Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype-phenotype correlation in L1 associated diseases.

Eric Fransen, Guy Van Camp, Rudi D’Hooge et al. · Journal of Medical Genetics · 1998 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos et al. · Journal of Medical Genetics · 2009 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

An updated and upgraded<i>L1CAM</i>mutation database

Yvonne J. Vos, Robert M.W. Hofstra · Human Mutation · 2009 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Three cases with L1 syndrome and two novel mutations in the L1CAM gene

Rosario Marín, Miriam Ley-Martos, Gema Gutiérrez et al. · European Journal of Pediatrics · 2015 · 22 citations

Life Sciences, Genetics, Molecular Genetics +6