All Stories

  1. Novel De NovoEFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses

    Article • The Cleft Palate-Craniofacial Journal, October 2018, SAGE Publications

    Yves Lacassie

  2. Schaaf-Yang syndrome overview: Report of 78 individuals

    Article • American Journal of Medical Genetics Part A, October 2018, Wiley

    Yves Lacassie

  3. Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novelGNPTABmutation, and a concomitant heterozygous change inSERPINF1inherited from the mother

    Article • Clinical Case Reports, February 2017, Wiley

    Yves Lacassie

  4. Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair

    Article • American Journal of Medical Genetics Part A, November 2016, Wiley

    Yves Lacassie

  5. Carlos F. Salinas, DMD (April 9, 1941-January 14, 2015)

    Article • American Journal of Medical Genetics Part A, March 2015, Wiley

    Yves Lacassie

  6. Unexpected exome sequencing result: De novoTRPS1mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

    Article • American Journal of Medical Genetics Part A, March 2014, Wiley

    Yves Lacassie