S. White

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

Nigel G. Laing, P. Anthony Akkari, S.M. Dorosz et al. · Nature Genetics · 1995 · 355 citations

Medicine, Genetics, Molecular Genetics +8

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Nigel G. Laing, Bernadette T. Majda, P. Anthony Akkari et al. · PubMed · 1992 · 70 citations

Life Sciences, Genetics, Molecular Genetics +8

CAG Repeat Expansion in Autosomal Dominant Familial Spastic Paraparesis: Novel Expansion in a Subset of Patients

Kathleen F. Benson, Marshall S. Horwitz, John Wolff et al. · Human Molecular Genetics · 1998 · 27 citations

Life Sciences, Genetics, Neurology +16

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme et al. · The American Journal of Human Genetics · 2024 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom (vol 46,pg 632, 2002)

K. Mackay, Stephen Eyre, Anne Myerscough et al. · Queensland's institutional digital repository (The University of Queensland) · 2002 · 21 citations

Life Sciences, Genetics, Molecular Genetics +15