Stephen P. Robertson

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire et al. · American Journal of Medical Genetics Part A · 2019 · 592 citations

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming

Sergio Gascón, Elisa Murenu, Giacomo Masserdotti et al. · Cell stem cell · 2015 · 358 citations · Full text

Neurophysiology, Metabolic Reprogramming, Metabolic Checkpoint +11

Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Stephen R.F. Twigg, Rui Kan, Christian Babbs et al. · Proceedings of the National Academy of Sciences · 2004 · 336 citations · Full text

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert Mortier et al. · American Journal of Medical Genetics Part A · 2023 · 318 citations · Full text