Fiona Connell

Guy's Hospital — United Kingdom

Medicine · Health Sciences

19h-index2.5kcitations37works0.02yr avg
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Research Topics

Lymphatic System and Diseases(13), Genomic variations and chromosomal abnormalities(7), Genomics and Rare Diseases(7), Genetics and Neurodevelopmental Disorders(6), Vascular Malformations and Hemangiomas(5)

Publications30 total

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
The American Journal of Human Genetics·2019· 11 citedOpen Access
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
The American Journal of Human Genetics·2019· 62 citedOpen Access
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
The American Journal of Human Genetics·2017· 269 citedOpen Access
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Genetics in Medicine·2017· 61 citedOpen Access
Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study
2016· 36 citedOpen Access
Table 1. [Summary of Molecular Genetic Testing Used in Milroy Disease].
2014
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
European Journal of Human Genetics·2013· 90 citedOpen Access
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
European Journal of Medical Genetics·2013· 11 cited
Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema
Circulation Research·2013· 167 citedOpen Access
<i>FLT</i><i>4</i>/<i>VEGFR</i><i>3</i>and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update
Human Mutation·2012· 99 cited
A CASE OF CONGENITAL ENTEROPATHY AND FAMILIAL MISSENSE MUTATION OF THE FOXP3 GENE
2012
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
The American Journal of Human Genetics·2012· 187 citedOpen Access
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Nature Genetics·2011· 494 cited
Pierpont syndrome: A collaborative study
American Journal of Medical Genetics Part A·2011· 15 citedOpen Access
Rapid identification of mutations in <i>GJC2</i> in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Journal of Medical Genetics·2011· 116 citedOpen Access
Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
American Journal of Medical Genetics Part A·2010· 82 cited
Re: “Conjunctival Edema and Distichiasis in Association With Congenital Lymphedema of the Lower Legs”
Ophthalmic Plastic and Reconstructive Surgery·2010· 2 cited
A new classification system for primary lymphatic dysplasias based on phenotype
Clinical Genetics·2010· 102 cited
Erratum to: Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia
Human Genetics·2009Open Access
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia
Human Genetics·2009· 98 cited
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Frequent Co-authors

Sahar Mansour(17), Glen Brice(16), Peter Mortimer(16), Steve Jeffery(14), Pia Østergaard(12), Jill Clayton‐Smith(7), David J. Bunyan(6), Michael A. Simpson(5), Natalie Canham(5), Alejandro Sifrim(5), Kamini Kalidas(5), Shane McKee(4), Siddharth Banka(4), Jeremy F. McRae(4), Stephen Clayton(4), Elena Prigmore(4), Diana Rajan(4), Nadia Akawi(4), Mohsan Alvi(4), Kirsty Ambridge(4)