Alan Fryer

11.6k citations

103 papers · 4.5k indexed · 1 hit paper · h-index 33

Molecular Biology top 5%
Genetics top 1%
Physiology top 2%
Neurology top 2%
Pediatrics, Perinatology and Child Health top 2%

Co-authors: David Webb J P Osborne J. M. Connor A H Chalmers Jill Clayton‐Smith John R.W. Yates Ian S. Fraser S. Povey
Topics: Tuberous Sclerosis Complex Research (11 papers)Neurogenetic and Muscular Disorders Research (10 papers)Genomic variations and chromosomal abnormalities (8 papers)
Cited by: Genetics Physiology Neurology
Journals: Nature The Lancet Nature Genetics
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Alan Fryer

100 papers receiving 4.3k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Epidemiology of Tuberous Sclerosis

1991 515 citations Alan Fryer, David Webb et al. profile →

Peers

Countries citing papers authored by Alan Fryer

Since Specialization

Citations

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

Fields of papers citing papers by Alan Fryer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Alan Fryer

This figure shows the co-authorship network connecting the top 25 collaborators of Alan Fryer. A scholar is included among the top collaborators of Alan Fryer 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 Alan Fryer. Alan Fryer 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	De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability 2015 ·American Journal of Medical Genetics Part A ·Michael Parker,Alan Fryer,Deborah Shears,Katherine Lachlan,Shane McKee,Alex Magee,Shehla Mohammed,Pradeep Vasudevan,Soo‐Mi Park,Valérie Benoît,Damien Lederer,Isabelle Maystadt,(unknown),David Fitzpatrick	79
2	Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings 2015 ·European Journal of Medical Genetics ·Claire Bailey,Alan Fryer,Mark Greenslade	27
3	IQ at 6 years after in utero exposure to antiepileptic drugs 2014 ·Neurology ·Gus A. Baker,Rebecca Bromley,(unknown),Christopher P. Cheyne,Morris J. Cohen,Marta García‐Fiñana,Alison Gummery,Rachel Kneen,David W. Loring,George Mawer,Kimford J. Meador,Rebekah Shallcross,Jill Clayton‐Smith,C. Barrie,John R. Beech,Alison Booth,Pete Dixon,Alan Fryer,(unknown)	166
4	Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions 2013 ·American Journal of Medical Genetics Part A ·Paul R. Mark,(unknown),Nathalie Coré,Alan Fryer,Edwin P. Kirk,Chad Haldeman‐Englert	7
5	Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease 2013 ·American Journal of Medical Genetics Part A ·Helga V. Toriello,Miriam Erick,Jean‐Luc Alessandri,Diana M. Bailey,Nicola Brunetti‐Pierri,Helen M. Cox,Alan Fryer,(unknown),Charles M. McCurdy,John B. Mulliken,Helen Murphy,(unknown),Richard M. Pauli,Judith D. Ranells,(unknown),(unknown),Lionel Van Maldergem,Angela E. Lin	21
6	Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex 2012 ·The American Journal of Human Genetics ·Sandra M. Pasternack,(unknown),Elham Paknia,Hans Christian Hennies,(unknown),Niklas Schäfer,Alan Fryer,Maurice A. M. Van Steensel,Elizabeth Sweeney,(unknown),Clemens Grimm,Roland Kruse,Carlos Ferrándiz,Markus M. Nöthen,Utz Fischer,Regina C. Betz	32
7	Multiple Malignancies in a Child with de novo TP53 Mutation 2011 ·Pediatric Hematology and Oncology ·(unknown),Alan Fryer,R. J. Grimer,(unknown)	3
8	Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome 2010 ·Molecular Syndromology ·Catherine Foley,Kari E. Roberts,Naïri Tchrakian,Tim Morgan,Alan Fryer,Stephen P. Robertson,Niall Tubridy	18
9	Mutations in the chromatin-associated protein ATRX 2008 ·Human Mutation ·Richard J. Gibbons,Takahito Wada,Christopher A. Fisher,N Malik,(unknown),David P. Steensma,Alan Fryer,David Goudie,Ian D. Krantz,Joanne Traeger‐Synodinos	125
10	The clinical spectrum of mitochondrial genetic disorders 2008 ·Clinical Medicine ·Alan Fryer,Ruth Newbury‐Ecob,Matthew A. Kirkman,Patrick Yu‐Wai‐Man,Patrick F. Chinnery	7
11	Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43) 2008 ·Eye ·Fayyaz Musa,Paulina Ratajczak,Joya Sahu,(unknown),Alan Fryer,Gabriele Richard,Colin E. Willoughby	21
12	Surgical implications of the Smith–Lemli–Opitz syndrome 2005 ·Pediatric Surgery International ·Ross Craigie,(unknown),Alan Fryer,Colin Baillie	0
13	Smoking and Orofacial Clefts: A United Kingdom–Based Case-Control Study 2004 ·The Cleft Palate-Craniofacial Journal ·Julian Little,(unknown),(unknown),M. Ian Gilmour,Peter Mossey,Jill Clayton‐Smith,M. L. Connor,Lisa Crampin,David Fitzpatrick,Alan Fryer,(unknown),Alison L. Hill,N. C. Nevin,Joyce E. A. Russell,Margo Whiteford	83
14	Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? 2001 ·Clinical Dysmorphology ·Shane McKee,Angela Barnicoat,Alan Fryer,Frances Flinter,(unknown),C McKeown	4
15	Meier-Gorlin syndrome: Report of eight additional cases and review 2001 ·American Journal of Medical Genetics ·Ernie M.H.F. Bongers,John M. Opitz,Alan Fryer,Pierre Sarda,Raoul C. M. Hennekam,(unknown),Duane Superneau,(unknown),(unknown),Hans van Bokhoven,Ben C.J. Hamel,Nine V.A.M. Knoers	47
16	Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 1998 ·Human Molecular Genetics ·(unknown),Murat Günel,(unknown),Eric W. Johnson,Louis J. Ptáček,Gary K. Steinberg,Christopher S. Ogilvy,Michel J. Berg,Steve Crawford,R. Michael Scott,Elisabeth Steichen‐Gersdorf,R.A. Sabroe,Claire Kennedy,Gabrielle Mettler,M Beis,Alan Fryer,Issam A. Awad,Richard P. Lifton	253
17	Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8). 1997 ·PubMed ·Jennifer A. Scott,P. J. Howard,(unknown),Alan Fryer,D L Easty,(unknown),Stephen B. Kaye	7
18	MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY 1996 ·Developmental Medicine & Child Neurology ·David Webb,Alan Fryer,J P Osborne	158
19	Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion 1994 ·Nature Genetics ·Kevin Gregory-Evans,Alan Fryer,C.F. Inglehearn,Josephine Duvall-Young,Joanne L. Whittaker,Cheryl Y. Gregory,Rachel Butler,Neil D. Ebenezer,David M. Hunt,(unknown)	93
20	Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13 1994 ·Annals of Human Genetics ·Sue Povey,Mari‐Wyn Burley,(unknown),Frances Benham,David M. Hunt,S.J. Jeremiah,Donald Franklin,Godfrey T. Gillett,Stavros Malas,E.B. Robson,Patricia Tippett,(unknown),David J. Kwiatkowski,M Super,Rolf Mueller,Alan Fryer,Angus Clarke,David Webb,(unknown)	196

About Alan Fryer

Alan Fryer is a scholar working on Developmental Biology, Genetics and Genetics, having authored 103 papers that have together received 4.5k indexed citations. Recurring topics across this work include Tuberous Sclerosis Complex Research (11 papers), Neurogenetic and Muscular Disorders Research (10 papers) and Genomic variations and chromosomal abnormalities (8 papers). The work is most often cited by research in Genetics (1.4k citations), Physiology (1.2k citations) and Neurology (667 citations). Alan Fryer has collaborated with scholars based in United Kingdom, United States and Netherlands. Frequent co-authors include David Webb, J P Osborne, J. M. Connor, A H Chalmers, Jill Clayton‐Smith, John R.W. Yates, Ian S. Fraser, S. Povey, Alan D. Yates and Meena Upadhyaya. Their work appears in journals such as Nature, The Lancet and Nature 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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