Schwartz, Charles E.

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

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

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

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

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

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 582

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 559

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

Boccuto, L., Lauri, M., Sarasua, S. M., Skinner, C. D., Buccella, D., Dwivedi, A., Orteschi, D., Collins, J. S., Zollino, M., Visconti, P., et al. (2013) · European Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 240

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., et al. (2008) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 232

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Aref-Eshghi, E., Bend, E. G., Colaiacovo, S., Caudle, M., Chakrabarti, R., Napier, M., Brick, L., Brady, L., Carere, D. A., Levy, M. A., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesEpigenetics and DNA Methylation

Cited by 201

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 193

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

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Boccuto, L., Aoki, K., Flanagan-Steet, H., Chen, C.-F., Fan, X., Bartel, F., Petukh, M., Pittman, A., Saul, R., Chaubey, A., et al. (2014) · Human Molecular Genetics

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 182

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 176

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

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

Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Tarpey, P. S., Stevens, C., Teague, J., Edkins, S., O’Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., et al. (2006) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersCellular transport and secretion

Cited by 123

X-linked intellectual disability update 2017

Neri, G., Schwartz, C. E., Lubs, H. A., & Stevenson, R. E. (2018) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 117

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families

Hettinger, J. A., Liu, X., Hudson, M. L., Lee, A., Cohen, I. L., Michaelis, R. C., Schwartz, C. E., Lewis, S. M., & Holden, J. J. (2012) · Behavioral and Brain Functions

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 68

GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors

Chiu, S.-L., Diering, G. H., Ye, B., Takamiya, K., Chen, C.-M., Jiang, Y., Niranjan, T., Schwartz, C. E., Wang, T., & Huganir, R. L. (2017) · Neuron

Neuroscience and Neuropharmacology ResearchCellular transport and secretion

Cited by 66

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

Jackson, P. B., Boccuto, L., Skinner, C., Collins, J. S., Neri, G., Gurrieri, F., & Schwartz, C. E. (2009) · Autism Research

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 65

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Birnbaum, R. Y., Everman, D. B., Murphy, K. K., Gurrieri, F., Schwartz, C. E., & Ahituv, N. (2012) · Human Molecular Genetics

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 63

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration

Hirose, T., Cabrera-Socorro, A., Chitayat, D., Lemonnier, T., Féraud, O., Cifuentes-Diaz, C., Gervasi, N., Mombereau, C., Ghosh, T., Stoica, L., et al. (2019) · Journal of Clinical Investigation

ATP Synthase and ATPases ResearchAutophagy in Disease and Therapy

Cited by 55

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge, C., Gardner, A., Schwartz, C. E., Hackett, A., Field, M., & Gecz, J. (2012) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 10

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

Kim, C.-H., Lee, Y.-R., Thomas, M., Roychaudhury, A., Skinner, C., Maconachie, G., Crosier, M., Horak, H., Constantinescu, C., Choi, T.-I., et al. (2023) · Research Square

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 3