E. Cross

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.

John M. Opitz, Frank C. Stiles, David Wise et al. · PubMed · 1965 · 97 citations

Life Sciences, Genetics, Molecular Genetics +11

Detection of 53 <i>FBN1</i> mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

Claire Turner, Herschell S. Emery, Amanda Collins et al. · American Journal of Medical Genetics Part A · 2009 · 40 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

Rodney D. Gilbert, Claire Turner, Jane Whitney Gibson et al. · Kidney International · 2008 · 39 citations · Full text

Medicine, Molecular Genetics, Pathology +5

First case report of Muir–Torre syndrome associated with non-small cell lung cancer

L. Nolan, Diana Eccles, E. Cross et al. · Familial Cancer · 2009 · 20 citations

Medicine, Oncology, Neoplasia +6

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +14