Emilia Bijlsma

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Guy A. Rouleau, P. Merel, Mohini Lutchman et al. · Nature · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +9

Screening for germ‐line mutations in the <i>NF2</i> Gene

P. Merel, Khê Hoang‐Xuan, Marc Sanson et al. · Genes Chromosomes and Cancer · 1995 · 131 citations

Life Sciences, Genetics, Oncology +17

Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations

Gabriele Richard, Nkecha Brown, Fatima Rouan et al. · Journal of Investigative Dermatology · 2003 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mosaicism in a patient with Down syndrome reveals post‐fertilization formation of a robertsonian translocation and isochromosome

Ruma Bandyopadhyay, Christopher McCaskill, Cami Knox‐Du Bois et al. · American Journal of Medical Genetics Part A · 2002 · 96 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Carina Wallgren‐Pettersson, Kati Donner, Caroline A. Sewry et al. · Neuromuscular Disorders · 2002 · 92 citations

Life Sciences, Genetics, Molecular Genetics +11