Works by Schwartz, Charles E
Results: 94
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
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- Article
Skewed X-inactivation and Females with Intellectual Disability.
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- Human Mutation, 2016, v. 37, n. 8, p. 717, doi. 10.1002/humu.23030
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- Article
Personal journeys to and in human genetics and dysmorphology.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
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- Article
X‐Linked intellectual disability update 2022.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008
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- Article
Schimke XLID syndrome results from a deletion in BCAP31.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2168, doi. 10.1002/ajmg.a.61755
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- Article
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 595, doi. 10.1002/ajmg.a.61443
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- Article
An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2357, doi. 10.1002/ajmg.a.61353
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- Article
X‐linked intellectual disability update 2017.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1375, doi. 10.1002/ajmg.a.38710
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- Article
Finding new etiologies of mental retardation and hypotonia: X marks the spot.
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- Developmental Medicine & Child Neurology, 2008, v. 50, n. 2, p. 104, doi. 10.1111/j.1469-8749.2007.02022.x
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- Article
X-linked creatine transporter ( SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
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- Human Genetics, 2006, v. 119, n. 6, p. 604, doi. 10.1007/s00439-006-0162-9
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- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
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- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Article
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.
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- Human Genetics, 2000, v. 106, n. 1, p. 36, doi. 10.1007/s004390051006
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- Article
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036
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- Article
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.569
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- Article
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.
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- Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 4, p. 232, doi. 10.1002/aur.87
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- Article
Impact of cadaver dissection: Working toward solutions.
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- Anatomical Sciences Education, 2008, v. 1, n. 6, p. 269, doi. 10.1002/ase.54
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- Article
Computational analysis of missense mutations causing Snyder-Robinson syndrome.
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- Human Mutation, 2010, v. 31, n. 9, p. 1043, doi. 10.1002/humu.21310
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- Article
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
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- Human Mutation, 2010, v. 31, n. 1, p. 90, doi. 10.1002/humu.21146
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- Article
Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.
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- Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532
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- Article
Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences.
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- Human Mutation, 2004, v. 23, n. 6, p. 582, doi. 10.1002/humu.20048
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- Article
Mutations in the X-linked RSK2 gene ( RPS6KA3) in patients with Coffin-Lowry syndrome.
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- Human Mutation, 2001, v. 17, n. 2, p. 103, doi. 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N
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- Article
Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
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- Human Mutation, 1998, v. 11, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1998)11:3<222::AID-HUMU7>3.0.CO;2-J
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- Article
A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.
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- Journal of Human Genetics, 2010, v. 55, n. 9, p. 627, doi. 10.1038/jhg.2010.70
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- Article
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.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1516, doi. 10.1093/hmg/ddt002
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- Article
Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
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- Human Molecular Genetics, 2012, v. 21, n. 22, p. 4930, doi. 10.1093/hmg/dds336
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- Article
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
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- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4497, doi. 10.1093/hmg/dds292
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- Article
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
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- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1019, doi. 10.1093/hmg/ddi094
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- Article
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.
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- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0168-2
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- Article
Sleep Derivation and Performance of Residents.
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- 1989
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- Letter
BOOK NOTES.
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- 2000
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- Book Review
Parting Company (Book).
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- 2000
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- Book Review
Letters.
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- 1994
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- Publication type:
- Letter
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
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- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2015.00083
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- Article
A novel approach to metabolic profiling in case models of MECP2-related disorders.
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- Metabolic Brain Disease, 2025, v. 40, n. 2, p. 1, doi. 10.1007/s11011-025-01546-5
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- Article
Protein sector analysis for the clustering of disease-associated mutations.
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- BMC Genomics, 2014, v. 15, p. 1, doi. 10.1186/1471-2164-15-S11-S4
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- Article
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders.
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- Medical Sciences, 2023, v. 11, n. 2, p. 29, doi. 10.3390/medsci11020029
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- Article
Polyamine Homeostasis in Snyder-Robinson Syndrome.
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- Medical Sciences, 2018, v. 6, n. 4, p. 112, doi. 10.3390/medsci6040112
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- Article
Medical Residents' Perceptions of End-of-Life Care Training in a Large Urban Teaching Hospital.
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- Journal of Palliative Medicine, 2003, v. 6, n. 1, p. 37, doi. 10.1089/10966210360510109
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- Article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7
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- Article
Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes.
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- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116454
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- Article
Community outreach to patients with AIDS at the end of life in the inner city: reflections from the trenches.
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- 2004
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- Publication type:
- journal article
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
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- JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911
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- Article
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
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- Article
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 173, doi. 10.1111/cge.14445
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- Article
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
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- Article
X‐linked intellectual disability: Phenotypic expression in carrier females.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667
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- Article
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 310, doi. 10.1038/ejhg.2012.175
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- Article
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1311, doi. 10.1038/ejhg.2012.61
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- Article
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114
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- Article
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97
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- Article