Samia A. Temtamy

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Carmel Toomes, Jacqueline A. James, Andrew J. Wood et al. · Nature Genetics · 1999 · 489 citations · Full text

Periodontal Disease, Genetics, Pathogenesis +7

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 425 citations · Full text

Genetic Disorder, Aicardi-goutières Syndrome, Genetics +9

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza et al. · Genetics in Medicine · 2011 · 333 citations · Full text

Intimate Relationship, Gender Studies, Sociology +8

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia A. Temtamy et al. · The American Journal of Human Genetics · 2010 · 283 citations · Full text

Bone Disease, Recessive Osteogenesis Imperfecta, Developmental Biology +7

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp, Filippo Beleggia, Hülya Kayserili et al. · The American Journal of Human Genetics · 2013 · 277 citations · Full text

Bone Disease, Bone Fragility, Bone Morphogenic Protein +4