Bottani, Armand

Top Publications

Top Publications Authored or Co-Authored by "Bottani, Armand"

• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset

  American Journal of Human Genetics, Volume 62, No. 4, Year 1998, Citations 70
• Clinical, biomarker, and molecular delineations and genotype-Phenotype correlations of ataxia with oculomotor apraxia type 1

  JAMA Neurology, Volume 75, No. 4, Year 2018, Citations 43
• Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis

  American Journal of Medical Genetics, Part A, Volume 140, No. 13, Year 2006, Citations 26
• Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1

  American Journal of Human Genetics, Volume 80, No. 1, Year 2007, Citations 12