Profil bibliographique

Lisa Robertson

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

24Publications signalées

770Citations signalées

3Affiliations récentes

Institutions déclarées

Institute of Cancer Research Aberdeen Royal Infirmary NHS Grampian

Domaines associés

Genetics and Neurodevelopmental DisordersBRCA gene mutations in cancerGenomics and Rare DiseasesLipoproteins and Cardiovascular HealthCholesterol and Lipid Metabolism

Publications récentes

Accès ouvert 2022 articleOpenAlex

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Lynne J. Hocking, Claire M. Andrews, Christine Armstrong, Morad Ansari et autres

11 citationsEuropean Journal of Human Genetics

Accès ouvert 2022 articleOpenAlex

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

Chey Loveday, Alice Garrett, Philip Law, Sandra Hanks et autres

17 citationsAnnals of Oncology

Accès ouvert 2022 articleOpenAlex

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford et autres

55 citationsThe Lancet Psychiatry

Accès ouvert 2022 preprintOpenAlex

Neuropsychiatric Risk in Children With Intellectual Disability of Genetic Origin: IMAGINE - The UK National Cohort Study

Jeanne Wolstencroft, Francesca Wicks, Marie Erwood, Ramya Srinivasan et autres

8 citationsSSRN Electronic Journal

Accès ouvert 2021 articleOpenAlex

Further delineation of phenotypic spectrum of SCN2A ‐related disorder

Ruth Richardson, Diana Baralle, Christopher Bennett, Tracy A. Briggs et autres

10 citationsAmerican Journal of Medical Genetics Part A

Accès ouvert 2020 articleOpenAlex

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

David Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh et autres

56 citationsGenetics in Medicine

Accès ouvert 2020 articleOpenAlex

Optimising intervals for abdominal aortic aneurysm surveillance: A pilot study analysing patient opinion

Lisa Robertson

5 citationsUltrasound

Accès ouvert 2019 articleOpenAlex

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Neeti Ghali, Duncan Baker, Angela F. Brady, Nigel Burrows et autres

24 citationsGenetics in Medicine

2019 articleOpenAlex

Analysis of patient breast dose from a mammographic biopsy unit

Donald McLean, Lewis Ryan, Lisa Robertson

0 citationsAustralasian Physical & Engineering Sciences in Medicine

Accès ouvert 2017 articleOpenAlex

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini, Natalie Canham et autres

289 citationsThe American Journal of Human Genetics

2016 articleOpenAlex

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

Gabriela Jones, Lisa Robertson, Paul Warman, Emily Craft et autres

6 citationsOphthalmic Genetics

Accès ouvert 2016 articleOpenAlex

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

Gabriela Jones, Lisa Robertson, Amit Maniyar, Christos Shammas et autres

10 citationsAmerican Journal of Medical Genetics Part A

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