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C. Skinner · SciRah

Researcher profile · Semantic Scholar

C. Skinner

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C. Skinner — researcher profile on SciRah

h-index: 38
Works: 94
Citations: 6,732

Most-cited papers

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
H. Mefford, A. Sharp, C. Baker, A. Itsara +80 more
2008New England Journal of Medicine706 citations Open access
Semantic Scholar
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
P. Tarpey, Raffaella Smith, E. Pleasance, Annabel C. Whibley +75 more
2009Nature Genetics637 citations Open access
Semantic Scholar
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
A. Sharp, H. Mefford, Kelly E. Li, C. Baker +30 more
2008Nature Genetics575 citations Open access
Semantic Scholar
Autism and maternally derived aberrations of chromosome 15q.
R. Schroer, M. Phelan, R. Michaelis, E. Crawford +7 more
1998American journal of medical genetics375 citations
Semantic Scholar
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
P. Tarpey, F. Raymond, L. Nguyen, Jayson D. Rodriguez +53 more
2007Nature Genetics290 citations Open access
Semantic Scholar
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Maila Giannandrea, V. Bianchi, M. L. Mignogna, Alessandra Sirri +19 more
2010American Journal of Human Genetics242 citations Open access
Semantic Scholar
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
S. Ben-Shachar, B. Lanpher, J. German, M. Qasaymeh +20 more
2009Journal of Medical Genetics224 citations Open access
Semantic Scholar
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
L. Boccuto, M. Lauri, S. Sarasua, C. Skinner +13 more
2012European Journal of Human Genetics221 citations Open access
Semantic Scholar
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
C. Schwartz, P. Tarpey, H. Lubs, A. Verloes +16 more
2007Journal of Medical Genetics180 citations Open access
Semantic Scholar
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
A. Cason, Yoshihiko Ikeguchi, C. Skinner, T. Wood +7 more
2003European Journal of Human Genetics173 citations
Semantic Scholar
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
E. Aref-Eshghi, D. Rodenhiser, L. Schenkel, Hanxin Lin +10 more
2018American Journal of Human Genetics167 citations Open access
Semantic Scholar
Neurexin 1alpha structural variants associated with autism.
Jin Yan, Katie Noltner, Ji-Nong Feng, Wen-Yan Li +5 more
2008Neuroscience Letters163 citations
Semantic Scholar
Decreased tryptophan metabolism in patients with autism spectrum disorders
L. Boccuto, Chin-Fu Chen, A. Pittman, C. Skinner +5 more
2013Molecular Autism159 citations Open access
Semantic Scholar
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, J. Rosenfeld +52 more
2018Genetics in Medicine156 citations Open access
Semantic Scholar
Autism and macrocephaly.
R. Stevenson, R. Schroer, C. Skinner, D. Fender +1 more
1997The Lancet150 citations
Semantic Scholar
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
H. Mefford, Gregory M. Cooper, Troy Zerr, Joshua D. Smith +7 more
2009Genome Research144 citations Open access
Semantic Scholar
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Annabel C. Whibley, V. Plagnol, P. Tarpey, F. Abidi +20 more
2010American Journal of Human Genetics134 citations Open access
Semantic Scholar
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
M. Shinawi, T. Sahoo, B. Maranda, Steven A. Skinner +7 more
2011American Journal of Medical Genetics. Part A103 citations
Semantic Scholar
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism
R. Mejías, Abby Adamczyk, V. Anggono, T. Niranjan +11 more
2011Proceedings of the National Academy of Sciences of the United States of America100 citations Open access
Semantic Scholar
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C
D. Grafodatskaya, B. H. Chung, D. Butcher, A. Turinsky +15 more
2013BMC Medical Genomics99 citations Open access
Semantic Scholar
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability
K. Vaidyanathan, T. Niranjan, N. Selvan, C. Teo +14 more
2017Journal of Biological Chemistry98 citations Open access
Semantic Scholar
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
E. Aref-Eshghi, L. Schenkel, Hanxin Lin, C. Skinner +5 more
2017Epigenetics92 citations Open access
Semantic Scholar
eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation
G. Borck, B. Shin, Barbara Stiller, A. Mimouni-Bloch +20 more
2012Molecules and Cells92 citations Open access
Semantic Scholar
Analysis of the neuroligin 4Y gene in patients with autism
Jin Yan, Ji-Nong Feng, R. Schroer, Wen-Yan Li +4 more
2008Psychiatric Genetics81 citations
Semantic Scholar
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
Pamela B. Jackson, L. Boccuto, C. Skinner, J. S. Collins +3 more
2009Autism Research74 citations
Semantic Scholar
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
L. Schenkel, K. Kernohan, A. McBride, Ditta Reina +9 more
2017Epigenetics & Chromatin69 citations Open access
Semantic Scholar
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
L. Schenkel, E. Aref-Eshghi, C. Skinner, P. Ainsworth +5 more
2018Clinical Epigenetics66 citations Open access
Semantic Scholar
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth +32 more
2020Nature Communications64 citations Open access
Semantic Scholar
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
M. Friez, S. Brooks, R. Stevenson, M. Field +20 more
2016BMJ Open59 citations Open access
Semantic Scholar
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
M. May, Kyu-Seok Hwang, J. Miles, Charlie Williams +21 more
2015Human Molecular Genetics59 citations Open access
Semantic Scholar
Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes
T. Niranjan, C. Skinner, M. May, Tychele N. Turner +4 more
2015PLoS ONE59 citations Open access
Semantic Scholar
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Lauren Cascio, Chin-Fu Chen, R. Pauly, Sujata Srikanth +5 more
2019Molecular Genetics & Genomic Medicine56 citations Open access
Semantic Scholar
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Yoshimi Inaba, C. Schwartz, Q. M. Bui, Xin Li +11 more
2014Clinical Chemistry56 citations
Semantic Scholar
Absence of MeCP2 mutations in patients from the South Carolina autism project
Fe Lobo-Menendez, K. Sossey-Alaoui, J. M. Bell, Susan A. Copeland-Yates +6 more
2003American Journal of Medical Genetics Part B: Neuropsychiatric Genetics55 citations
Semantic Scholar
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Patrícia B. S. Celestino-Soper, C. Skinner, R. Schroer, Patricia A. Eng +15 more
2012Molecular Cytogenetics51 citations Open access
Semantic Scholar
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.
E. Aref-Eshghi, L. Schenkel, Hanxin Lin, C. Skinner +6 more
2017Journal of Molecular Diagnostics45 citations Open access
Semantic Scholar
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism
Karl J. Franek, J. Butler, John P. Johnson, R. Simensen +9 more
2011American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
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
Semantic Scholar
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.
L. Schenkel, C. Schwartz, C. Skinner, D. Rodenhiser +3 more
2016Journal of Molecular Diagnostics35 citations Open access
Semantic Scholar
Lysosomal Cholesterol Accumulation Contributes to the Movement Phenotypes Associated with NUS1 Haploinsufficiency
Seok-Ho Yu, Tong Wang, Kali J Wiggins, Raymond J. Louie +10 more
2021Genetics in Medicine33 citations Open access
Semantic Scholar
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
D. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker +18 more
2022JAMA Network Open31 citations Open access
Semantic Scholar
Hypothesis: Dysregulation of methylation of brain‐expressed genes on the X chromosome and autism spectrum disorders
Julie R. Jones, C. Skinner, M. Friez, Charles E. Schwartz +1 more
2008American Journal of Medical Genetics. Part A31 citations
Semantic Scholar
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis
J. Piard, Jia-Hua Hu, Philippe M. Campeau, S. Rzonca +18 more
2018Human Molecular Genetics29 citations Open access
Semantic Scholar
Recurrent duplications of 17q12 associated with variable phenotypes
E. Mitchell, Andrew Douglas, Susanne Kjaegaard, B. Callewaert +28 more
2015American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
X‐Linked intellectual disability update 2022
C. Schwartz, Raymond J. Louie, A. Toutain, C. Skinner +2 more
2022American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Lise-Marie Donnio, B. Bidon, S. Hashimoto, M. May +13 more
2017Human Molecular Genetics23 citations
Semantic Scholar
Human genome meeting 2016
A. K. Srivastava, Y. Wang, R. Huang, C. Skinner +496 more
2016Human Genomics23 citations Open access
Semantic Scholar
Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism.
Maxwell B. Colonna, Tonya Moss, Sneha S. Mokashi, Sujata Srikanth +12 more
2022Human Molecular Genetics22 citations Open access
Semantic Scholar
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
D. Godler, Yoshimi Inaba, E. Shi, C. Skinner +8 more
2013Human Molecular Genetics22 citations Open access
Semantic Scholar
Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
Yoshimi Inaba, A. Herlihy, C. Schwartz, C. Skinner +16 more
2012Genetics in Medicine22 citations Open access
Semantic Scholar

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