Annie Procter

Genomics (United Kingdom) — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index2.3kcitations42works0.02yr avg
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Research Topics

Genomics and Rare Diseases(10), Genetics and Neurodevelopmental Disorders(9), Growth Hormone and Insulin-like Growth Factors(8), BRCA gene mutations in cancer(5), Ethics and Legal Issues in Pediatric Healthcare(5)

Publications32 total

The translation of psychiatric genetic findings to the clinic
Schizophrenia Research·2023· 7 citedOpen Access
T62. DEVELOPING AND DELIVERING A PSYCHIATRIC GENOMICS SERVICE - THE ALL WALES PSYCHIATRIC GENOMICS SERVICE
European Neuropsychopharmacology·2022
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
The Lancet Psychiatry·2022· 47 citedOpen Access
Neuropsychiatric Risk in Children With Intellectual Disability of Genetic Origin: IMAGINE - The UK National Cohort Study
SSRN Electronic Journal·2022· 8 citedOpen Access
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
European Journal of Human Genetics·2021· 14 citedOpen Access
Exploring synergies between transit investment and dense redevelopment: A scenario analysis in a rapidly urbanizing landscape
Landscape and Urban Planning·2017· 15 citedOpen Access
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome
Neurology·2017· 124 citedOpen Access
Genetic Testing of Children: A Clinical Perspective
Encyclopedia of Life Sciences·2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans
Journal of Clinical Investigation·2017· 161 citedOpen Access
Beyond Loss: Dementia, Identity, Personhood
European Journal of Human Genetics·2016· 55 citedOpen Access
68 The Incidence of Pathogenic Mutations in Index Cases of HCM, LQTS and CPVT: Results from a Clinical Testing Programme in Wales
2015
PMO-002 Evaluation of a nurse and dietetic led follow-up service for patients with an upper gastrointestinal malgnancy
Gut·2012Open Access
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions
Clinical Dysmorphology·2009· 33 citedOpen Access
Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics setting
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2009· 7 cited
Poster Presentations, pp. 202–223
Hormone Research in Paediatrics·2008Open Access
Genetic Testing of Children
Encyclopedia of Life Sciences·2006· 1 cited
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke
Human Genetics·2006· 31 cited
A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway
The Journal of Clinical Endocrinology & Metabolism·2004· 48 citedOpen Access
A novel GH variant (Ile179Met) exhibits a decreased ability to activate the ERK pathway
23rd Joint Meeting of the British Endocrine Societies with the European Federation of Endocrine Societies·2004
Human growth hormone 1 (<i>GH1</i>) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
Human Mutation·2003· 106 cited
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Frequent Co-authors

D.N. Cooper(7), Martin Horan(7), Linda Fryklund(6), Vicky Newsway(5), Tammy E. Easter(5), David Millar(5), M. F. Scanlon(4), Michael Krawczak(4), Alison Kraus(3), Angus Clarke(3), Mark Lewis(3), John W Gregory(3), Jeanne Wolstencroft(3), Ramya Srinivasan(3), Tamsin Ford(3), Kate Baker(3), Jérémy Hall(3), Sahar Mansour(3), David Skuse(3), Abhijit Dixit(2)