Alan E Fryer

11.9k citations

156 papers · 9.1k · 1 hit paper · h-index 50

Impact in

Genetics top 0.5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
Physiology top 1%
- Tuberous Sclerosis Complex Research

Papers in

Genetics 67
- Genomic variations and chromosomal abnormalities 15
- Genomics and Rare Diseases 13
- Genetics and Neurodevelopmental Disorders 12
- Connective tissue disorders research 11
- Neurogenetic and Muscular Disorders Research 11
Molecular Biology 64
- Epigenetics and DNA Methylation 9

Co-authors: David W. Webb (4 shared papers)John P. Osborne (4 shared papers)J. Michael Connor (2 shared papers)Ainsley H. Chalmers (3 shared papers)Jill Clayton‐Smith (9 shared papers)S. Povey (1 shared paper)Ian S. Fraser (1 shared paper)John R.W. Yates (1 shared paper)
Journals: Journal of Medical Genetics (19 papers)The American Journal of Human Genetics (12 papers)Nature Genetics (8 papers)Archives of Disease in Childhood (4 papers)Human Mutation (4 papers)
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Alan E Fryer

152 papers receiving 8.6k citations

Alan E Fryer's Hit Papers

align trajectories log scale

Epidemiology of Tuberous Sclerosis 1991 · 571 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

1991 Annals of the New York Academy of Sciences

Peers

Countries citing papers authored by Alan E Fryer

Since Specialization

Citations

This map shows the geographic impact of Alan E 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 E 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 E Fryer more than expected).

Fields of papers citing papers by Alan E Fryer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 156 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Epidemiology of Tuberous Sclerosis Annals of the New York Academy of Sciences ·J. OSBORNE, Alan E Fryer, David W. Webb Hit paper breakdown →	1991	571
2	EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9 The Lancet ·Alan E Fryer, J. Michael Connor, S. Povey, John R.W. Yates, Ainsley H. Chalmers, Ian S. Fraser, Alan D. Yates, John P. Osborne	1987	418
3	Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing Nature Genetics ·Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas W. Fitzgerald	2016	336
4	The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs Journal of Neurology Neurosurgery & Psychiatry ·Rebecca Bromley, G. E. Mawer, Michelle Briggs, Christopher P. Cheyne, Jill Clayton‐Smith, Marta García‐Fiñana, Rachel Kneen, S. B. Lucas	2013	289
5	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 Kenneth Steinberg, Christopher S. Ogilvy, Michel J. Berg	1998	287
6	Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13 Annals of Human Genetics ·Sue Povey, Mari‐Wyn Burley, Frances Benham, David Hunt, S.J. Jeremiah, Donald R Franklin, Godfrey T. Gillett, Stavros Malas	1994	221
7	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling The American Journal of Human Genetics ·Lot Snijders Blok, Erik C. Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel	2015	218
8	IQ at 6 years after in utero exposure to antiepileptic drugs Neurology ·Gus A. Baker, Rebecca Bromley, Maria Briggs, Christopher P. Cheyne, Morris Cohen, Marta García‐Fiñana, Alison Gummery, Rachel Kneen	2014	212
9	Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders The American Journal of Human Genetics ·Víctor Faùndes, William Newman, Laura Bernardini, Natalie L.E. Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally J Davies, Michelle K. Demos	2017	207
10	Mutations in the pre-replication complex cause Meier-Gorlin syndrome Nature Genetics ·Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim F. Aftimos, Jumana Yousuf Al-Aama	2011	194
11	MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY Developmental Medicine & Child Neurology ·David W. Webb, Alan E Fryer, John P. Osborne	1996	190
12	Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Nature Genetics ·Jeroen K. J. Van Houdt, Beata Nowakowska, Sérgio Bernardo de Sousa, Barbera D. C. van Schaik, Eve Seuntjens, Nelson Avonce, Alejandro Sifrim, Omar A Abdul-Rahman	2012	190
13	Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD Journal of Medical Genetics ·Katrina A. Andrews, David Benjamin Ascher, Douglas E. V. Pires, Daniel R. Barnes, Lindsey Vialard, Ruth Therese Casey, Nicola Bradshaw, Julian Adlard	2018	189
14	Paternal origin of new mutations in Von Recklinghausen neurofibromatosis Nature ·D.M. Jadayel, Pamela R. Fain, Meena Upadhyaya, Margaret A. Ponder, Susan Huson, John C. Carey, Alan E Fryer, Christopher George Mathew	1990	182
15	Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Human Mutation ·Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans	2013	177
16	Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain Nature Genetics ·Richard J. Gibbons, Satvinder Bachoo, David J. Picketts, Salim F. Aftimos, Bernhard Asenbauer, JoAnn Bergoffen, Susan A. Berry, Niklas Dahl	1997	173
17	Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 The American Journal of Human Genetics ·Margaret J. McMillin, Anita E. Beck, Chong Jessica, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth	2014	168
18	Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome The American Journal of Human Genetics ·Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne Kathrin Voss, Tim Thomas	2011	161
19	A novel recurrent mutation in ATP1A3 causes CAPOS syndrome Orphanet Journal of Rare Diseases ·Michelle K. Demos, Clara DM van Karnebeek, Colin J. Ross, Shelin Adam, Yaoqing Shen, Shing H. Zhan, Casper Shyr, Gabriella Ana Horvath	2014	155
20	Autism, language and communication in children with sex chromosome trisomies Archives of Disease in Childhood ·Dorothy Bishop, P. A. Jacobs, Katherine L. Lachlan, Diana Gay Wellesley, Angela J Barnicoat, Patricia A. Boyd, Alan E Fryer, Prisca Middlemiss	2010	151

About Alan E Fryer

Alan E Fryer is a scholar working on Genetics, Molecular Biology, Genetics, Pediatrics, Perinatology and Child Health and Physiology, having authored 156 papers that have together received 9.1k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (15 papers), Tuberous Sclerosis Complex Research (14 papers), Genomics and Rare Diseases (13 papers), Genetics and Neurodevelopmental Disorders (12 papers), Connective tissue disorders research (11 papers), Neurogenetic and Muscular Disorders Research (11 papers), Prenatal Screening and Diagnostics (9 papers) and Epigenetics and DNA Methylation (9 papers). The work is most often cited by research in Genetics (3.1k citations), Physiology (1.6k citations), Neurology (842 citations), Molecular Biology (4.0k citations) and Pediatrics, Perinatology and Child Health (825 citations). Alan E Fryer has collaborated with scholars based in United Kingdom, United States and Netherlands. Frequent co-authors include David W. Webb, John P. Osborne, J. Michael Connor, Ainsley H. Chalmers, Jill Clayton‐Smith, S. Povey, Ian S. Fraser, John R.W. Yates, Alan D. Yates and Meena Upadhyaya. Their work appears in journals such as Journal of Medical Genetics, The American Journal of Human Genetics, Nature Genetics, Archives of Disease in Childhood and Human Mutation.

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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Alan E Fryer

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Alan E Fryer

Alan E Fryer's Hit Papers

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