. Kerkhof, M. Barat-Houari +83 more
2021HGG advances152 citations Open access
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Developmental delay in Rett syndrome: data from the natural history study
J. Neul, J. Lane, Hye-Seung Lee, Suzanne P. Geerts +9 more
2014Journal of Neurodevelopmental Disorders148 citations Open access
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A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
J. Gentile, W. Tan, Lucia T. Horowitz, C. Bacino +10 more
2010Journal of Developmental and Behavioral Pediatrics147 citations Open access
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Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Alan K. Percy, J. Neul, D. Glaze, K. Motil +9 more
2010Annals of Neurology128 citations Open access
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Angelman Syndrome: Mutations Influence Features in Early Childhood
W. Tan, C. Bacino, S. Skinner, I. Anselm +15 more
2011American Journal of Medical Genetics. Part A126 citations Open access
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Longitudinal course of epilepsy in Rett syndrome and related disorders
D. Tarquinio, W. Hou, A. Berg, W. Kaufmann +6 more
2017Brain : a journal of neurology119 citations Open access
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The changing face of survival in Rett syndrome and MECP2-related disorders
D. Tarquinio, W. Hou, J. Neul, W. Kaufmann +5 more
2015Pediatric Neurology111 citations Open access
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, J. Rousseau, Joanna Twist, Sophie Ehresmann +75 more
2018Nature Communications104 citations Open access
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Growth failure and outcome in Rett syndrome
D. Tarquinio, K. Motil, W. Hou, Hye-Seung Lee +9 more
2012Neurology104 citations Open access
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Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome
M. McCauley, Tian-Nan Wang, Elise Mike, Jose A. Herrera +8 more
2011Science Translational Medicine92 citations Open access
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Clinical severity and quality of life in children and adolescents with Rett syndrome
J. Lane, Hye-Seung Lee, L. Smith, P. Cheng +12 more
2011Neurology90 citations Open access
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The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2
J. Neul, T. Benke, E. Marsh, S. Skinner +12 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics86 citations Open access
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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A. Knaus, J. Pantel, M. Pendziwiat, Nurulhuda Hajjir +32 more
2017Genome Medicine81 citations Open access
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Noonan Syndrome in Diverse Populations
P. Kruszka, A. R. Porras, Y. Addissie, A. Moresco +58 more
2017American Journal of Medical Genetics. Part A80 citations Open access
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The course of awake breathing disturbances across the lifespan in Rett syndrome
D. Tarquinio, W. Hou, J. Neul, Gamze Kilic Berkmen +9 more
2018Brain & development (Tokyo. 1979)78 citations Open access
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Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2
Samin A. Sajan, S. Jhangiani, D. Muzny, R. Gibbs +9 more
2016Genetics in Medicine78 citations Open access
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
J. Kerkhof, Cassandra Rastin, M. Levy, R. Relator +31 more
2024Genetics in Medicine73 citations Open access
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Profiling Scoliosis in Rett Syndrome
A. Percy, Hye-Seung Lee, J. Neul, J. Lane +8 more
2010Pediatric Research69 citations Open access
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Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis
D. Tarquinio, W. Hou, J. Neul, J. Lane +12 more
2015Pediatric Neurology64 citations Open access
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Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors
J. Killian, J. Lane, Hye-Seung Lee, S. Skinner +4 more
2017Pediatric Neurology63 citations Open access
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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
M. Levy, R. Relator, H. McConkey, Erinija Pranckevičienė +88 more
2022Human Mutation60 citations Open access
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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
E. Berry-Kravis, J. Horrigan, N. Tartaglia, R. Hagerman +19 more
2017Pediatric Neurology56 citations Open access
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Lessons learned from 40 novel PIGA subjects and a review of the literature.
A. Bayat, A. Knaus, M. Pendziwiat, A. Afenjar +50 more
2020Epilepsia54 citations Open access
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MEF2C hypofunction in neuronal and neuroimmune populations produces MEF2C haploinsufficiency syndrome-like behaviors in mice
A. J. Harrington, C. Bridges, Stefano Berto, K. Blankenship +11 more
2020Biological Psychiatry54 citations Open access
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Behavioral profiles in Rett syndrome: Data from the Natural History Study
C. Buchanan, Jennifer L. Stallworth, Alexandra E. Scott, D. Glaze +6 more
2018Brain & development (Tokyo. 1979)51 citations Open access
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Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome
S. Peters, C. Fu, B. Suter, E. Marsh +13 more
2019Clinical Genetics50 citations Open access
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, J. Rousseau, Joanna Twist, Sophie Ehresmann +75 more
2018Nature Communications48 citations Open access
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A Therapeutic Trial of Pro-methylation Dietary Supplements in Angelman Syndrome
L. Bird, W. Tan, C. Bacino, S. Peters +13 more
2011American Journal of Medical Genetics. Part A48 citations Open access
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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
A. Knaus, Tomonari Awaya, I. Helbig, Z. Afawi +15 more
2016Human Mutation44 citations Open access
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Vitamin D Deficiency is Prevalent in Females with Rett Syndrome
K. Motil, Judy O. Barrish, J. Lane, Suzanne P. Geerts +6 more
2011Journal of Pediatric Gastroenterology and Nutrition - JPGN44 citations Open access
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Neurobiologically-based treatments in Rett syndrome: opportunities and challenges
W. Kaufmann, Jennifer L. Stallworth, D. Everman, S. Skinner
2016Expert Opinion on Orphan Drugs42 citations Open access
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Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors
J. Killian, J. Lane, Hye-Seung Lee, J. Pelham +5 more
2016Pediatric Neurology42 citations Open access
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Pubertal Development in Rett Syndrome Deviates from Typical Females
J. Killian, J. Lane, G. Cutter, S. Skinner +6 more
2014Pediatric Neurology40 citations Open access
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A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
M. Raspa, C. Bann, A. Gwaltney, T. Benke +14 more
2020American Journal on Intellectual and Developmental Disabilities39 citations Open access
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Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases
M. Iqbal, U. Broeckel, B. Levy, S. Skinner +10 more
2023Journal of Molecular Diagnostics38 citations Open access
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Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
J. Neul, T. Benke, Eric D. Marsh, B. Suter +12 more
2023Journal of Neurodevelopmental Disorders37 citations Open access
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
E. Torti, B. Keren, Elizabeth E. Palmer, Zehua Zhu +49 more
2019Genetics in Medicine37 citations Open access
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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
F. Cristofoli, Tonya Moss, H. Moore, K. Devriendt +16 more
2020American Journal of Human Genetics34 citations Open access
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Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings
J. Neul, S. Skinner, Fran Annese, J. Lane +5 more
2020Frontiers in Integrative Neuroscience33 citations Open access
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Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes
Olivia J. Veatch, B. Malow, Hye-Seung Lee, A. Knight +18 more
2021bioRxiv31 citations Open access
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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
J. Bain, Olivia Thornburg, Cheryl Pan, D. Rome-Martin +18 more
2021Neurology: Genetics29 citations Open access
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A Randomized Controlled Trial of Levodopa in Patients with Angelman Syndrome
W. Tan, L. Bird, A. Sadhwani, R. Barbieri-Welge +21 more
2017American Journal of Medical Genetics. Part A29 citations Open access
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Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
C. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon +17 more
2022Journal of Neurodevelopmental Disorders28 citations Open access
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