Iain McIntosh

Overview

Best Publications

• Association of human aging with a functional variant of klotho

  Dan E. Arking;Alice Krebsova;Milan Macek;Albert Arking

  557
  Citations

• A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

  Gary A. Bellus;Iain McIntosh;Iain McIntosh;E. Anne Smith;Arthur S. Aylsworth

  508
  Citations

• Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

  Harry C. Dietz;Iain McIntosh;Lynn Y. Sakai;Lynn Y. Sakai;Glen M. Corson

  381
  Citations

• A type X collagen mutation causes schmid metaphyseal chondrodysplasia

  Matthew L. Warman;Margaret Abbott;Suneel S. Apte;Tim Hefferon

  307
  Citations

• Nail patella syndrome: a review of the phenotype aided by developmental biology

  E Sweeney;A Fryer;R Mountford;A Green

  305
  Citations

• Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35

  Mary L. Marazita;Jeffrey C. Murray;Andrew C. Lidral;Mauricio Arcos-Burgos

  302
  Citations

• Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects

  Shih Jen Hwang;Terri H. Beaty;Susan R. Panny;Nancy A. Street

  291
  Citations

• Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

  G Nijbroek;S Sood;I McIntosh;C A Francomano

  266
  Citations

• Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

  Douglas Vollrath;Virna L. Jaramillo-Babb;Mark V. Clough;Iain McIntosh

  265
  Citations

• Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

  Sumesh Sood;Zayz A. Eldadah;Wilma L. Krause;Iain McIntosh;Iain McIntosh

  234
  Citations

• Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models.

  Nancy E. Maestri;Terri H. Beaty;Jacqueline Hetmanski;E. Anne Smith

  219
  Citations

• Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

  Iain McIntosh;Sandra D. Dreyer;Sandra D. Dreyer;Mark V. Clough;Jennifer A. Dunston

  207
  Citations

• Identification of TSIX, Encoding an RNA Antisense to Human XIST, Reveals Differences from its Murine Counterpart: Implications for X Inactivation

  Barbara R. Migeon;Ashis K. Chowdhury;Jennifer A. Dunston;Iain McIntosh

  162
  Citations

• Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations

  Ji Wan Park;Iain McIntosh;Iain McIntosh;Jacqueline B. Hetmanski;Ethylin Wang Jabs

  149
  Citations

• A case-control study of nonsyndromic oral clefts in Maryland.

  T. H. Beaty;H. Wang;J. B. Hetmanski;Y. T. Fan

  147
  Citations

• Testing candidate genes for non-syndromic oral clefts using a case-parent trio design.

  Terri H Beaty;J B Hetmanski;J S Zeiger;Y T Fan

  142
  Citations

• Nonsense mutations and diminished mRNA levels.

  Iain McIntosh;Ada Hamosh;Harry C. Dietz

  135
  Citations

• Testing for Interaction between Maternal Smoking and TGFA Genotype among Oral Cleft Cases Born in Maryland 1992–1996

  Terri H. Beaty;Nancy E. Maestri;Jacqueline B. Hetmanski;Diego F. Wyszynski

  134
  Citations

• Cystic fibrosis patients bearing both the common missense mutation, Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus

  Hamosh A;King Tm;Rosenstein Bj;Corey M

  133
  Citations

• Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

  Robert A. Montgomery;Michael T. Geraghty;Evelyn Bull;Bruce D. Gelb

  126
  Citations