Charles E. Schwartz

Overview

Best Publications

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  Citations

• AGTR2 mutations in X-linked mental retardation.

  Virginie S. Vervoort;Michael A. Beachem;Penny S. Edwards;Sydney Ladd

  811
  Citations

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

  Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  678
  Citations

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

  Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  651
  Citations

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

  Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  591
  Citations

• UNIPARENTAL PATERNAL DISOMY IN A GENETIC CANCER-PREDISPOSING SYNDROME

  I. Henry;C. Bonaiti-Pellié;V. Chehensse;C. Beldjord

  524
  Citations

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

  Rainer G. Ruf;Pin-Xian Xu;Derek Silvius;Edgar A. Otto

  488
  Citations

• Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

  Stephen P. Robertson;Stephen P. Robertson;Stephen R.F. Twigg;Andrew J. Sutherland-Smith;Valérie Biancalana

  441
  Citations

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

  Charles E. Schwartz;Melanie M. May;Nancy J. Carpenter;R. Curtis Rogers

  390
  Citations

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

  Steve S. Sommer;Jinong Feng;Jin Yan

  388
  Citations

• Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho Rac guanine nucleotide exchange factor

  N. German Pasteris;Amy B. Cadle;Lindsay J. Logie;Mary E. M. Porteous

  370
  Citations

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

  James M. Amos-Landgraf;Amy Cottle;Robert M. Plenge;Mike Friez

  368
  Citations

• A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.

  Plenge Rm;Hendrich Bd;Schwartz C;Arena Jf

  339
  Citations

• 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

  C Y Ou;R E Stevenson;V K Brown;C E Schwartz

  311
  Citations

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

  Patrick S. Tarpey;F. Lucy Raymond;Lam S. Nguyen;Jayson Rodriguez

  306
  Citations

• A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

  Hong Jin;Melanie May;Lisbeth Tranebjærg;Elaine Kendall

  291
  Citations

• 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

  Patrick S. Tarpey;F. Lucy Raymond;Sarah O’Meara;Sarah Edkins

  290
  Citations

• Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

  Herbert A. Lubs;Roger E. Stevenson;Charles E. Schwartz

  279
  Citations

• Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

  Robert M. Plenge;Roger A. Stevenson;Herbert A. Lubs;Charles E. Schwartz

  276
  Citations

• OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

  SP Robertson;Twigg;AJ Sutherland-Smith;Biancalana

  97
  Citations