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Roger E. Stevenson

Roger E. Stevenson

D-Index & Metrics

Genetics

D-Index
77
Citations
20947
World Ranking
1771
National Ranking
808

Overview

Roger E. Stevenson is affiliated with Clemson University in the United States. Their research focuses extensively on the fields of Biochemistry, Genetics and Molecular Biology, with a significant emphasis on Medicine. Key subfields within their work include Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Surgery, and Cognitive Neuroscience.

The scholar's primary research topics cover multiple aspects of genetic disorders and epigenetics. These topics include:

  • Genetics and Neurodevelopmental Disorders
  • Epigenetics and DNA Methylation
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetic Syndromes and Imprinting
  • Prenatal Screening and Diagnostics
  • Autism Spectrum Disorder Research

Among their recent papers, notable examples are:

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (2020), published in The American Journal of Human Genetics
  • Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (2021), published in Genetics in Medicine
  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021), published in Human Genetics and Genomics Advances
  • Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency (2020), published in The American Journal of Human Genetics
  • Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders (2022), published in Human Mutation

The scientist has frequently published in several journals, including:

  • The American Journal of Human Genetics
  • American Journal of Medical Genetics Part A
  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Molecular Diagnostics

Collaborations form an important aspect of their work. Frequent co-authors include:

  • Charles E. Schwartz
  • Cindy Skinner
  • Michael J. Friez
  • Barbara R. DuPont
  • Steven A. Skinner

Best Publications

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • AGTR2 mutations in X-linked mental retardation.

    Virginie S. Vervoort;Michael A. Beachem;Penny S. Edwards;Sydney Ladd

  • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

    Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

    Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  • Evaluation of mental retardation: Recommendations of a consensus conference

    Cynthia J. Curry;Roger E. Stevenson;David Aughton;Janice Byrne

  • X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

    Monique Jouet;André Rosenthal;Giles Armstrong;John MacFarlane

  • Autism and maternally derived aberrations of chromosome 15q

    Richard J. Schroer;Mary C. Phelan;Ron C. Michaelis;Eric C. Crawford

  • Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

    Charles E. Schwartz;Melanie M. May;Nancy J. Carpenter;R. Curtis Rogers

  • Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho Rac guanine nucleotide exchange factor

    N. German Pasteris;Amy B. Cadle;Lindsay J. Logie;Mary E. M. Porteous

  • Vascular Steal: The Pathogenetic Mechanism Producing Sirenomelia and Associated Defects of the Viscera and Soft Tissues

    Roger E. Stevenson;Kenneth Lyons Jones;Mary C. Phelan;Marilyn C. Jones

  • Mutations in UPF3B , a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

    Patrick S. Tarpey;F. Lucy Raymond;Lam S. Nguyen;Jayson Rodriguez

  • A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

    Hong Jin;Melanie May;Lisbeth Tranebjærg;Elaine Kendall

  • 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

    Patrick S. Tarpey;F. Lucy Raymond;Sarah O’Meara;Sarah Edkins

  • Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

    Herbert A. Lubs;Roger E. Stevenson;Charles E. Schwartz

  • Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

    Luigi Boccuto;Maria Lauri;Sara M Sarasua;Cindy D Skinner

  • SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

    Gregor D. Gilfillan;Kaja K. Selmer;Ingrid Roxrud;Raffaella Smith

  • Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

    Kelly A. Przylepa;William Paznekas;Minghuang Zhang;Mahin Golabi

  • Adverse Birth Outcome Among Mothers With Low Serum Cholesterol

    Robin J. Edison;Kate Berg;Alan Remaley;Richard Kelley

  • Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

    C. E. Schwartz;J. Dean;P. N. Howard-Peebles;M. Bugge

  • A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

    Hiba Risheg;John M Graham;Robin D Clark;R Curtis Rogers

Frequent Co-Authors

Charles E. Schwartz
Charles E. Schwartz Greenwood Genetic Center
Herbert A. Lubs
Herbert A. Lubs University of Miami
Jozef Gecz
Jozef Gecz University of Adelaide
Patrick S. Tarpey
Patrick S. Tarpey Wellcome Sanger Institute
Michael R. Stratton
Michael R. Stratton Wellcome Sanger Institute
Gillian Turner
Gillian Turner University of Newcastle Australia
John M. Graham
John M. Graham Cedars-Sinai Medical Center
Giovanni Neri
Giovanni Neri Catholic University of the Sacred Heart
Sarah Edkins
Sarah Edkins Cardiff University

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