K
Kay Metcalfe
Researcher at St Mary's Hospital
Publications - 71
Citations - 4149
Kay Metcalfe is an academic researcher from St Mary's Hospital. The author has contributed to research in topics: Exome sequencing & Williams syndrome. The author has an hindex of 32, co-authored 69 publications receiving 3494 citations. Previous affiliations of Kay Metcalfe include Manchester Academic Health Science Centre & University of Saint Mary.
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Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes
Mayada Tassabehji,Kay Metcalfe,Annette Karmiloff-Smith,Martin J. Carette,Julia Grant,Nick Dennis,Willie Reardon,Miranda Splitt,Andrew P. Read,Dian Donnai +9 more
TL;DR: Genetic and psychometric testing of patients who have small deletions within the Williams syndrome critical region suggest that neither LIMK1 hemizygosity nor STX1A hemIZygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.
Journal ArticleDOI
GTF2IRD1 in Craniofacial Development of Humans and Mice
May Tassabehji,Peter Hammond,Annette Karmiloff-Smith,Pamela D. Thompson,Snorri S. Thorgeirsson,Marian E. Durkin,Nicholas C. Popescu,Tim J. Hutton,Kay Metcalfe,Agnes Rucka,Helen Stewart,Andrew P. Read,Mark Maconochie,Dian Donnai +13 more
TL;DR: It is shown that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders is proposed.
Journal ArticleDOI
An Elastin Gene Mutation Producing Abnormal Tropoelastin and Abnormal Elastic Fibres in a Patient with Autosomal Dominant Cutis Laxa
Mayada Tassabehji,Kay Metcalfe,Jane A. Hurst,Gillian S. Ashcroft,Cay M. Kielty,Carrie M. Wilmot,Dian Donnai,Andrew P. Read,Carolyn J.P. Jones +8 more
TL;DR: It is suggested that the mutant tropoelastin protein is synthesized, secreted and incorporated into the elastic matrix, where it alters the architecture of elastic fibres and reduces elastic recoil in affected tissues.
Journal ArticleDOI
EYA4, a Novel Vertebrate Gene Related to Drosophila Eyes Absent
Giuseppe Borsani,Alessandro DeGrandi,Andrea Ballabio,Alessandro Bulfone,Loris Bernard,Sandro Banfi,Claudio Gattuso,Margherita Mariani,Michael J. Dixon,Dian Donnai,Kay Metcalfe,Robin M. Winter,Marie Robertson,Richard Axton,Alison Brown,Veronica van Heyningen,Isabel M. Hanson +16 more
TL;DR: On the basis of map position and expression pattern, Eya4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients.