Kay Metcalfe

6.3k citations

31 papers · 1.2k indexed · h-index 19

Co-authors: Dian Donnai Andrew Read Annette Karmiloff‐Smith Mayada Tassabehji May Tassabehji William Reardon N R Dennis Jill Clayton‐Smith
Topics: Williams Syndrome Research (11 papers)Genetics and Neurodevelopmental Disorders (5 papers)Genomic variations and chromosomal abnormalities (4 papers)
Cited by: Developmental Neuroscience Genetics Developmental Biology
Journals: Science Journal of Biological Chemistry Molecular Cell
Partner nations: United Kingdom United States Ireland

In The Last Decade

Kay Metcalfe

30 papers receiving 1.2k citations

Peers

Countries citing papers authored by Kay Metcalfe

Since Specialization

Citations

This map shows the geographic impact of Kay Metcalfe's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Kay Metcalfe with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Kay Metcalfe more than expected).

Fields of papers citing papers by Kay Metcalfe

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Kay Metcalfe. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Kay Metcalfe. The network helps show where Kay Metcalfe may publish in the future.

Co-authorship network of co-authors of Kay Metcalfe

This figure shows the co-authorship network connecting the top 25 collaborators of Kay Metcalfe. A scholar is included among the top collaborators of Kay Metcalfe based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Kay Metcalfe. Kay Metcalfe is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency 2022 ·Reproductive BioMedicine Online ·Leigh Demain,Kay Metcalfe,(unknown),Peter Clayton,(unknown),(unknown),Raymond T. O’Keefe,William G. Newman	4
2	The clinical presentation caused by truncating CHD8 variants 2019 ·Clinical Genetics ·Sofia Douzgou,Hui Liang,Kay Metcalfe,(unknown),Marc Tischkowitz,(unknown),Usha Kini,Shane McKee,Laura Yates,Marta Bertoli,Sally Ann Lynch,Susan Holder,(unknown),(unknown)	26
3	DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability 2019 ·European Journal of Medical Genetics ·(unknown),Kay Metcalfe,Bart Wagner,Ian Berry,Glenda Sobey,Rosalyn Jewell	17
4	Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis 2018 ·Molecular Cell ·Roberto Bellelli,Valérie Borel,Clare V. Logan,Jennifer M. Svendsen,(unknown),Emma Nye,Kay Metcalfe,Susan O’Çonnell,Gordon Stamp,Helen R. Flynn,Ambrosius P. Snijders,François Lassailly,Andrew P. Jackson,Simon J. Boulton	59
5	Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome 2018 ·Epilepsy Research ·Kenneth A. Myers,Susan M. White,Shehla Mohammed,Kay Metcalfe,Andrew E. Fry,(unknown),Pradeep Vasudevan,Meena Balasubramanian,Ingrid E. Scheffer	13
6	Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome 2013 ·European Journal of Human Genetics ·Denise Horn,Dagmar Wieczorek,Kay Metcalfe,Ivo Barić,(unknown),Mario Ćuk,Danijela Petković Ramadža,Ulrike Krüger,Stephanie Demuth,Wolfram Heinritz,Tobias Linden,Jens Koenig,Peter N. Robinson,Peter Krawitz	31
7	Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients 2012 ·Frontiers in Psychology ·Annette Karmiloff‐Smith,Hannah Broadbent,Emily K. Farran,Elena Vittoria Longhi,Dean D’Souza,Kay Metcalfe,May Tassabehji,Rachel Wu,Atsushi Senju,Francesca Happé,Peter D. Turnpenny,Francis H. Sansbury	37
8	Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies 2012 ·Archives of Disease in Childhood ·Sofia Douzgou,Catherine Breen,Yanick J. Crow,Kate Chandler,Kay Metcalfe,Elizabeth A. Jones,Bronwyn Kerr,Jill Clayton‐Smith	27
9	Fragile X syndrome: an overview 2011 ·The Obstetrician & Gynaecologist ·(unknown),Kay Metcalfe,William G. Newman,(unknown)	1
10	SET Nuclear Oncogene Associates with Microcephalin/MCPH1 and Regulates Chromosome Condensation 2011 ·Journal of Biological Chemistry ·Justin Leung,Andrea Leitch,Jamie L. Wood,Charles Shaw‐Smith,Kay Metcalfe,Louise S. Bicknell,Andrew P. Jackson,Junjie Chen	27
11	Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24 2008 ·American Journal of Medical Genetics Part A ·William G. Newman,Jill Clayton‐Smith,Kay Metcalfe,(unknown),Marco Tartaglia,Francesco Brancati,(unknown),Antonio Novelli,Xiangdong Liu,Katherine Siminovitch,Stefan Mundlos,May Tassabehji,Graeme C. Black	8
12	GTF2IRD1 in Craniofacial Development of Humans and Mice 2005 ·Science ·May Tassabehji,Peter Hammond,Annette Karmiloff‐Smith,Pamela Thompson,Snorri S. Thorgeirsson,Marian E. Durkin,Nicholas C. Popescu,(unknown),Kay Metcalfe,(unknown),Helen Stewart,Andrew Read,Mark Maconochie,Dian Donnai	145
13	Discriminating Power of Localized Three-Dimensional Facial Morphology 2005 ·The American Journal of Human Genetics ·Peter Hammond,Tim J. Hutton,Judith Allanson,Bernard Buxton,Linda Campbell,Jill Clayton‐Smith,Dian Donnai,Annette Karmiloff‐Smith,Kay Metcalfe,Kieran C. Murphy,Michael A. Patton,Barbara R. Pober,Katrina Prescott,Peter Scambler,Adam Shaw,Ann C. M. Smith,Angela Stevens,I. Karen Temple,Raoul C. M. Hennekam,May Tassabehji	118
14	Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome 2004 ·European Journal of Human Genetics ·Hannah Tipney,(unknown),Andy Brass,Kay Metcalfe,Dian Donnai,May Tassabehji	45
15	A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. 2001 ·The American Journal of Human Genetics ·(unknown),Navaratnam Elanko,(unknown),Kay Metcalfe,Jill Clayton‐Smith,I. Karen Temple,(unknown),D Donnai	2
16	A survey ofTWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals 2001 ·Human Mutation ·Navaratnam Elanko,(unknown),Kay Metcalfe,Jill Clayton‐Smith,Dian Donnai,I. Karen Temple,Steven A. Wall,Andrew O.M. Wilkie	30
17	Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype 2001 ·Human Mutation ·Prateek Gupta,Elizabeth A. Putnam,(unknown),Ilkka Kaitila,Beat Steinmann,Anne H. Child,Cesare Danesino,Kay Metcalfe,Susan A. Berry,Emily Chen,(unknown),Meow‐Keong Thong,Lesley C. Adès,Dianna M. Milewicz	92
18	Elastin: mutational spectrum in supravalvular aortic stenosis 2000 ·European Journal of Human Genetics ·Kay Metcalfe,(unknown),Leslie Smoot,(unknown),(unknown),Pascal McKeown,Victoria Mok Siu,Anita Rauch,John Dean,N R Dennis,Ian O. Ellis,William Reardon,Cheryl Cytrynbaum,Lucy R. Osborne,John R.W. Yates,Andrew Read,Dian Donnai,Mayada Tassabehji	110
19	Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes 1999 ·The American Journal of Human Genetics ·Mayada Tassabehji,Kay Metcalfe,Annette Karmiloff‐Smith,(unknown),Julia D. Grant,N R Dennis,William Reardon,Miranda Splitt,Andrew Read,D Donnai	166
20	A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome 1999 ·European Journal of Human Genetics ·Mayada Tassabehji,(unknown),Carrie M. Wilmot,Dian Donnai,Andrew Read,Kay Metcalfe	31

About Kay Metcalfe

Kay Metcalfe is a scholar working on Developmental Neuroscience, Genetics and Molecular Biology, having authored 31 papers that have together received 1.2k indexed citations. Recurring topics across this work include Williams Syndrome Research (11 papers), Genetics and Neurodevelopmental Disorders (5 papers) and Genomic variations and chromosomal abnormalities (4 papers). The work is most often cited by research in Developmental Neuroscience (437 citations), Genetics (421 citations) and Developmental Biology (20 citations). Kay Metcalfe has collaborated with scholars based in United Kingdom, United States and Ireland. Frequent co-authors include Dian Donnai, Andrew Read, Annette Karmiloff‐Smith, Mayada Tassabehji, May Tassabehji, William Reardon, N R Dennis, Jill Clayton‐Smith, Miranda Splitt and Julia D. Grant. Their work appears in journals such as Science, Journal of Biological Chemistry and Molecular Cell.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact