Jill Urquhart

5.4k citations

48 papers · 1.9k indexed · h-index 23

Co-authors: Graeme C. Black Forbes Manson James O’Sullivan William G. Newman Sanjeev S. Bhaskar Sarah B. Daly Simon G. Williams Peter de Nully Brown
Topics: Connexins and lens biology (6 papers)RNA modifications and cancer (6 papers)Retinal Development and Disorders (6 papers)
Cited by: Ophthalmology Molecular Biology Genetics
Journals: Proceedings of the National Academy of Sciences Journal of Clinical Oncology Neurology
Partner nations: United Kingdom United States Israel

In The Last Decade

Jill Urquhart

48 papers receiving 1.9k citations

Peers

Countries citing papers authored by Jill Urquhart

Since Specialization

Citations

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

Fields of papers citing papers by Jill Urquhart

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jill Urquhart. 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 Jill Urquhart. The network helps show where Jill Urquhart may publish in the future.

Co-authorship network of co-authors of Jill Urquhart

This figure shows the co-authorship network connecting the top 25 collaborators of Jill Urquhart. A scholar is included among the top collaborators of Jill Urquhart 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 Jill Urquhart. Jill Urquhart 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	High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency 2021 ·Cancer Genetics ·Jamie M. Ellingford,Nick Telford,Jill Urquhart,Andrew Will,Denise Bonney,(unknown),(unknown),Bronwyn Kerr,Graeme C. Black,Robert Wynn,Stefan Meyer	1
2	A homozygous missense variant in CHRM3 associated with familial urinary bladder disease 2019 ·Clinical Genetics ·Glenda M. Beaman,(unknown),Keng Wee Teik,Jill Urquhart,(unknown),James O’Sullivan,Sanjeev S. Bhaskar,K Wood,Huw B. Thomas,Raymond T. O’Keefe,Adrian S. Woolf,Helen M. Stuart,William G. Newman	9
3	Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy 2017 ·American Journal of Medical Genetics Part A ·Rajech Sharkia,Stavit A. Shalev,(unknown),(unknown),Nathan Watemberg,Jill Urquhart,Sarah B. Daly,Sanjeev S. Bhaskar,Simon G. Williams,William G. Newman,Ronen Spiegel,Abdussalam Azem,Orly Elpeleg,Muhammad Mahajnah	9
4	Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature 2017 ·Investigative Ophthalmology & Visual Science ·Rachel L. Taylor,Mark T. Handley,Sarah Waller,Christopher Campbell,Jill Urquhart,Alison Meynert,Jamie M. Ellingford,Deirdre Donnelly,Gisela Wilcox,Iva Lloyd,Helen Mundy,David Fitzpatrick,Charu Deshpande,Jill Clayton‐Smith,Graeme C. Black	24
5	Non lethal Raine syndrome and differential diagnosis 2016 ·European Journal of Medical Genetics ·Siham Chafai Elalaoui,(unknown),Ilham Ratbi,Jill Urquhart,James O’Sullivan,Sanjeev S. Bhaskar,Simon G. Williams,(unknown),Jaber Lyahyai,(unknown),Imane Cherkaoui Jaouad,(unknown),William G. Newman,Abdelaziz Sefiani	32
6	Exploring the genetic basis of 3MC syndrome: Findings in 12 further families 2016 ·American Journal of Medical Genetics Part A ·Jill Urquhart,R. C. Roberts,(unknown),Stavit A. Shalev,(unknown),Sheela Nampoothiri,Yves Sznajer,Nicole Revençu,(unknown),Mohnish Suri,Jamie M. Ellingford,Simon G. Williams,Sanjeev S. Bhaskar,Jill Clayton‐Smith	22
7	MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma 2015 ·Proceedings of the National Academy of Sciences ·Iván Conte,Kristen D. Hadfield,Sara Barbato,Sabrina Carrella,Mariateresa Pizzo,(unknown),Annamaria Carissimo,Marianthi Karali,Louise F. Porter,Jill Urquhart,(unknown),James O’Sullivan,Forbes Manson,Stephan C. F. Neuhauss,Sandro Banfi,Graeme C. Black	84
8	Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2 2015 ·Journal of Human Genetics ·Panagiotis I. Sergouniotis,Jill Urquhart,Simon G. Williams,Sanjeev S. Bhaskar,Graeme C. Black,Simon C. Lovell,David J. Whitby,William G. Newman,Jill Clayton‐Smith	11
9	Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome 2015 ·Journal of Human Genetics ·Jill Urquhart,Simon G. Williams,Sanjeev S. Bhaskar,Naomi L. Bowers,Jill Clayton‐Smith,William G. Newman	22
10	Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy 2015 ·Investigative Ophthalmology & Visual Science ·Rachel Gillespie,Jill Urquhart,Simon C. Lovell,Susmito Biswas,Neil R. A. Parry,Daniel F. Schorderet,Iva Lloyd,Jill Clayton‐Smith,Graeme C. Black	20
11	Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth 2011 ·The American Journal of Human Genetics ·Dan Hanson,Philip Murray,James O’Sullivan,Jill Urquhart,Sarah B. Daly,Sanjeev S. Bhaskar,Leslie G. Biesecker,Mars Skae,Claire E. L. Smith,Trevor Cole,Jeremy Kirk,Kate Chandler,Helen Kingston,Dian Donnai,Peter Clayton,Graeme C. Black	88
12	Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3 2011 ·American Journal of Medical Genetics Part A ·Emma M. Jenkinson,Helen Kingston,Jill Urquhart,Naz Khan,(unknown),(unknown),Yanick J. Crow,J.R. Davis,Dorothy Trump,William G. Newman	1
13	Expanding the clinical spectrum of SLC29A3 gene defects 2010 ·European Journal of Medical Genetics ·Ronen Spiegel,(unknown),Michael F. Buckley,Yanick J. Crow,Jill Urquhart,Yoseph Horovitz,Yardena Tenenbaum‐Rakover,William G. Newman,Dian Donnai,Stavit A. Shalev	35
14	Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria 2010 ·The American Journal of Human Genetics ·Mary O’Driscoll,Sarah B. Daly,Jill Urquhart,Graeme C. Black,Daniela T. Pilz,Knut Brockmann,Meriel McEntagart,Ghada M. H. Abdel‐Salam,Maha S. Zaki,Nicole I. Wolf,Roger L. Ladda,Susan L. Sell,Stefano D’Arrigo,Waney Squier,William B. Dobyns,John H. Livingston,Yanick J. Crow	92
15	Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome? 2010 ·American Journal of Medical Genetics Part A ·Shubha R. Phadke,Sheetal Sharda,Jill Urquhart,Emma M. Jenkinson,(unknown),Dorothy Trump	3
16	The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 2009 ·The American Journal of Human Genetics ·Dan Hanson,Philip Murray,Amit Sud,Samia A. Temtamy,Mona Aglan,Andrea Superti‐Furga,Sue Holder,Jill Urquhart,Emma Hilton,Forbes Manson,Peter Scambler,Graeme C. Black,Peter Clayton	81
17	4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate 2009 ·European Journal of Medical Genetics ·Jill Urquhart,Graeme C. Black,Jill Clayton‐Smith	31
18	“Yes…But…”The Unintended Effects of Accountability Policy on Technology Infusion and Innovation 2008 ·Society for Information Technology & Teacher Education International Conference ·(unknown),Walter Heinecke,Carolyn M. Callahan,Jill Urquhart	1
19	Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination 2007 ·Human Molecular Genetics ·Emma Hilton,Forbes Manson,Jill Urquhart,Jennifer J. Johnston,Anne Slavotinek,Peter Hedera,Eva‐Lena Stattin,Ann Nordgren,Leslie G. Biesecker,Graeme C. Black	40
20	Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome 2006 ·American Journal of Ophthalmology ·Michel Michaelides,Jill Urquhart,Graham E. Holder,Marie Restori,(unknown),Forbes Manson,Graeme C. Black	18

About Jill Urquhart

Jill Urquhart is a scholar working on Ophthalmology, Genetics and Genetics, having authored 48 papers that have together received 1.9k indexed citations. Recurring topics across this work include Connexins and lens biology (6 papers), RNA modifications and cancer (6 papers) and Retinal Development and Disorders (6 papers). The work is most often cited by research in Ophthalmology (331 citations), Molecular Biology (1.3k citations) and Genetics (519 citations). Jill Urquhart has collaborated with scholars based in United Kingdom, United States and Israel. Frequent co-authors include Graeme C. Black, Forbes Manson, James O’Sullivan, William G. Newman, Sanjeev S. Bhaskar, Sarah B. Daly, Simon G. Williams, Peter de Nully Brown, I. D. Millar and Miriam J. Smith. Their work appears in journals such as Proceedings of the National Academy of Sciences, Journal of Clinical Oncology and 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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