Author details

Full Name

Charles E Schwartz

Affiliation

ORCID

Career Start Year

1983

Papers

385

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37292616	Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.	medRxiv	2023
36250278	Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.	Clinical Genetics	2023
36300573	X-Linked intellectual disability update 2022.	American Journal of Medical Genetics, Part A	2023
38040915	Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.	Eur J Hum Genet	2023
37899624	Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.		2023
37092498	Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.	Med Sci (Basel)	2023
37083955	PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.	Dis Model Mech	2023
37445892	Defining the 3'Epigenetic Boundary of the Promoter and Its Loss in Individuals with Fragile X Syndrome.		2023
36797465	Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.		2023
36993381	Eye movement defects in KO zebrafish reveals as a causative gene for an X-linked intellectual disability.		2023
34906476	GM3 synthase deficiency in non-Amish patients.	Genetics in Medicine	2022
35904121	Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.	Hum Mutat	2022
35678782	Rare pathogenic variants in WNK3 cause X-linked intellectual disability.	Genet Med	2022
34992252	Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.	Eur J Hum Genet	2022
34982160	Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16â¿¯579 Newborns by Using a Novel Genomic Workflow.	JAMA network open	2022
34877376	A new test for autism spectrum disorder: Metabolic data from different cell types.	Data in Brief	2021
33637969	Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.	Genetics in Medicine	2021
33847015	Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.	Hum Mutat	2021
33948573	Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.	Cell Reports Medicine	2021
33982428	In search of the earliest images of symmelia in works of art.	American Journal of Medical Genetics, Part C: Seminars in Medical Genetics	2021
33498634	Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.	International Journal of Molecular Sciences	2021
33547396	Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.	Genetics in Medicine	2021
33222679	New Strategies for Clinical Trials in Autism Spectrum Disorder.		2021
33407854	DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.	Clinical Epigenetics	2021
35047860	Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.	HGG Adv	2021
32681719	Schimke XLID syndrome results from a deletion in BCAP31.	American Journal of Medical Genetics, Part A	2020
32266845	Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.	Journal of International Medical Research	2020
32080367	An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.	Eur J Hum Genet	2020
31895056	Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.	Clinical Dysmorphology	2020
31580924	The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.	European Journal of Medical Genetics	2020
32109418	Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.	Am J Hum Genet	2020
31996374	(,)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder-Robinson syndrome.	Journal of Biological Chemistry	2020
31814248	Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.	Am J Med Genet A	2020
31705537	X-linked intellectual disability: Phenotypic expression in carrier females.	Clinical Genetics	2020
32439070	The Future of Clinical Diagnosis: Moving Functional Genomics Approaches to the Bedside.	Clinics in Laboratory Medicine	2020
31701662	Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.	Molecular genetics & genomic medicine	2020
32703943	Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.	Nat Commun	2020
32591507	Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression.	Nat Commun	2020
30929737	Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.	Am J Hum Genet	2019
31691806	Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.	Hum Mol Genet	2019
30190612	Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.	Genet Med	2019
30179896	UBE2A-related X-linked intellectual disability.	Clinical Dysmorphology	2019
30985297	ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.	Journal of Clinical Investigation	2019
31474318	Redefining the Etiologic Landscape of Cerebellar Malformations.	Am J Hum Genet	2019
30729724	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.	Mol Genet Genomic Med	2019
31512387	An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.	Am J Med Genet A	2019
29358613	Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.	European Journal of Human Genetics	2018
30459321	BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.	Nat Commun	2018
30544565	Polyamine Homeostasis in Snyder-Robinson Syndrome.		2018
29267967	FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.	Human Molecular Genetics	2018