Tim Wood

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner et al. · European Journal of Human Genetics · 2003 · 173 citations · Full text

Spermatogenesis, Infertility, Developmental Biology +8

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Sara Cathey, J. G. Leroy, Tim Wood et al. · Journal of Medical Genetics · 2009 · 153 citations

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Amy J. Clark, Efraim H. Rosenberg, Lígia S. Almeida et al. · Human Genetics · 2006 · 143 citations

Urology, Mendelian Disorder, Genetic Disorder +7

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

K. Hahn, Gajja S. Salomons, Darci Tackels‐Horne et al. · The American Journal of Human Genetics · 2002 · 106 citations · Full text

Creatine-transporter Gene, Mendelian Disorder, Genetic Disorder +10

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 93 citations · Full text

Cell Division, Biochemistry, Lysosomal Acidification +9