Roger E. Stevenson

17.5k citations

255 papers · 13.7k · 1 hit paper · h-index 63

Impact in

Genetics top 0.2%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
Molecular Biology top 1%
- Congenital heart defects research
- Epigenetics and DNA Methylation
- RNA modifications and cancer

Papers in

Genetics 138
- Genetics and Neurodevelopmental Disorders 93
- Genomic variations and chromosomal abnormalities 37
- Genomics and Rare Diseases 17
Molecular Biology 122
- Congenital heart defects research 26
- RNA modifications and cancer 18
- Ubiquitin and proteasome pathways 17

Co-authors: Charles E. Schwartz (93 shared papers)Richard J. Simensen (27 shared papers)Herbert A. Lubs (29 shared papers)Cindy D. Skinner (28 shared papers)Richard J. Schroer (20 shared papers)Mary C. Phelan (11 shared papers)Jane H. Dean (15 shared papers)Michael J. Friez (27 shared papers)
Journals: The American Journal of Human Genetics (15 papers)Journal of Medical Genetics (11 papers)PEDIATRICS (10 papers)Clinical Genetics (8 papers)Human Molecular Genetics (6 papers)
Partner nations: United States Canada United Kingdom

In The Last Decade

Roger E. Stevenson

248 papers receiving 13.0k citations

Roger E. Stevenson's Hit Papers

align trajectories log scale

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes 2008 · 629 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.

2008 New England Journal of Medicine

Peers

Countries citing papers authored by Roger E. Stevenson

Since Specialization

Citations

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

Fields of papers citing papers by Roger E. Stevenson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Roger E. Stevenson, 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 Roger E. Stevenson Line = papers co-authored together Roger E. Stevenson 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 255 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	AGTR2 Mutations in X-Linked Mental Retardation Science ·Virginie S. Vervoort, Michael A. Beachem, Penny S. Edwards, Sydney Ladd, Karin E. Miller, Xavier de Mollerat, Katie Clarkson, Barbara R. DuPont	2002	661
2	Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes New England Journal of Medicine ·Heather C. Mefford, Andrew J. Sharp, Carl A. Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K. Maloney Hit paper breakdown →	2008	629
3	A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures Nature Genetics ·Andrew J. Sharp, Heather C. Mefford, Kelly Chenlei Li, Carl A. Baker, Cindy D. Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara	2008	475
4	X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene Nature Genetics ·Monique Jouet, Aaron Rosenthal, Giles Armstrong, John R. MacFarlane, Roger E. Stevenson, Joan Paterson, Aida B. Metzenberg, Victor V. Ionasescu	1994	347
5	Autism and maternally derived aberrations of chromosome 15q American Journal of Medical Genetics ·Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis, Eric C. Crawford, Steven A. Skinner, Michael L. Cuccaro, Richard J. Simensen, Janet Bishop	1998	319
6	Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene The American Journal of Human Genetics ·Charles E. Schwartz, Melanie M. May, Nancy J. Carpenter, R. Curtis Rogers, Judith A. Martin, Martin G. Bialer, Jewell C. Ward, Javier Sanabria	2005	315
7	Evaluation of mental retardation: Recommendations of a consensus conference American Journal of Medical Genetics ·Cynthia J. Curry, Roger E. Stevenson, David J. Aughton, Janice L. B. Byrne, John C. Carey, Suzanne B. Cassidy, Christopher M. Cunniff, John M. Graham	1997	312
8	Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor Cell ·N.German Pasteris, Amy B. Cadle, Lindsay J. Logie, Mary E. Porteous, Charles E. Schwartz, Roger E. Stevenson, Thomas W. Glover, R. Sid Wilroy	1994	247
9	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation Nature Genetics ·Patrick S. Tarpey, Frances Lucy Raymond, Lam Son Nguyen, Jayson D. Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge	2007	230
10	Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders The American Journal of Human Genetics ·Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils	2020	222
11	5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects American Journal of Medical Genetics ·C Y Ou, Roger E. Stevenson, Vicid K. Brown, Charles E. Schwartz, William Allen, Muin J. Khoury, Rima R. Rozen, Godfrey P. Oakley	1996	203
12	Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor The American Journal of Human Genetics ·Patrick S. Tarpey, Frances Lucy Raymond, Sarah O’Meara, Sarah Edkins, Jon W. Teague, Adam Butler, Ed Dicks, Claire Stevens	2007	197
13	Vascular Steal: The Pathogenetic Mechanism Producing Sirenomelia and Associated Defects of the Viscera and Soft Tissues PEDIATRICS ·Roger E. Stevenson, Kenneth Lyons Jones, Mary C. Phelan, Marilyn C. Jones, Mason Barr, Carol L. Clericuzio, Russell A. Harley, Kurt Benirschke	1986	196
14	Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders European Journal of Human Genetics ·Luigi Boccuto, Maria Lauri, Sara M. Sarasua, Cindy D. Skinner, Daniela Buccella, Alka Dwivedi, Daniela Orteschi, Julianne S. Collins	2012	192
15	SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome The American Journal of Human Genetics ·Gregor D. Gilfillan, Kaja Kristine Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Louise Eiklid, Mette Kroken, Morten Mattingsdal	2008	188
16	Obstetrical and gynecological complications in fragile X carriers: A multicenter study American Journal of Medical Genetics ·Charles E. Schwartz, Jane H. Dean, Patricia N. Howard‐Peebles, M. Bugge, Maja Mikkelsen, Niels Tommerup, Claire E. Hull, Randi Jenssen Hagerman	1994	180
17	Human Malformations and Related Anomalies Roger E. Stevenson	2005	175
18	Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United States PEDIATRICS ·Roger E. Stevenson, William Allen, Gurpur Shashidhar Pai, Robert G. Best, Laurie H. Seaver, Jane H. Dean, Shirley Thompson	2000	169
19	A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome Nature Genetics ·Hiba Risheg, John M. Graham, Robin Dawn Clark, R. Curtis Rogers, John M. Opitz, John B. Moeschler, Andreas P. Peiffer, Melanie M. May	2007	167
20	Mutations in the planar cell polarity genesCELSR1andSCRIBare associated with the severe neural tube defect craniorachischisis Human Mutation ·Alexis A. Robinson, Sarah Escuin, Kit Doudney, Michel J. J. Vekemans, Roger E. Stevenson, Nicholas D. E. Greene, Andrew J. Copp, Philip Stanier	2011	166

About Roger E. Stevenson

Roger E. Stevenson is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Cognitive Neuroscience and Rheumatology, having authored 255 papers that have together received 13.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (93 papers), Genomic variations and chromosomal abnormalities (37 papers), Congenital heart defects research (26 papers), Autism Spectrum Disorder Research (25 papers), RNA modifications and cancer (18 papers), Folate and B Vitamins Research (17 papers), Ubiquitin and proteasome pathways (17 papers) and Genomics and Rare Diseases (17 papers). The work is most often cited by research in Genetics (6.0k citations), Molecular Biology (5.9k citations), Cell Biology (1.3k citations), Cognitive Neuroscience (1.5k citations) and Pediatrics, Perinatology and Child Health (1.3k citations). Roger E. Stevenson has collaborated with scholars based in United States, Canada and United Kingdom. Frequent co-authors include Charles E. Schwartz, Richard J. Simensen, Herbert A. Lubs, Cindy D. Skinner, Richard J. Schroer, Mary C. Phelan, Jane H. Dean, Michael J. Friez, R. Rodney Howell and Katie Clarkson. Their work appears in journals such as The American Journal of Human Genetics, Journal of Medical Genetics, PEDIATRICS, Clinical Genetics and Human Molecular 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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Roger E. Stevenson

Roger E. Stevenson's Hit Papers

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Fields of papers citing papers by Roger E. Stevenson

All Works

About Roger E. Stevenson

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