Jane A. Hurst

19.2k citations

126 papers · 8.5k · 3 hit papers · h-index 35

Impact in

Endocrine and Autonomic Systems top 0.2%
- Regulation of Appetite and Obesity
Developmental Biology top 1%

Papers in

Genetics 55
- Connective tissue disorders research 11
- Craniofacial Disorders and Treatments 10
- Genomics and Rare Diseases 8
- Genetic Syndromes and Imprinting 8
- Genomic variations and chromosomal abnormalities 7
Molecular Biology 36
- Congenital heart defects research 7

Co-authors: Cecilia Lai (2 shared papers)Faraneh Vargha‐Khadem (2 shared papers)Simon E. Fisher (2 shared papers)Anthony P. Monaco (2 shared papers)Carl Montague (1 shared paper)I. Sadaf Farooqi (1 shared paper)Johannes B. Prins (1 shared paper)Nicholas J. Wareham (1 shared paper)
Journals: Journal of Medical Genetics (11 papers)European Journal of Human Genetics (5 papers)Nature Genetics (4 papers)Clinical Genetics (4 papers)The American Journal of Human Genetics (3 papers)
Partner nations: United Kingdom United States Canada

In The Last Decade

Jane A. Hurst

108 papers receiving 7.9k citations

Jane A. Hurst's Hit Papers

align trajectories log scale

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome 2004 · 981 citations

Peers

Countries citing papers authored by Jane A. Hurst

Since Specialization

Citations

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

Fields of papers citing papers by Jane A. Hurst

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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

20 of 20 papers shown

Showing the 20 most-cited of 126 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Congenital leptin deficiency is associated with severe early-onset obesity in humans Nature ·Carl Montague, I. Sadaf Farooqi, Jonathan P. Whitehead, Maria A. Soos, Harald Rau, Nicholas J. Wareham, Ciaran Sewter, Janet E. Digby, Shehla Mohammed, Jane A. Hurst, Christopher H. Cheetham, Alison R. Earley, Anthony Barnett, Johannes B. Prins, Stephen O’Rahilly Hit paper breakdown →	1997	2367
2	A forkhead-domain gene is mutated in a severe speech and language disorder Nature ·Cecilia Lai, Simon E. Fisher, Jane A. Hurst, Faraneh Vargha‐Khadem, Anthony P. Monaco Hit paper breakdown →	2001	1437
3	Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Nature Genetics ·Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal, Jane A. Hurst, Bert B.A. de Vries, Irene M. Janssen, W A van der Vliet, Erik Huys, Pieter J. de Jong, Ben C.J. Hamel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman, Ad Geurts van Kessel Hit paper breakdown →	2004	981
4	Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome Nature Genetics ·Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer, Ze Cheng, Regina Regan, Jane A. Hurst, Helen Stewart, Sue Price, Edward Blair, Raoul C. M. Hennekam, Carrie Fitzpatrick, Rick Segraves, Todd Richmond, Cheryl Guiver, Donna G. Albertson, Daniel Pinkel, Peggy S. Eis, Stuart Schwartz, Samantha J.L. Knight, Evan E. Eichler	2006	453
5	An extended Family with a Dominantly Inherited Speech Disorder Developmental Medicine & Child Neurology ·Jane A. Hurst, M Baraitser, Eric Auger, Francisco Julio Pellicer Graham, Stefan Norell	1990	262
6	Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification Nature Genetics ·Andrew O.M. Wilkie, Zequn Tang, Navaratnam Elanko, Sinéad Walsh, Stephen R.F. Twigg, Jane A. Hurst, Steven A. Wall, Krystyńa Chrzańowska, Robert E. Maxson	2000	246
7	Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis PEDIATRICS ·Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst, Jayaratnam Jayamohan, David Johnson, Samantha J.L. Knight, Tracy Lester, Peter G. Richards, Stephen R.F. Twigg, Steven A. Wall	2010	212
8	The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder The American Journal of Human Genetics ·Cecilia Lai, Simon E. Fisher, Jane A. Hurst, Elaine R. Levy, Shirley Hodgson, Margaret Fox, S. JEREMIAH, S. Povey, D. Curtis Jamison, Eric D. Green, Faraneh Vargha‐Khadem, Anthony P. Monaco	2000	157
9	Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis Journal of Medical Genetics ·Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, C. R. Boustred, Jane A. Hurst, Lucy Jenkins, Manju A. Kurian, Richard H. Scott	2016	150
10	Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems The American Journal of Human Genetics ·Alice S. Brooks, Aida M. Bertoli‐Avella, Grzegorz Burzynski, Guido J. Breedveld, Jan Osinga, Ludolf G. Boven, Jane A. Hurst, Grazia M.S. Mancini, Maarten H. Lequin, I.F.M. de Coo, Ivana Matera, Esther de Graaff, Carel Meijers, Patrick J. Willems, Dick Tibboel, Ben A. Oostra, Robert M.W. Hofstra	2005	123
11	Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families American Journal of Medical Genetics ·R Hughes-Benzie, Giuseppe Pilia, J.Y. Xuan, Alasdair G. W. Hunter, Ellson Chen, Mahin Golabi, Jane A. Hurst, J. Kobori, Kathi Marymee, Roberta A Pagon, Hope H. Punnett, Susan Schelley, John Tolmie, Monica M. Wohlferd, Tom Grossman, David Schlessinger, Alex MacKenzie	1996	121
12	Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene The American Journal of Human Genetics ·Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie	2009	104
13	Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children Journal of Medical Genetics ·Lamia Mestek, Emma Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria Bitner‐Glindzicz, Mark Peters, Philip L. Beales, Hywel Williams	2018	91
14	Mutations in FAM20C also identified in non‐lethal osteosclerotic bone dysplasia Clinical Genetics ·Michael A. Simpson, Angela E. Scheuerle, Jane A. Hurst, Patton Ma, Helen Stewart, Andrew H. Crosby	2009	91
15	Clinical dividends from the molecular genetic diagnosis of craniosynostosis American Journal of Medical Genetics Part A ·Andrew O.M. Wilkie, Elena G. Bochukova, Ruth M. S. Hansen, Indira B. Taylor, Sahan V. Rannan‐Eliya, Jo C. Byren, Steven A. Wall, Lina Ramos, (unknown), Jane A. Hurst, A O'Rourke, Louise Williams, A Seller, Tracy Lester	2006	86
16	Clinical dividends from the molecular genetic diagnosis of craniosynostosis† American Journal of Medical Genetics Part A ·Andrew O.M. Wilkie, Elena G. Bochukova, Ruth M. S. Hansen, Indira B. Taylor, Sahan V. Rannan‐Eliya, Jo C. Byren, Steven A. Wall, Lina Ramos, (unknown), Jane A. Hurst, A O'Rourke, Louise Williams, A Seller, Tracy Lester	2007	71
17	Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome Journal of Medical Genetics ·Horacio Astudillo‐de la Vega, Alison Trainer, Miriam Gordillo, Moira Crosier, Hülya Kayserili, Flemming Skovby, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, E Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Raoul C. M. Hennekam, Ethylin Wang Jabs	2009	70
18	A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies American Journal of Medical Genetics Part A ·Marja Majava, Kristien Hoornaert, Deborah Bartholdi, Mieke C. Bouma, Katelijne Bouman, Marta Carrera, Koenraad Devriendt, Jane A. Hurst, George Kitsos, Dunja Niedrist, Michael B. Petersen, Debbie Shears, Irene Stolte‐Dijkstra, Johanna M. van Hagen, Leena Ala‐Kokko, Minna Männikkö, Geert Mortier	2007	68
19	Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. Journal of Medical Genetics ·Susan Lindsay, Mark Ireland, Ottie O’Brien, Jill Clayton‐Smith, Jane A. Hurst, Jeff Mann, Tim Cole, J Sampson, S Slaney, David Schlessinger, John Burn, Giuseppe Pilia	1997	60
20	Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. Journal of Medical Genetics ·Jane A. Hurst, Michael R. Markiewicz, Dhavendra Kumar, E M Brett	1988	53

About Jane A. Hurst

Jane A. Hurst is a scholar working on Genetics, Molecular Biology, Surgery, Pediatrics, Perinatology and Child Health and Genetics, having authored 126 papers that have together received 8.5k indexed citations. Recurring topics across this work include Connective tissue disorders research (11 papers), Craniofacial Disorders and Treatments (10 papers), Congenital limb and hand anomalies (9 papers), Genomics and Rare Diseases (8 papers), Genetic Syndromes and Imprinting (8 papers), Prenatal Screening and Diagnostics (8 papers), Congenital heart defects research (7 papers) and Genomic variations and chromosomal abnormalities (7 papers). The work is most often cited by research in Endocrine and Autonomic Systems (1.7k citations), Developmental Biology (291 citations), Genetics (3.1k citations), Genetics (600 citations) and Nutrition and Dietetics (862 citations). Jane A. Hurst has collaborated with scholars based in United Kingdom, United States and Canada. Frequent co-authors include Cecilia Lai, Faraneh Vargha‐Khadem, Simon E. Fisher, Anthony P. Monaco, Carl Montague, I. Sadaf Farooqi, Johannes B. Prins, Nicholas J. Wareham, Stephen O’Rahilly and Anthony Barnett. Their work appears in journals such as Journal of Medical Genetics, European Journal of Human Genetics, Nature Genetics, Clinical Genetics and The American Journal of Human 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.

Explore authors with similar magnitude of impact

Jane A. Hurst

Impact in

Papers in i

In The Last Decade

Jane A. Hurst

Jane A. Hurst's Hit Papers

Peers

Countries citing papers authored by Jane A. Hurst

Fields of papers citing papers by Jane A. Hurst

All Works

About Jane A. Hurst

Explore authors with similar magnitude of impact

Papers in