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Stephen P. Robertson

Stephen P. Robertson

D-Index & Metrics

Biology and Biochemistry

D-Index
66
Citations
12992
World Ranking
8827
National Ranking
23

Overview

Stephen P. Robertson is affiliated with the University of Otago in New Zealand. Their research focuses primarily on the fields of biochemistry, genetics, and molecular biology, with significant contributions to medicine. The main subfields of study in their work include genetics, molecular biology, cell biology, surgery, and pediatrics, perinatology, and child health.

Their research covers a broad range of topics, with notable emphasis on genomics and rare diseases, connective tissue disorders, genetics and neurodevelopmental disorders, epigenetics and DNA methylation, cellular transport and secretion, metabolism and genetic disorders, and nuclear structure and function.

Stephen P. Robertson has published extensively in several key scientific journals. Frequent publication venues include the European Journal of Human Genetics, American Journal of Medical Genetics Part A, Human Mutation, The American Journal of Human Genetics, and the Journal of the Royal Society of New Zealand.

The scientist has collaborated frequently with several colleagues. Notable co-authors include Zandra A. Jenkins, Emma M. Wade, Benjamin J. Halliday, Tim Morgan, and David Markie.

Recent papers authored or co-authored by Stephen P. Robertson demonstrate the diversity and scope of their research interests:

  • Nosology of genetic skeletal disorders: 2023 revision (2023), American Journal of Medical Genetics Part A
  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021), Human Genetics and Genomics Advances
  • Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts (2020), Frontiers in Public Health
  • Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders (2022), Human Mutation
  • Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity (2022), Science

Best Publications

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

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

    Stephen P. Robertson;Stephen P. Robertson;Stephen R.F. Twigg;Andrew J. Sutherland-Smith;Valérie Biancalana

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

    Sergio Gascón;Elisa Murenu;Giacomo Masserdotti;Felipe Ortega;Felipe Ortega;Felipe Ortega

  • Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

    Stephen R. F. Twigg;Rui Kan;Christian Babbs;Elena G. Bochukova

  • Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

    Michael A Simpson;Melita D Irving;Melita D Irving;Esra Asilmaz;Mary J Gray

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

    Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • Filamin A: phenotypic diversity.

    Stephen P Robertson

  • Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

    Silvia Cappello;Mary J Gray;Caroline Badouel;Caroline Badouel;Simona Lange

  • Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

    Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  • Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

    Zandra A Jenkins;Margriet van Kogelenberg;Tim Morgan;Aaron Jeffs

  • Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

    V. L. Sheen;A. Jansen;M. H. Chen;E. Parrini

  • Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    Margaret J McMillin;Anita E Beck;Anita E Beck;Jessica X Chong;Kathryn M Shively

  • Cantú Syndrome Is Caused by Mutations in ABCC9

    Bregje W.M. van Bon;Christian Gilissen;Dorothy K. Grange;Raoul C.M. Hennekam

  • Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder

    Idan Shalev;Terrie E. Moffitt;Antony W. Braithwaite;Andrea Danese

  • Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

    Kathrin Laue;Hans-Martin Pogoda;Philip B. Daniel;Arie van Haeringen

  • A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    Louise S Bicknell;Claire Farrington-Rock;Yousef Shafeghati;Patrick Rump

  • Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

    Johannes Klaus;Sabina Kanton;Christina Kyrousi;Ane Cristina Ayo-Martin

  • OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

    SP Robertson;Twigg;AJ Sutherland-Smith;Biancalana

Frequent Co-Authors

Timothy R. Morgan
Timothy R. Morgan California State University, Long Beach
Deborah Krakow
Deborah Krakow University of California, Los Angeles
Ravi Savarirayan
Ravi Savarirayan Murdoch Children's Research Institute
Andrew O.M. Wilkie
Andrew O.M. Wilkie University of Oxford
David L. Rimoin
David L. Rimoin Cedars-Sinai Medical Center
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Geert Mortier
Geert Mortier University of Antwerp
Andrea Superti-Furga
Andrea Superti-Furga University of Lausanne
Daniel H. Cohn
Daniel H. Cohn University of California, Los Angeles
Emma L. Duncan
Emma L. Duncan University of Queensland

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