C. Skinner

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

C. Skinner, C. Schwartz, G. Paré, 2018, Clinical Epigenetics.

Autism and macrocephaly

C. Skinner, R. Stevenson, R. Simensen, 1997, The Lancet.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

C. Skinner, C. Schwartz, G. Paré, 2017, Epigenetics & Chromatin.

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

C. Skinner, R. Stevenson, C. Schwartz, 2019, Molecular genetics & genomic medicine.

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

J. Gécz, P. Tarpey, C. Skinner, 2019, Molecular genetics & genomic medicine.

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome

Ankita Patel, A. Beaudet, C. Skinner, 2012, American journal of medical genetics. Part A.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Shannon K. Stefl, Cheol‐Hee Kim, P. Tarpey, 2015, Human molecular genetics.

Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

C. Skinner, R. Stevenson, C. Schwartz, 2019, American journal of medical genetics. Part A.

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

C. Skinner, R. Stevenson, C. Schwartz, 2011, American journal of medical genetics. Part A.

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

C. Skinner, C. Schwartz, G. Paré, 2017, The Journal of molecular diagnostics : JMD.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

M. Shaw, J. Gécz, P. Tarpey, 2016, BMJ Open.

X‐Linked intellectual disability update 2022

C. Skinner, R. Stevenson, C. Schwartz, 2022, American journal of medical genetics. Part A.

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

J. Hopper, C. Skinner, C. Schwartz, 2015, Expert Reviews in Molecular Medicine.

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

C. Skinner, C. Schwartz, F. Faucz, 2011, American journal of medical genetics. Part A.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

M. Stratton, P. Futreal, S. Edkins, 2007, Journal of Medical Genetics.

Craniofacioskeletal syndrome: An X‐linked dominant disorder with early lethality in males

A. Reiss, S. Kesler, C. Skinner, 2007, American journal of medical genetics. Part A.

Decreased tryptophan metabolism in patients with autism spectrum disorders

Luigi Boccuto, C. Skinner, R. Stevenson, 2013, Molecular Autism.

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

Ankita Patel, Marwan Shinawi, Ankita Patel, 2011, American journal of medical genetics. Part A.

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

Tao Wang, Emil Alexov, Brent Weatherly, 2017, The Journal of Biological Chemistry.

Autistic Disorder: A 20 Year Chronicle

C. Skinner, R. Stevenson, S. Skinner, 2020, Journal of autism and developmental disorders.

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

C. Skinner, R. Stevenson, C. Schwartz, 2003, European Journal of Human Genetics.

High frequency of neurexin 1β signal peptide structural variants in patients with autism

Charles E. Schwartz, Edwin H. Cook, Jin Yan, 2006, Neuroscience Letters.

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Deborah A Nickerson, Gregory M Cooper, Carl Baker, 2009, Genome research.

Neurexin 1α structural variants associated with autism

C. Skinner, C. Schwartz, S. Sommer, 2008, Neuroscience Letters.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

R. Huganir, C. Skinner, R. Stevenson, 2011, Proceedings of the National Academy of Sciences.

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder

Luigi Boccuto, C. Skinner, G. Neri, 2009, Autism research : official journal of the International Society for Autism Research.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Paola Visconti, Marcella Zollino, Luigi Boccuto, 2012, European Journal of Human Genetics.

Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

Donna M. Martin, Jun Z. Li, C. Skinner, 2012, Journal of Medical Genetics.

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

C. Skinner, K. Aoki, M. Tiemeyer, 2022, JIMD Reports.

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts

C. Skinner, U. Broeckel, S. Skinner, 2022, medRxiv.

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis

C. Skinner, U. Broeckel, B. Levy, 2021, medRxiv.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Cheol‐Hee Kim, C. Skinner, R. Stevenson, 2020, Nature Communications.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.

C. Skinner, C. Schwartz, G. Paré, 2016, The Journal of molecular diagnostics : JMD.

Autistic Disorder: A 20 Year Chronicle

C. Skinner, R. Stevenson, S. Skinner, 2020, Journal of Autism and Developmental Disorders.

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

C. Skinner, S. Skinner, R. Deason, 1997, American journal of medical genetics.

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

D. Loesch, J. Hopper, C. Skinner, 2014, Clinical chemistry.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.

C. Skinner, U. Broeckel, S. Skinner, 2023, The Journal of molecular diagnostics : JMD.

J. Gécz, A. Epanchintsev, C. Skinner, 2017, Human molecular genetics.

gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

M. Stratton, S. Edkins, J. Teague, 2008 .

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Hanxin Lin, Bekim Sadikovic, Kym M Boycott, 2018, American journal of human genetics.

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

C. Skinner, R. Stevenson, C. Schwartz, 2021, International journal of molecular sciences.

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

C. Skinner, C. Schwartz, G. Paré, 2017, Epigenetics.

Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities

C. Skinner, C. Schwartz, G. Sullivan, 2021, Cell reports. Medicine.

Increased p53 signaling impairs neural differentiation causing HUWE1-promoted intellectual disabilities

C. Skinner, C. Schwartz, E. Alexov, 2020, bioRxiv.

Hypothesis: Dysregulation of methylation of brain‐expressed genes on the X chromosome and autism spectrum disorders

C. Skinner, R. Stevenson, C. Schwartz, 2008, American journal of medical genetics. Part A.

Research Review Hypothesis: Dysregulation of Methylation of Brain- Expressed Genes on the X Chromosome and Autism Spectrum Disorders

C. Skinner, R. Stevenson, C. Schwartz, 2008 .

Absence of MeCP2 mutations in patients from the South Carolina autism project

C. Skinner, K. Sossey-Alaoui, R. Simensen, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Autism and maternally derived aberrations of chromosome 15q.

M. Cuccaro, C. Skinner, R. Stevenson, 1998, American journal of medical genetics.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

C. Skinner, R. Stevenson, C. Schwartz, 2015, PloS one.

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. Loesch, J. Hopper, C. Skinner, 2013, Human molecular genetics.

D. Loesch, J. Hopper, C. Skinner, 2012, Genetics in Medicine.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

J. Gécz, C. Skinner, C. Schwartz, 2010, American journal of human genetics.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

C. Skinner, M. Butler, M. Field, 2022, JAMA network open.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

A. Munnich, C. Skinner, C. Schwartz, 2012, Molecular cell.

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

C. Skinner, R. Stevenson, Lei Cao, 2018, Biology.

A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

C. Skinner, Marilyn C. Jones, T. Brandt, 2022, Gene Reports.

Lysosomal Cholesterol Accumulation Contributes to the Movement Phenotypes Associated with NUS1 Haploinsufficiency

Dillon Y. Chen, C. Skinner, M. Cassera, 2021, Genetics in Medicine.

Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures

C. Skinner, W. Kaufmann, L. Oberman, 2021, Clinical genetics.

Analysis of the neuroligin 4Y gene in patients with autism

E. Cook, C. Skinner, C. Schwartz, 2008, Psychiatric genetics.

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

C. Skinner, R. Stevenson, C. Schwartz, 2023, European Journal of Human Genetics.

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Andrei L. Turinsky, Yi-An Chen, Rosanna Weksberg, 2013, BMC Medical Genomics.

Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c.109C>T (p.R37X)

M. King, C. Skinner, R. Stevenson, 2015, Clinical genetics.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Síndrome de Rett: Reporte de un caso y revisión de la literatura Rett syndrome case presentation and review.

C. Skinner, M. Friez, K. Holden, 2005 .

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

S. Robertson, P. Tarpey, C. Skinner, 2022, European Journal of Human Genetics.

Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder

C. Skinner, R. Stevenson, C. Schwartz, 2021, Research in Autism Spectrum Disorders.

Schimke XLID syndrome results from a deletion in BCAP31.

C. Skinner, R. Stevenson, C. Schwartz, 2020, American journal of medical genetics. Part A.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism

C. Skinner, R. Stevenson, M. Friez, 2000, Journal of autism and developmental disorders.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

D. Hoffman, P. Worley, C. Skinner, 2018, Human molecular genetics.

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

M. Bamshad, C. Skinner, K. Artinger, 2022, medRxiv.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

Mervyn G. Thomas, C. Skinner, I. Gottlob, 2023, Research square.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism.

C. Skinner, K. Sossey-Alaoui, R. Michaelis, 2001, American journal of medical genetics.

Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

C. Skinner, W. Kaufmann, L. Oberman, 2023, Clinical genetics.

A new test for autism spectrum disorder: Metabolic data from different cell types

C. Skinner, R. Stevenson, C. Schwartz, 2021, Data in Brief.

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

C. Skinner, D. Francis, D. Amor, 2023, International journal of molecular sciences.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

C. Skinner, C. Schwartz, G. Paré, 2018, American journal of human genetics.

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

C. Skinner, C. Schwartz, F. Faucz, 2011, American journal of medical genetics. Part A.