DavidManchesterMD

PubMed

• 5 citations
  Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, a...
  Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komar...> ;Human Genetics. 2017 Aug 1
• Case report of myometrial window following fetoscopic treatment of twin-twin transfusion syndrome: indications of underlying collagen vascular disease?
  Michael V. Zaretsky, David K. Manchester, Henry L. Galan, Nicholas Behrendt, Ahmed I. Marwan, Kenneth W. Liechty, Timothy M. Crombleholme> ;Clinical Case Reports. 2017 May 9
• 12 citations
  Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphi...
  Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komar...> ;Human Genetics. 2017 Apr 1
• 60 citations
  Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
  Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Na...> ;Nature Genetics. 2017 Mar 1
• 82 citations
  EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
  Susan Byrne, Lara Jansen, Jean Marie U-King-im, Ata Siddiqui, Hart G.W. Lidov, Istvan Bodi, Luke Smith, R. Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, M...> ;Brain. 2016 Mar 1
• 188 citations
  Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
  Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M Mcclelland, Mohammed A...> ;Nature Genetics. 2013 Jan 1
• 20 citations
  Harnessing genomics to identify environmental determinants of heritable disease
  Carole L. Yauk, J. Lucas Argueso, Scott S. Auerbach, Philip Awadalla, Sean Davis, David M. DeMarini, George R. Douglas, Yuri E. Dubrova, Rosalie K. Elespuru, Thomas W....> ;Mutation Research. 2013 Jan 1
• 6 citations
  Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails
  C. Corbett Wilkinson, David K. Manchester, Robert F. Keating, Lawrence L. Ketch, Ken R. Winston> ;Child's Nervous System. 2012 Jun 4
• 16 citations
  Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
  Jill A. Rosenfeld, Lindsey E. Stephens, Justine Coppinger, Blake C. Ballif, Joe J. Hoo, Beatrice N. French, Valerie Banks, Wendy E. Smith, David K. Manchester, Anne Ch...> ;European Journal of Human Genetics. 2011 Jan 19
• 13 citations
  Assessment of multiple types of DNA damage in human placentas from smoking and nonsmoking women in the Czech Republic
  M. Margaret Pratt, Leon C. King, Linda D. Adams, Kaarthik John, Paul Sirajuddin, Ofelia A. Olivero, David K. Manchester, Radim J. Sram, David M. DeMarini, Miriam C. Po...> ;Environmental and Molecular Mutagenesis. 2011 Jan 1
• 46 citations
  Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.
  Anji T. Yetman, Rebecca S. Beroukhim, D. Dunbar Ivy, David K. Manchester> ;Pediatrics. 2007 May 1
• 6 citations
  A forensic peer group approach to bullying after traumatic brain injury
  David Manchester, Gemma Wall, Pippa Dawson, Howard Jackson> ;Neuropsychological Rehabilitation. 2007 Apr 12
• 22 citations
  Two approaches to behavior disorder after traumatic brain injury.
  Gordon Muir Giles, David Manchester> ;The Journal of Head Trauma Rehabilitation. 2006 Mar 1
• 195 citations
  Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
  Jennifer J. Johnston, Isabelle M. Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. A...> ;American Journal of Human Genetics. 2005 Apr 1
• 126 citations
  The assessment of executive functions: coming out of the office
  David Manchester, Nicholas Priestley, Howard Jackson> ;Brain Injury. 2004 Nov 1
• 41 citations
  Ethnic variability in the allelic distribution of human aryl hydrocarbon receptor codon 554 and assessment of variant receptor function in vitro.
  Judy M. Y. Wong, Patricia A. Harper, Urs A. Meyer, Karl Walter Bock, Klaus Mörike, Jean Lagueux, Pierre Ayotte, Rachel F. Tyndale, Edward M. Sellers, David K. Manchest...> ;Pharmacogenetics. 2001 Feb 1
• 429 citations
  PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
  Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta, Michael J. Bennett, Robert J. Gorlin, S Faisal Ahmed, Joann Bodurtha, Carol A. Crowe, Mary Curtis, Majed Dasouki...> ;Human Molecular Genetics. 1999 Aug 1
• 3 citations
  Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.
  Debra Freedenberg, Louise W. Gane, Carolyn Sue Richards, Megan Lampe, J. Hills, Rebecca O'Connor, David K. Manchester, Annette K. Taylor, Flora Tassone, Dennis Hulsebe...> ;American Journal of Medical Genetics. 1999 Jul 30
• 19 citations
  PROMOTING CANCER SCREENING AMONG THE FIRST-DEGREE RELATIVES OF BREAST AND COLORECTAL CANCER PATIENTS : THE DESIGN OF TWO RANDOMIZED TRIALS
  Alfred C. Marcus, Dennis J. Ahnen, Gary Cutter, Ned Calonge, Sarah Russell, Scot Sedlacek, Marie E. Wood, David K. Manchester, Lynda M. Fox, Worta McCaskill-Stevens, D...> ;Preventive Medicine. 1999 Mar 1
• 81 citations
  Polycyclic aromatic hydrocarbon-DNA adducts in human placenta and modulation by CYP1A1 induction and genotype.
  Robin M. Whyatt, Douglas A. Bell, Wieslaw Jedrychowski, Regina M. Santella, Seymour Garte, Greg Cosma, David K. Manchester, T. L. Young, Thomas B. Cooper, Ruth Ottman,...> ;Carcinogenesis. 1998 Aug 1
• 193 citations
  Recent Developments in Molecular Epidemiology: A Study of the Effects of Environmental Polycyclic Aromatic Hydrocarbons on Birth Outcomes in Poland
  Frederica P. Perera, Robin M. Whyatt, Wieslaw Jedrychowski, Virginia Rauh, David K. Manchester, Regina M. Santella, Ruth Ottman> ;American Journal of Epidemiology. 1998 Feb 1
• 80 citations
  Meiotic Segregation, Recombination, and Gamete Aneuploidy Assessed in a t(1;10)(p22.1;q22.3) Reciprocal Translocation Carrier by Three- and Four-Probe Multicolor FISH ...
  Paul Van Hummelen, David Manchester, Xiu Lowe, Andrew J. Wyrobek> ;American Journal of Human Genetics. 1997 Sep 1
• 37 citations
  Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
  David Duggan, David K. Manchester, Karen P. Stears, Dennis J. Mathews, Carolyn Hart, Eric P. Hoffman> ;Neurogenetics. 1997 May 1
• 13 citations
  Binding of 2,3,7,8-tetrachlorodibenzo-p-dioxin to AH receptor in placentas from normal versus abnormal pregnancy outcomes
  Allan B. Okey, John V. Giannone, William Smart, Judy M. Y. Wong, David K. Manchester, Natalie B. Parker, Mark Feeley, Donald L. Grant, Andrew P. Gilman> ;Chemosphere. 1997 Mar 1
• 16 citations
  Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
  Janet A. Thomas, David K. Manchester, Karen E. Prescott, Richard Milner, Loris McGavran, M. Michael Cohen> ;American Journal of Medical Genetics. 1996 Apr 24
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