Kathleen A. Williamson

10.8k citations

35 papers · 1.8k indexed · h-index 21

Genetics top 2%
- Ocular Disorders and Treatments 13
- Congenital Ear and Nasal Anomalies 5
Genetics top 5%
- Ocular Disorders and Treatments 13
- Congenital Ear and Nasal Anomalies 5
Ophthalmology top 2%
Developmental Neuroscience top 10%
Molecular Biology top 10%
- Renal and related cancers 7
- Developmental Biology and Gene Regulation 7
- Retinal Development and Disorders 5
- Hedgehog Signaling Pathway Studies 3
- Congenital heart defects research 3
Surgery
- Reconstructive Facial Surgery Techniques 3

Co-authors: Veronica van Heyningen David Fitzpatrick Anthony T. Moore Sanjay M. Sisodiya S. L. Free Melanie Hingorani John Stevens Isabel M. Hanson
Cited by: Genetics Ophthalmology
Journals: Human Molecular Genetics (4 papers)Journal of Medical Genetics (2 papers)Investigative Ophthalmology & Visual Science (2 papers)
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

The 25 scholars most cited alongside Kathleen A. Williamson, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Kathleen A. Williamson Line = papers co-authored together Kathleen A. Williamson links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Journal of Medical Genetics ·Kamran Sadahiani,David Parry,Mihail Halachev,Kathleen A. Williamson,Kevin Donnelly,Emma Brown Dewhurst,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	2023	4
2	NAA10 polyadenylation signal variants cause syndromic microphthalmia Journal of Medical Genetics ·Jennifer J. Johnston,Kathleen A. Williamson,Günter Müller,Julie C. Sapp,Morad Ansari,Heather Chapman,D.N. Cooper,Tabib Dabir,Vildana Jahić,Richard Holt,Nicola Ragge,Alejandro A. Schäffer,Shurjo K. Sen,Anne Slavotinek,David Fitzpatrick,Thomas Gläser,Fiona Stewart,Graeme C. Black,Leslie G. Biesecker	2019	22
3	The genetic architecture of aniridia and Gillespie syndrome Human Genetics ·Kamran Sadahiani,Kathleen A. Williamson,David Fitzpatrick	2018	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 BMC Pediatrics ·理恵子西田,Kathleen A. Williamson,Kavinda Dayasiri,Tuba AYIK AKÇA,B Bueno,G Lindzey,Jithangi Wanigasinghe,Kai Wang,To'rayeva Sanobar Sulaymonovna	2018	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 European Journal of Paediatric Neurology ·Vasiliki Nakou,Kathleen A. Williamson,Tomoki Arichi,Daniel E. Lumsden,Leidy Tatiana Contreras Montoya,Margaret Kaminska,Jean‐Pierre Lin	2017	17
6	A recurrent de novo mutation inACTG1causes isolated ocular coloboma Human Mutation ·Joe Rainger,Kathleen A. Williamson,Dinesh C. Soares,Cesar Alberto Arciniega Tolay,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)	2017	20
7	A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Human Molecular Genetics ·Chunqiao Liu,Mikael Ejner,Kathleen A. Williamson,Rinki Ratnapriya,Christina Gerth‐Kahlert,Joe Rainger,Kaori Ikuma,勝美大平,Chaopeng Yang,Barbara M. Sattler,James Floyd,Tiansen Li,Andrew J. Waskiewicz,Brian P. Brooks,Ordan J. Lehmann,David Fitzpatrick,Anand Swaroop	2016	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) BMC Pulmonary Medicine ·Jennifer Alison,Zoe McKeough,Sue Jenkins,Anne E. Holland,Kylie Hill,Norman Morris,Alexander D. Paish,Kathleen A. Williamson,Lissa Spencer,Catherine J. Hill,Annemarie L. Lee,Helen Seale,Nola Cecins,Christine F. McDonald	2016	9
9	SOX2-Related Eye Disorders Kathleen A. Williamson,David Fitzpatrick	2014	2
10	The genetic architecture of microphthalmia, anophthalmia and coloboma European Journal of Medical Genetics ·Kathleen A. Williamson,David Fitzpatrick	2014	170
11	Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia American Journal of Medical Genetics Part A ·David Robinson,Wang Ping,Kathleen A. Williamson,Veronica van Heyningen,Sarah J. Beal,John A. Crolla	2008	95
12	De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease Journal of Molecular Medicine ·Jørgen Ægidius,Klaus Rüther,Kathleen A. Williamson,Birgit Lorenz,Barbara Lucke,Peter Nürnberg,Frans J.M. Trijbels,A.J.M. Janssen,Markus Schuelke	2006	9
13	Role ofSOX2Mutations in Human Hippocampal Malformations and Epilepsy 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	2006	70
14	Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome Human Molecular Genetics ·Kathleen A. Williamson,Ann Hever,Joe Rainger,R. Curtis Rogers,Alex Magee,Jessica M. Coleman,Wee Teik Keng,Freddie H. Sharkey,Niolette I. McGill,Vishwa. Y,Adele Schneider,Mario Messina,Peter D. Turnpenny,Judy Fantes,Veronica van Heyningen,David Fitzpatrick	2006	158
15	SOX2 anophthalmia syndrome 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	2005	160
16	Polymicrogyria and absence of pineal gland due to PAX6 mutation 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	2003	130
17	PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation Clinical Genetics ·Alessandro Malandrini,Francesca Mari,Silvia Palmeri,S. Gambelli,Gianna Berti,Mirella Bruttini,武志茂,Kathleen A. Williamson,Veronica van Heyningen,Alessandra Renieri	2001	48
18	Hemolytic uremic syndrome associated with Denys-Drash syndrome Pediatric Nephrology ·Joseph R. Sherbotie,Veronica van Heyningen,Richard A Axton,Kathleen A. Williamson,Laura S. Finn,B. S. Kaplan	2000	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 Genes Chromosomes and Cancer ·Alain Menoret,Kathleen A. Williamson,Kiyoshi Miyagawa,Anne Hagemeijer,Marjan A. Versnel,Nicholas D. Hastie	1995	37
20	Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion Human Molecular Genetics ·Melissa H. Little,Kathleen A. Williamson,Marcel M. A. M. Mannens,Anna Kelsey,Christine Gosden,Nicholas D. Hastie,Veronica van Heyningen	1993	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), Developmental Biology and Gene Regulation (7 papers), Retinal Development and Disorders (5 papers), Congenital Ear and Nasal Anomalies (5 papers), Hedgehog Signaling Pathway Studies (3 papers), Congenital heart defects research (3 papers) and Reconstructive Facial Surgery Techniques (3 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 Human Molecular Genetics, Journal of Medical Genetics, Investigative Ophthalmology & Visual Science, Nature Genetics and European Journal of Medical Genetics.

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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