Gail E. Graham

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas et al. · Human Mutation · 2005 · 283 citations

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Mark I. Rees, Kirsten Harvey, Brian R. Pearce et al. · Nature Genetics · 2006 · 232 citations · Full text

Developmental Biology, Mendelian Disorder, Human Startle Disease +8

Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience

Cecilia Götherström, Magnus Westgren, Steven W. Shaw et al. · Stem Cells Translational Medicine · 2013 · 196 citations · Full text

Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

Sek Mardy, Yuichi Miura, Fumio Endo et al. · The American Journal of Human Genetics · 1999 · 154 citations · Full text

Pain Syndrome, Developmental Biology, Allergy +11

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

Deborah A. McDermott, Michael Bressan, Jié He et al. · Pediatric Research · 2005 · 150 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +6