Kathleen A. Williamson

10.8k citations

35 papers · 1.8k indexed · h-index 21

Molecular Biology top 10%
Genetics top 2%
Genetics top 5%
Surgery
Radiology, Nuclear Medicine and Imaging top 10%

Co-authors: Veronica van Heyningen David Fitzpatrick Anthony T. Moore Sanjay M. Sisodiya S. L. Free Melanie Hingorani John Stevens Isabel M. Hanson
Topics: Ocular Disorders and Treatments (13 papers)Renal and related cancers (7 papers)Developmental Biology and Gene Regulation (7 papers)
Cited by: Genetics Ophthalmology
Journals: Nature Genetics Neurology Annals of Neurology
Partner nations: United Kingdom Germany United States

In The Last Decade

Kathleen A. Williamson

33 papers receiving 1.8k citations

Peers

Countries citing papers authored by Kathleen A. Williamson

Since Specialization

Citations

This map shows the geographic impact of Kathleen A. Williamson'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 Kathleen A. Williamson with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Kathleen A. Williamson more than expected).

Fields of papers citing papers by Kathleen A. Williamson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Kathleen A. Williamson. 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 Kathleen A. Williamson. The network helps show where Kathleen A. Williamson may publish in the future.

Co-authorship network of co-authors of Kathleen A. Williamson

This figure shows the co-authorship network connecting the top 25 collaborators of Kathleen A. Williamson. A scholar is included among the top collaborators of Kathleen A. Williamson 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 Kathleen A. Williamson. Kathleen A. Williamson is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia 2023 ·Journal of Medical Genetics ·(unknown),David Parry,Mihail Halachev,Kathleen A. Williamson,Kevin Donnelly,(unknown),Shipra Bhatia,Jeffrey T. Joseph,Simon Holden,Trine Prescott,Pierre Bitoun,Edwin P. Kirk,Ruth Newbury‐Ecob,Katherine Lachlan,Juan Bernar,Veronica van Heyningen,David Fitzpatrick,Alison Meynert	4
2	NAA10 polyadenylation signal variants cause syndromic microphthalmia 2019 ·Journal of Medical Genetics ·Jennifer J. Johnston,Kathleen A. Williamson,(unknown),Julie C. Sapp,Morad Ansari,Heather Chapman,D.N. Cooper,Tabib Dabir,(unknown),Richard Holt,Nicola Ragge,Alejandro A. Schäffer,Shurjo K. Sen,Anne Slavotinek,David Fitzpatrick,Thomas Gläser,Fiona Stewart,Graeme C. Black,Leslie G. Biesecker	22
3	The genetic architecture of aniridia and Gillespie syndrome 2018 ·Human Genetics ·(unknown),Kathleen A. Williamson,David Fitzpatrick	43
4	Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features 2018 ·BMC Pediatrics ·(unknown),Kathleen A. Williamson,Kavinda Dayasiri,(unknown),(unknown),(unknown),Jithangi Wanigasinghe,(unknown),(unknown)	9
5	Safety and efficacy of high-dose enteral, intravenous, and transdermal clonidine for the acute management of severe intractable childhood dystonia and status dystonicus: An illustrative case-series 2017 ·European Journal of Paediatric Neurology ·Vasiliki Nakou,Kathleen A. Williamson,Tomoki Arichi,Daniel E. Lumsden,(unknown),Margaret Kaminska,Jean‐Pierre Lin	17
6	A recurrent de novo mutation inACTG1causes isolated ocular coloboma 2017 ·Human Mutation ·Joe Rainger,Kathleen A. Williamson,Dinesh C. Soares,(unknown),Dominic Kurian,Gabriele Gillessen‐Kaesbach,Anne Seawright,James Prendergast,Mihail Halachev,Ann P. Wheeler,Lynn McTeir,Andrew C. Gill,Veronica van Heyningen,Megan G. Davey,David Fitzpatrick,(unknown)	20
7	A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma 2016 ·Human Molecular Genetics ·Chunqiao Liu,(unknown),Kathleen A. Williamson,Rinki Ratnapriya,Christina Gerth‐Kahlert,Joe Rainger,(unknown),(unknown),(unknown),(unknown),James Floyd,Tiansen Li,Andrew J. Waskiewicz,Brian P. Brooks,Ordan J. Lehmann,David Fitzpatrick,Anand Swaroop	32
8	A randomised controlled trial of supplemental oxygen versus medical air during exercise training in people with chronic obstructive pulmonary disease: supplemental oxygen in pulmonary rehabilitation trial (SuppORT) (Protocol) 2016 ·BMC Pulmonary Medicine ·Jennifer Alison,Zoe McKeough,Sue Jenkins,Anne E. Holland,Kylie Hill,Norman Morris,(unknown),Kathleen A. Williamson,Lissa Spencer,Catherine J. Hill,Annemarie L. Lee,Helen Seale,Nola Cecins,Christine F. McDonald	9
9	SOX2-Related Eye Disorders 2014 ·Kathleen A. Williamson,David Fitzpatrick	2
10	The genetic architecture of microphthalmia, anophthalmia and coloboma 2014 ·European Journal of Medical Genetics ·Kathleen A. Williamson,David Fitzpatrick	170
11	Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia 2008 ·American Journal of Medical Genetics Part A ·David Robinson,(unknown),Kathleen A. Williamson,Veronica van Heyningen,Sarah J. Beal,John A. Crolla	95
12	De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease 2006 ·Journal of Molecular Medicine ·(unknown),Klaus Rüther,Kathleen A. Williamson,Birgit Lorenz,Barbara Lucke,Peter Nürnberg,Frans J.M. Trijbels,A.J.M. Janssen,Markus Schuelke	9
13	Role ofSOX2Mutations in Human Hippocampal Malformations and Epilepsy 2006 ·Epilepsia ·Sanjay M. Sisodiya,Nicola Ragge,Gianpiero L. Cavalleri,Ann Hever,Birgit Lorenz,Adele Schneider,Kathleen A. Williamson,John Stevens,S. L. Free,Pamela J. Thompson,Veronica van Heyningen,David Fitzpatrick	70
14	Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome 2006 ·Human Molecular Genetics ·Kathleen A. Williamson,Ann Hever,Joe Rainger,R. Curtis Rogers,Alex Magee,(unknown),Wee Teik Keng,Freddie H. Sharkey,Niolette I. McGill,(unknown),Adele Schneider,Mario Messina,Peter D. Turnpenny,Judy Fantes,Veronica van Heyningen,David Fitzpatrick	158
15	SOX2 anophthalmia syndrome 2005 ·American Journal of Medical Genetics Part A ·Nicola Ragge,Birgit Lorenz,Adele Schneider,Kate Bushby,Luisa De Sanctis,Ugo de Sanctis,Alison Salt,J. R. O. Collin,Anthony J. Vivian,S. L. Free,Pamela J. Thompson,Kathleen A. Williamson,Sanjay M. Sisodiya,Veronica van Heyningen,David Fitzpatrick	160
16	Polymicrogyria and absence of pineal gland due to PAX6 mutation 2003 ·Annals of Neurology ·Tejal N. Mitchell,S. L. Free,Kathleen A. Williamson,John Stevens,A Churchill,Isabel M. Hanson,Simon Shorvon,Anthony T. Moore,Veronica van Heyningen,Sanjay M. Sisodiya	130
17	PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation 2001 ·Clinical Genetics ·Alessandro Malandrini,Francesca Mari,Silvia Palmeri,S. Gambelli,Gianna Berti,Mirella Bruttini,(unknown),Kathleen A. Williamson,Veronica van Heyningen,Alessandra Renieri	48
18	Hemolytic uremic syndrome associated with Denys-Drash syndrome 2000 ·Pediatric Nephrology ·Joseph R. Sherbotie,Veronica van Heyningen,Richard A Axton,Kathleen A. Williamson,Laura S. Finn,B. S. Kaplan	17
19	Expression of the wilms' tumor gene WT1 in human malignant mesothelioma cell lines and relationship to platelet‐derived growth factor A and insulin‐like growth factor 2 expression 1995 ·Genes Chromosomes and Cancer ·(unknown),Kathleen A. Williamson,Kiyoshi Miyagawa,Anne Hagemeijer,Marjan A. Versnel,Nicholas D. Hastie	37
20	Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion 1993 ·Human Molecular Genetics ·Melissa H. Little,Kathleen A. Williamson,Marcel M. A. M. Mannens,Anna Kelsey,Christine Gosden,Nicholas D. Hastie,Veronica van Heyningen	103

About Kathleen A. Williamson

Kathleen A. Williamson is a scholar working on Genetics, Genetics and Ophthalmology, having authored 35 papers that have together received 1.8k indexed citations. Recurring topics across this work include Ocular Disorders and Treatments (13 papers), Renal and related cancers (7 papers) and Developmental Biology and Gene Regulation (7 papers). The work is most often cited by research in Genetics (836 citations), Genetics (278 citations) and Ophthalmology (186 citations). Kathleen A. Williamson has collaborated with scholars based in United Kingdom, Germany and United States. Frequent co-authors include Veronica van Heyningen, David Fitzpatrick, Anthony T. Moore, Sanjay M. Sisodiya, S. L. Free, Melanie Hingorani, John Stevens, Isabel M. Hanson, Tejal N. Mitchell and Simon Shorvon. Their work appears in journals such as Nature Genetics, Neurology and Annals of Neurology.

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.

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