Charles E. Schwartz

Active 1986–2025

131
Papers
21,397
Citations
93
h-index
129
i10-index

Citations

Citations per year for Charles E. Schwartz1933: 1 citations1981: 1 citations1987: 8 citations1988: 6 citations1989: 3 citations1990: 7 citations1991: 5 citations1992: 21 citations1993: 29 citations1994: 33 citations1995: 21 citations1996: 25 citations1997: 35 citations1998: 57 citations1999: 60 citations2000: 62 citations2001: 48 citations2002: 49 citations2003: 61 citations2004: 74 citations2005: 72 citations2006: 113 citations2007: 138 citations2008: 188 citations2009: 297 citations2010: 331 citations2011: 275 citations2012: 230 citations2013: 254 citations2014: 221 citations2015: 214 citations2016: 170 citations2017: 144 citations2018: 186 citations2019: 590 citations2020: 643 citations2021: 673 citations2022: 517 citations2023: 339 citations2024: 591 citations2025: 206 citations2026: 2 citations1934–1980: no citations, so these years are not shown1982–1986: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,694 citing papers, 26.9% of this breakdownUnited Kingdom: 808 citing papers, 8.1% of this breakdownCanada: 580 citing papers, 5.8% of this breakdownGermany: 573 citing papers, 5.7% of this breakdownFrance: 543 citing papers, 5.4% of this breakdownNetherlands: 469 citing papers, 4.7% of this breakdownChina: 456 citing papers, 4.5% of this breakdownItaly: 446 citing papers, 4.4% of this breakdownAustralia: 386 citing papers, 3.8% of this breakdownJapan: 243 citing papers, 2.4% of this breakdownSpain: 239 citing papers, 2.4% of this breakdownBelgium: 208 citing papers, 2.1% of this breakdown
0%26.9%Other 23.8%

Fields

  • Biochemistry, Genetics and Molecular Biology63.8%
  • Medicine18%
  • Neuroscience12.7%
  • Agricultural and Biological Sciences2.9%
  • Immunology and Microbiology0.9%
  • Psychology0.5%
  • Other1.2%

Topics

  • Genetics and Neurodevelopmental Disorders8.8%
  • Genomic variations and chromosomal abnormalities5%
  • Autism Spectrum Disorder Research4.4%
  • Genomics and Rare Diseases4%
  • Epigenetics and DNA Methylation2.9%
  • Congenital heart defects research2.8%
  • Other72.1%

Coauthors

All papers

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  1. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković - The American Journal of Human Genetics 2020 cited by 334

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler - Nature Genetics 2017 cited by 580

  3. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - Genetics in Medicine 2021 cited by 200

  4. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković - Human Genetics and Genomics Advances 2021 cited by 157

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković - Human Mutation 2022 cited by 80

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2019 cited by 206

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

    Authors: , , , , , , , , , , , , , - The American Journal of Human Genetics 2018 cited by 180

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Keiran Raine, Jenny Moon, Yin Luo, Josep Parnau, Shambhu S. Bhat, Alison Gardner, Mark Corbett, Doug A. Brooks, Paul Q. Thomas, Emma J. Parkinson-Lawrence, Mary Porteous, John P Warner, T. L. Sanderson, Pauline Pearson, Richard J. Simensen, Cindy Skinner, George Hoganson, Duane Superneau, Richard Wooster, Martin Bobrow, Gillian Turner, Roger E. Stevenson, Charles E. Schwartz, P. Andrew Futreal, Anand Srivastava, Michael R. Stratton, Jozef Gécz - Nature Genetics 2007 cited by 294

  9. Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

    Authors: , - Neuroscience & Biobehavioral Reviews 2014 cited by 245

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Claire Bénéteau, Sophie Blesson, Dominique Martin‐Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan - Genetics in Medicine 2018 cited by 221

  11. Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

    Authors: , , , , , , , , , , , , , , , , - Molecular Autism 2017 cited by 130

  12. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Communications 2018 cited by 124

  13. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - Clinical Epigenetics 2019 cited by 128

  14. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

    Authors: , , , , , , , , , , , , , , , - Nature Communications 2017 cited by 103

  15. X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

    Authors: , , , , , , - The American Journal of Human Genetics 2006 cited by 355

  16. Decreased tryptophan metabolism in patients with autism spectrum disorders

    Authors: , , , , , , , , - Molecular Autism 2013 cited by 173

  17. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

    Authors: , , , , , , , , , , - The American Journal of Human Genetics 2014 cited by 151

  18. An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

    Authors: , , , , , , , , , , , , - European Journal of Human Genetics 2020 cited by 84

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Paul Wray, Jon W. Teague, Adam P. Butler, Andy Jenkinson, Mingming Jia, David S. Richardson, Rebecca Shepherd, Richard Wooster, María‐Isabel Tejada, Francisco Martı́nez, Gemma L. Carvill, René Goliath, Arjan P.M. de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans‐Hilger Ropers, Fatima Abidi, Anand K. Srivastava, James J. Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F. Easton, Jackie Boyle, M. W. Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E. Stevenson, Martin Bobrow, Gillian Turner, Charles E. Schwartz, Jozef Gécz, F. Lucy Raymond, P. Andrew Futreal, Michael R. Stratton - Nature Genetics 2009 cited by 617

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

    Authors: , , , , , , , , , , , , , , , , - European Journal of Human Genetics 2012 cited by 248

  21. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

    Authors: , , , , , , , , , , , , , , , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2004 cited by 419

  22. Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

    Authors: , , , , , , , , , , , , , , - The American Journal of Human Genetics 2005 cited by 371

  23. Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

    Authors: , , , , , , , - Molecular Psychiatry 2013 cited by 240

  24. Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Jenny Moon, Ying Luo, Susan Holder, Sarah Smithson, Jane A. Hurst, Jill Clayton‐Smith, Bronwyn Kerr, Jackie Boyle, Marie Shaw, Lucianne Vandeleur, Jayson Rodriguez, Rachel Slaugh, Douglas F. Easton, Richard Wooster, Martin Bobrow, Anand Srivastava, Roger E. Stevenson, Charles E. Schwartz, Gillian Turner, Jozef Gécz, P. Andrew Futreal, Michael R. Stratton, M. W. Partington - The American Journal of Human Genetics 2007 cited by 228