Alan Fryer

11.6k citations

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

Genetics top 1%
- Neurogenetic and Muscular Disorders Research 10
- Genomic variations and chromosomal abnormalities 8
- Genetic Syndromes and Imprinting 7
- Connective tissue disorders research 7
Physiology top 2%
- Tuberous Sclerosis Complex Research 11
Neurology top 2%
- Neurofibromatosis and Schwannoma Cases 8
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics 7
Psychiatry and Mental health top 5%
Pathology and Forensic Medicine
- Tumors and Oncological Cases 7

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
Cited by: Genetics Physiology Neurology
Journals: Nature (1 paper)The Lancet (1 paper)Nature Genetics (1 paper)
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Alan Fryer

100 papers receiving 4.3k citations

Hit Papers

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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

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

All Works

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20 of 20 papers shown

#	Work
1	De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability 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,DDD Study,David Fitzpatrick	2015	79
2	Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings European Journal of Medical Genetics ·Claire Bailey,Alan Fryer,Mark Greenslade	2015	27
3	IQ at 6 years after in utero exposure to antiepileptic drugs Neurology ·Gus A. Baker,Rebecca Bromley,Maria Briggs,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,Loretta Kerr	2014	166
4	Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions American Journal of Medical Genetics Part A ·Paul R. Mark,Brian C. Radlinski,Nathalie Coré,Alan Fryer,Edwin P. Kirk,Chad Haldeman‐Englert	2013	7
5	Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease 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,Denise Marty,Charles M. McCurdy,John B. Mulliken,Helen Murphy,Joseph Omlor,Richard M. Pauli,Judith D. Ranells,Amarillis Sanchez‐Valle,Ana Tobiasz,Lionel Van Maldergem,Angela E. Lin	2013	21
6	Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics ·Sandra M. Pasternack,Melanie Refke,Elham Paknia,Hans Christian Hennies,Thomas Franz,Niklas Schäfer,Alan Fryer,Maurice A. M. Van Steensel,Elizabeth Sweeney,Miquel Just,Clemens Grimm,Roland Kruse,Carlos Ferrándiz,Markus M. Nöthen,Utz Fischer,Regina C. Betz	2012	32
7	Multiple Malignancies in a Child with de novo TP53 Mutation Pediatric Hematology and Oncology ·Alicja Elżbieta Woźniak,Alan Fryer,R. J. Grimer,Heather Mc Dowell	2011	3
8	Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome Molecular Syndromology ·Catherine Foley,Kari E. Roberts,Naïri Tchrakian,Tim Morgan,Alan Fryer,Stephen P. Robertson,Niall Tubridy	2010	18
9	Mutations in the chromatin-associated protein ATRX Human Mutation ·Richard J. Gibbons,Takahito Wada,Christopher A. Fisher,N Malik,Matthew Mitson,David P. Steensma,Alan Fryer,David Goudie,Ian D. Krantz,Joanne Traeger‐Synodinos	2008	125
10	The clinical spectrum of mitochondrial genetic disorders Clinical Medicine ·Alan Fryer,Ruth Newbury‐Ecob,Matthew A. Kirkman,Patrick Yu‐Wai‐Man,Patrick F. Chinnery	2008	7
11	Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43) Eye ·Fayyaz Musa,Paulina Ratajczak,Joya Sahu,Sara Pentlicky,Alan Fryer,Gabriele Richard,Colin E. Willoughby	2008	21
12	Surgical implications of the Smith–Lemli–Opitz syndrome Pediatric Surgery International ·Ross Craigie,M. E. Ba'ath,Alan Fryer,Colin Baillie	2005	0
13	Smoking and Orofacial Clefts: A United Kingdom–Based Case-Control Study The Cleft Palate-Craniofacial Journal ·Julian Little,A. Cardy,M Arslan,M. Ian Gilmour,Peter Mossey,Jill Clayton‐Smith,M. L. Connor,Lisa Crampin,David Fitzpatrick,Alan Fryer,Mhairi Gilmour,Alison L. Hill,N. C. Nevin,Joyce E. A. Russell,Margo Whiteford	2004	83
14	Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? Clinical Dysmorphology ·Shane McKee,Angela Barnicoat,Alan Fryer,Frances Flinter,David McCormick,C McKeown	2001	4
15	Meier-Gorlin syndrome: Report of eight additional cases and review American Journal of Medical Genetics ·Ernie M.H.F. Bongers,John M. Opitz,Alan Fryer,Pierre Sarda,Raoul C. M. Hennekam,Brian D. Hall,Duane Superneau,Madeline Harbison,Alexis Poss,Hans van Bokhoven,Ben C.J. Hamel,Nine V.A.M. Knoers	2001	47
16	Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 Human Molecular Genetics ·Holly Duncan Craig,Murat Günel,Obed M. Cepeda,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	1998	253
17	Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8). PubMed ·Jennifer A. Scott,P. J. Howard,P. A. Smith,Alan Fryer,D L Easty,Aileen Patterson,Stephen B. Kaye	1997	7
18	MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY Developmental Medicine & Child Neurology ·David Webb,Alan Fryer,J P Osborne	1996	158
19	Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion 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,Shomi Bhattacharya	1994	93
20	Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13 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,J. H. EDWARDS,David J. Kwiatkowski,M Super,Rolf Mueller,Alan Fryer,Angus Clarke,David Webb,J. OSBORNE	1994	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), Genomic variations and chromosomal abnormalities (8 papers), Neurofibromatosis and Schwannoma Cases (8 papers), Genetic Syndromes and Imprinting (7 papers), Connective tissue disorders research (7 papers), Prenatal Screening and Diagnostics (7 papers) and Tumors and Oncological Cases (7 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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