Louise Brueton

5.7k citations

34 papers · 1.5k indexed · h-index 24

Developmental Biology top 5%
Genetics top 5%
- Neurogenetic and Muscular Disorders Research 8
- Genomic variations and chromosomal abnormalities 8
- Genetic Syndromes and Imprinting 3
Genetics top 5%
- Neurogenetic and Muscular Disorders Research 8
- Genomic variations and chromosomal abnormalities 8
- Genetic Syndromes and Imprinting 3
Molecular Biology top 10%
- Congenital heart defects research 3
- Muscle Physiology and Disorders 2
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics 3
Physiology
- Lysosomal Storage Disorders Research 2
Cardiology and Cardiovascular Medicine
- Cardiomyopathy and Myosin Studies 2

Co-authors: P. Cox Eamonn R. Maher Neil V. Morgan Peter Scambler William Reardon Susan Huson Lewis B. Holmes Douglas P. Mortlock
Cited by: Developmental Biology Genetics
Journals: The American Journal of Human Genetics (3 papers)Human Molecular Genetics (1 paper)Human Reproduction (1 paper)
Partner nations: United Kingdom United States Germany

In The Last Decade

Louise Brueton

34 papers receiving 1.5k citations

Peers

Countries citing papers authored by Louise Brueton

Since Specialization

Citations

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

Fields of papers citing papers by Louise Brueton

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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

20 of 20 papers shown

#	Work
1	A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Journal of Medical Genetics ·Christiane Zweier,Cornelia Kraus,Louise Brueton,Trevor Cole,Franziska Degenhardt,Hartmut Engels,Gabriele Gillessen‐Kaesbach,Luitgard Graul‐Neumann,Denise Horn,Juliane Hoyer,Walter Just,Anita Rauch,André Reis,Bernd Wollnik,Michael Zeschnigk,Hermann‐Josef Lüdecke,Dagmar Wieczorek	2013	32
2	Mutations in GRIP1 cause Fraser syndrome Journal of Medical Genetics ·Maartje J. Vogel,Patrick van Zon,Louise Brueton,Marleen Gijzen,Marc C van Tuil,P. Cox,Denny Schanze,Ariana Kariminejad,Siavash Ghaderi‐Sohi,Edward Blair,Martin Zenker,Peter Scambler,Hans Kristian Ploos van Amstel,Mieke M. van Haelst	2012	58
3	TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype European Journal of Human Genetics ·Chirag Patel,Lee Silcock,Dominic McMullan,Louise Brueton,Helen Cox	2012	39
4	Neuropathy in a Human Without the PMP22 Gene Archives of Neurology ·Mario Saporta,István Katona,Xuebao Zhang,Helen Roper,Louise S. McClelland,Fiona MacDonald,Louise Brueton,Julian Blake,Ueli Suter,Mary M. Reilly,Michael E. Shy,Jun Li	2011	20
5	Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth The American Journal of Human Genetics ·Pekka Nieminen,Neil V. Morgan,Aimée L Fenwick,Satu Parmanen,Lotta Veistinen,Marja L. Mikkola,Peter J. van der Spek,Andrew S. Giraud,Louise M. Judd,Sirpa Arte,Louise Brueton,Steven A. Wall,Irene M. J. Mathijssen,Eamonn R. Maher,Andrew O.M. Wilkie,Sven Kreiborg,Irma Thesleff	2011	135
6	Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations Neuromuscular Disorders ·Fatemeh Geranmayeh,Emma Clement,Lucy Feng,Caroline A. Sewry,J. Garcia Pagan,R. Mein,Stephen Abbs,Louise Brueton,Anne-Marie Childs,Heinz Jungbluth,Christian G De Goede,Bryan Lynch,Jean‐Pierre Lin,Gabriel Chow,Carlos de Sousa,Olivia O’Mahony,Anirban Majumdar,Volker Straub,K. Bushby,Francesco Muntoni	2010	133
7	Griscelli syndrome type 1: a report of two cases and review of the literature Clinical Dysmorphology ·Ellen Thomas,Lisa Walker,Sunil Pullaperuma,Beatrice Cooper,Louise Brueton,Geneviève de Saint Basile,Mohnish Suri,Angela F. Brady	2009	10
8	Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) European Journal of Human Genetics ·Tod Fullston,Louise Brueton,Tracey Willis,Sunny Philip,Lesley MacPherson,Merran Finnis,Jozef Gécz,Jenny Morton	2009	26
9	A survey of assisted reproductive technology births and imprinting disorders Human Reproduction ·Sarah Bowdin,Cathy Allen,Gail Kirby,Louise Brueton,Masoud Afnan,Christopher L. R. Barratt,Jackson Kirkman‐Brown,Robert F. Harrison,Eamonn R. Maher,William Reardon	2007	117
10	Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome The American Journal of Human Genetics ·Neil V. Morgan,Louise Brueton,P. Cox,Marie T. Greally,John Tolmie,Shanaz Pasha,Irene A. Aligianis,Hans van Bokhoven,Tamás Marton,Lihadh Al‐Gazali,Jenny E.V. Morton,Christine Oley,Colin A. Johnson,Richard C. Trembath,Han G. Brunner,Eamonn R. Maher	2006	98
11	The tale of a nail sign in chromosome 4q34 deletion syndrome Clinical Dysmorphology ·Julie Vogt,E. Ryan,Marc Tischkowitz,William Reardon,Louise Brueton	2006	26
12	Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1 American Journal of Medical Genetics Part A ·Wenqi Zeng,Hanlin Gao,Louise Brueton,Tim Hutchin,George F. Gray,Anupam Chakrapani,S. E. Olpin,Vivian E. Shih	2006	19
13	Progressive multilayered banded skin in Winchester syndrome Journal of the American Academy of Dermatology ·Rachel U Sidwell,Louise Brueton,Sophie Grabczynska,Nick Francis,R.C.D. Staughton	2004	11
14	Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy American Journal of Medical Genetics ·Micheala A. Aldred,Salim Aftimos,Christine M Hall,Katie S. Waters,Rajesh V. Thakker,Richard C. Trembath,Louise Brueton	2002	64
15	MURCS association with encephalocele Clinical Dysmorphology ·Mohnish Suri,Louise Brueton,N. Venkat-Raman,P. Cox	2000	7
16	Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome The American Journal of Human Genetics ·Frances R. Goodman,Chiara Bacchelli,Angela F. Brady,Louise Brueton,Jean‐Pierre Fryns,Douglas P. Mortlock,Jeffrey W. Innis,Lewis B. Holmes,Alan E. Donnenfeld,Murray Feingold,Frits A. Beemer,Raoul C. M. Hennekam,Peter Scambler	2000	189
17	Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis American Journal of Medical Genetics ·P. Cox,Louise Brueton,Karl W. Murphy,Viki Worthington,Predrag Bjelogrlic,Edgar Janis Lazda,Neil J. Sabire,Caroline A. Sewry	1999	31
18	VACTERL with hydrocephalus in twins due to Fanconi anemia FA: Mutation in the FAC gene American Journal of Medical Genetics ·P. Cox,Rachel Gibson,Neil Morgan,Louise Brueton	1997	2
19	Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother Neuromuscular Disorders ·Phillip R.J. Barnes,Dipak Kanabar,Louise Brueton,John Newsom–Davis,Susan Huson,Nicholas P. Mann,David Hilton‐Jones	1995	26
20	Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies American Journal of Medical Genetics ·Kokila Chotai,Louise Brueton,Lynne van Herwerden,Christine Garrett,Georg Klaus Hinkel,Albert Schinzel,Robert F. Mueller,Frank Speleman,Robin M. Winter	1994	38

About Louise Brueton

Louise Brueton is a scholar working on Genetics, Developmental Biology and Genetics, having authored 34 papers that have together received 1.5k indexed citations. Recurring topics across this work include Neurogenetic and Muscular Disorders Research (8 papers), Genomic variations and chromosomal abnormalities (8 papers), Genetic Syndromes and Imprinting (3 papers), Congenital heart defects research (3 papers), Prenatal Screening and Diagnostics (3 papers), Muscle Physiology and Disorders (2 papers), Lysosomal Storage Disorders Research (2 papers) and Cardiomyopathy and Myosin Studies (2 papers). The work is most often cited by research in Developmental Biology (59 citations), Genetics (604 citations) and Genetics (198 citations). Louise Brueton has collaborated with scholars based in United Kingdom, United States and Germany. Frequent co-authors include P. Cox, Eamonn R. Maher, Neil V. Morgan, Peter Scambler, William Reardon, Susan Huson, Lewis B. Holmes, Douglas P. Mortlock, Frances R. Goodman and Chiara Bacchelli. Their work appears in journals such as The American Journal of Human Genetics, Human Molecular Genetics and Human Reproduction.

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