Jill Urquhart

5.4k citations

48 papers · 1.9k indexed · h-index 23

Ophthalmology top 2%
Molecular Biology top 5%
- Connexins and lens biology 6
- RNA modifications and cancer 6
- Retinal Development and Disorders 6
- Ubiquitin and proteasome pathways 4
Genetics top 5%
- Genetics and Neurodevelopmental Disorders 5
- Congenital Ear and Nasal Anomalies 5
- Genomics and Rare Diseases 4
- Genomic variations and chromosomal abnormalities 4
Rheumatology top 5%
Neurology top 10%

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
Cited by: Ophthalmology Molecular Biology Genetics
Journals: Proceedings of the National Academy of Sciences (1 paper)Journal of Clinical Oncology (1 paper)Neurology (1 paper)
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

The 25 scholars most cited alongside Jill Urquhart, 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 Jill Urquhart Line = papers co-authored together Jill Urquhart links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency Cancer Genetics ·Jamie M. Ellingford,Nick Telford,Jill Urquhart,Andrew Will,Denise Bonney,Ben Adams,Rachel E Dixon,Bronwyn Kerr,Graeme C. Black,Robert Wynn,Stefan Meyer	2021	1
2	A homozygous missense variant in CHRM3 associated with familial urinary bladder disease Clinical Genetics ·Glenda M. Beaman,Gabriella Galatà,Keng Wee Teik,Jill Urquhart,Ali Aishah,James O’Sullivan,Sanjeev S. Bhaskar,K Wood,Huw B. Thomas,Raymond T. O’Keefe,Adrian S. Woolf,Helen M. Stuart,William G. Newman	2019	9
3	Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy American Journal of Medical Genetics Part A ·Rajech Sharkia,Stavit A. Shalev,Abdelnaser Zalan,Milit Marom‐David,Nathan Watemberg,Jill Urquhart,Sarah B. Daly,Sanjeev S. Bhaskar,Simon G. Williams,William G. Newman,Ronen Spiegel,Abdussalam Azem,Orly Elpeleg,Muhammad Mahajnah	2017	9
4	Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature 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	2017	24
5	Non lethal Raine syndrome and differential diagnosis European Journal of Medical Genetics ·Siham Chafai Elalaoui,Nada Al-Sheqaih,Ilham Ratbi,Jill Urquhart,James O’Sullivan,Sanjeev S. Bhaskar,Simon G. Williams,Mustapha Elalloussi,Jaber Lyahyai,L. Sbihi,Imane Cherkaoui Jaouad,Abdelhafid Sbihi,William G. Newman,Abdelaziz Sefiani	2016	32
6	Exploring the genetic basis of 3MC syndrome: Findings in 12 further families American Journal of Medical Genetics Part A ·Jill Urquhart,R. C. Roberts,Deepthi De Silva,Stavit A. Shalev,Elena Chervinsky,Sheela Nampoothiri,Yves Sznajer,Nicole Revençu,Romesh Gunasekera,Mohnish Suri,Jamie M. Ellingford,Simon G. Williams,Sanjeev S. Bhaskar,Jill Clayton‐Smith	2016	22
7	MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma Proceedings of the National Academy of Sciences ·Iván Conte,Kristen D. Hadfield,Sara Barbato,Sabrina Carrella,Mariateresa Pizzo,Rajeshwari Subray Bhat,Annamaria Carissimo,Marianthi Karali,Louise F. Porter,Jill Urquhart,Sofie Hateley,James O’Sullivan,Forbes Manson,Stephan C. F. Neuhauss,Sandro Banfi,Graeme C. Black	2015	84
8	Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2 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	2015	11
9	Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome Journal of Human Genetics ·Jill Urquhart,Simon G. Williams,Sanjeev S. Bhaskar,Naomi L. Bowers,Jill Clayton‐Smith,William G. Newman	2015	22
10	Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy 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	2015	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 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	2011	88
12	Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3 American Journal of Medical Genetics Part A ·Emma M. Jenkinson,Helen Kingston,Jill Urquhart,Naz Khan,Athalie Melville,Martin Swinton,Yanick J. Crow,J.R. Davis,Dorothy Trump,William G. Newman	2011	1
13	Expanding the clinical spectrum of SLC29A3 gene defects European Journal of Medical Genetics ·Ronen Spiegel,Simon T. Cliffe,Michael F. Buckley,Yanick J. Crow,Jill Urquhart,Yoseph Horovitz,Yardena Tenenbaum‐Rakover,William G. Newman,Dian Donnai,Stavit A. Shalev	2010	35
14	Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria 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	2010	92
15	Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome? American Journal of Medical Genetics Part A ·Shubha R. Phadke,Sheetal Sharda,Jill Urquhart,Emma M. Jenkinson,Shobhit Chawala,Dorothy Trump	2010	3
16	The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 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	2009	81
17	4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate European Journal of Medical Genetics ·Jill Urquhart,Graeme C. Black,Jill Clayton‐Smith	2009	31
18	“Yes…But…”The Unintended Effects of Accountability Policy on Technology Infusion and Innovation Society for Information Technology & Teacher Education International Conference ·Tammy Pandina Scot,Walter Heinecke,Carolyn M. Callahan,Jill Urquhart	2008	1
19	Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination 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	2007	40
20	Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome American Journal of Ophthalmology ·Michel Michaelides,Jill Urquhart,Graham E. Holder,Marie Restori,Nuha Kayali,Forbes Manson,Graeme C. Black	2006	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), Retinal Development and Disorders (6 papers), Genetics and Neurodevelopmental Disorders (5 papers), Congenital Ear and Nasal Anomalies (5 papers), Genomics and Rare Diseases (4 papers), Ubiquitin and proteasome pathways (4 papers) and Genomic variations and chromosomal abnormalities (4 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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