All Stories

  1. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

    Article • Clinical Genetics, March 2017, Wiley

    Dr Karen W Gripp

  2. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    Article • American Journal of Medical Genetics Part A, August 2013, Wiley

    Dr Karen W Gripp

  3. Keratoconus in Costello Syndrome

    Article • American Journal of Medical Genetics Part A, March 2013, Wiley

    Dr Karen W Gripp

  4. Assessing genotype–phenotype correlation in Costello syndrome using a severity score

    Article • Genetics in Medicine, February 2013, Springer Science + Business Media

    Dr Karen W Gripp

  5. Special section. Syndrome-specific growth charts

    Article • American Journal of Medical Genetics Part A, October 2012, Wiley

    Dr Karen W Gripp

  6. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

    Article • Genetics in Medicine, March 2012, Springer Science + Business Media

    Dr Karen W Gripp

  7. Lateral meningocele syndrome and Hajdu-Cheney syndrome: Different disorders with overlapping phenotypes

    Article • American Journal of Medical Genetics Part A, June 2011, Wiley

    Dr Karen W Gripp

  8. Neuromuscular and Chest Wall Disorders

    Article • January 2008, Elsevier

    Dr Karen W Gripp

  9. Costello syndrome and related disorders

    Article • Current Opinion in Pediatrics, December 2007, Wolters Kluwer Health

    Dr Emilio Quezada, Dr Karen W Gripp

  10. Judith Hall, Judith Allanson, Karen Gripp, Anne Slavotinek (eds): Handbook of Physical Measurement, 2007

    Article • Human Genetics, May 2007, Springer Science + Business Media

    Dr Karen W Gripp

  11. Craniosynostosis Syndromes

    Article • January 2005, Wiley

    Dr Karen W Gripp

  12. Costello Syndrome

    Article • January 2005, Wiley

    Dr Karen W Gripp

  13. Tumor predisposition in Costello syndrome

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, January 2005, Wiley

    Dr Karen W Gripp

  14. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

    Article • Nature Genetics, June 2000, Springer Science + Business Media

    Dr Karen W Gripp

  15. Mutations in the humanTWIST gene

    Article • Human Mutation, May 2000, Wiley

    Dr Karen W Gripp

  16. Mutations in the humanTWIST gene

    Article • Human Mutation, February 2000, Wiley

    Dr Karen W Gripp

  17. Not Antley-Bixler syndrome

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Dr Karen W Gripp

  18. Not Antley‐Bixler syndrome

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Dr Karen W Gripp

  19. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother

    Article • American Journal of Medical Genetics, February 1999, Wiley

    Dr Karen W Gripp

  20. Reply to Aymé and Philip

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Dr Karen W Gripp

  21. Reply to Aymé and Philip

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Dr Karen W Gripp

  22. Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda

    Article • Skeletal Radiology, February 1997, Springer Science + Business Media

    Dr Karen W Gripp

  23. Extending the spectrum of distal arthrogryposis

    Article • American Journal of Medical Genetics, November 1996, Wiley

    Dr Karen W Gripp

  24. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

    Article • American Journal of Medical Genetics, February 1996, Wiley

    Dr Karen W Gripp