A. H. Child

Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

Petros Tsipouras, R. Del Mastro, M. Sarfarazi et al. · New England Journal of Medicine · 1992 · 273 citations

Rapid identification of mutations in <i>GJC2</i> in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Pia Østergaard, Michael A. Simpson, Glen Brice et al. · Journal of Medical Genetics · 2011 · 116 citations · Full text

A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis

Lasse Lönnqvist, A. H. Child, Katariina Kainulainen et al. · Genomics · 1994 · 92 citations

Novel Mutation, Genetics, Pathogenesis +2

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bert Callewaert et al. · European Journal of Human Genetics · 2008 · 82 citations · Full text

Mutation-type Analysis, Mendelian Disorder, International Series +10

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Katariina Kainulainen, B Steinmann, F Collins et al. · PubMed · 1991 · 52 citations