Arthur Grix

Diagnostic criteria for Walker‐Warburg syndrome

William B. Dobyns, Roberta A Pagon, Dawna Armstrong et al. · American Journal of Medical Genetics · 1989 · 448 citations

Medicine, Pediatrics, Ocular Disease +16

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Jun Shen, Edward C. Gilmore, Christine A Marshall et al. · Nature Genetics · 2010 · 294 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.

Seok Seon Kang, Paul Wong, H G Bock et al. · PubMed · 1991 · 128 citations

Life Sciences, Genetics, Molecular Genetics +14