R. Stevenson

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Aliases
Roger Stevenson, R. E. Howell R. R Stevenson, R E Stevenson, R Stevenson, R. E. Stevenson, Roger E. Stevenson, R. Stevenson, Roger E Stevenson, R.e. Stevenson
Publication record
419 papers · 17,991 citations · H-index 71

PAPERS

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
20251 citationsauthor #21
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
202410 citationsauthor #3
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
202449 citationsauthor #23
Risk of meningomyelocele mediated by the common 22q11.2 deletion
202413 citationsauthor #49
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
202311 citationsauthor #65
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network
202321 citationsauthor #19
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
20230 citationsauthor #23
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
202321 citationsauthor #21
Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications
20230 citationsauthor #16
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
202312 citationsauthor #7
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
20235 citationsauthor #11
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability
20232 citationsauthor #7
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
20226 citationsauthor #14
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders
20223 citationsauthor #10
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
202213 citationsauthor #23
Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing
20227 citationsauthor #1
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
202226 citationsauthor #24
A SOX3 duplication and lumbosacral spina bifida in three generations
20225 citationsauthor #5
X‐Linked intellectual disability update 2022
202218 citationsauthor #6
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth Spectrum disorders.
20226 citationsauthor #14
Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
20228 citationsauthor #10
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
202246 citationsauthor #86
eP324: Biallelic variants in DLL1 as a novel cause of severe spondylocostal dysostosis
20220 citationsauthor #3
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
20210 citationsauthor #31
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
20210 citationsauthor #31
Angelman syndrome with a 15q11q13 deletion in a mother and daughter.
20210 citationsauthor #7
Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures
202119 citationsauthor #1
In search of the earliest images of symmelia in works of art
20211 citationsauthor #2
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
202122 citationsauthor #27
Using pyrosequencing to determine the allele origin of 15q duplication syndrome
20210 citationsauthor #12
A new test for autism spectrum disorder: Metabolic data from different cell types
20210 citationsauthor #10
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
20215 citationsauthor #11
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
2021141 citationsauthor #11
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
202121 citationsauthor #31
Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder
20211 citationsauthor #10
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
20210 citationsauthor #31
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
202112 citationsauthor #9
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
2021164 citationsauthor #64
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
2021125 citationsauthor #82
Rubinstein–Taybi syndrome in diverse populations
202024 citationsauthor #41
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
202019 citationsauthor #18
Autistic Disorder: A 20 Year Chronicle
202010 citationsauthor #9
Christianson syndrome
20206 citationsauthor #1
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
202056 citationsauthor #31
Autistic Disorder: A 20 Year Chronicle
20200 citationsauthor #9
Schimke XLID syndrome results from a deletion in BCAP31
20208 citationsauthor #6
Hydrocephaly associated with compound heterozygous alterations in TRAPPC12
20205 citationsauthor #4
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency
20203 citationsauthor #2
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
202083 citationsauthor #36
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
2020124 citationsauthor #64
Neural Tube Defects and Associated Anomalies Before and After Folic Acid Fortification.
202016 citationsauthor #3
AARSKOG SYNDROME
20200 citationsauthor #1
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii
201910 citationsauthor #13
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
201953 citationsauthor #7
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
201912 citationsauthor #14
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
201983 citationsauthor #26
UBE2A-related X-linked intellectual disability
20194 citationsauthor #1
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.
20195 citationsauthor #3
Creatine transporter defect masquerading as Lujan Syndrome
20190 citationsauthor #4
Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
20194 citationsauthor #36
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
201916 citationsauthor #7
X‐linked intellectual disability: Phenotypic expression in carrier females
201913 citationsauthor #6
Cornelia de Lange syndrome in diverse populations
201940 citationsauthor #28
Selection of Less-Prevalent Overgrowth Syndromes
20190 citationsauthor #1
Report of the Bureau of Commercial Fisheries Biological Laboratory, Galveston, Texas: Fiscal Year 1969
20180 citationsauthor #2
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
201817 citationsauthor #11
47. Serendipitous identification of meiotic crossover events in struma ovarii tumors by whole genome SNP microarray analysis
20181 citationsauthor #5
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome
20186 citationsauthor #1
X‐linked intellectual disability update 2017
201898 citationsauthor #4
Williams–Beuren syndrome in diverse populations
201863 citationsauthor #63
Ocular manifestations in the X-linked intellectual disability syndromes
201712 citationsauthor #4
ATL AS OF X-L INKED INTELLECTUAL
20170 citationsauthor #3
Noonan syndrome in diverse populations
201778 citationsauthor #56
Cover Image, Volume 173A, Number 9, September 2017.
20170 citationsauthor #56
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
201723 citationsauthor #11
CORRIGENDUM: Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics
20170 citationsauthor #13
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound
201730 citationsauthor #12
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism
201625 citationsauthor #7
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics
20163 citationsauthor #13
Menkes disease: A biochemical abnormality in cultured human
20160 citationsauthor #2
Human genome meeting 2016
201620 citationsauthor #9
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
201653 citationsauthor #3
Four Generation Family With a Complex Insertion of 16q in 4p
20160 citationsauthor #5
New observation of sialuria prompts detection of liver tumor in previously reported patient.
20164 citationsauthor #19
Miles-Carpenter Syndrome (Mcs) Results From a Mutation in Zc4h2, a Gene Involved in V2 Interneuron Specification Particularly the Generation of Gabaergic Inhibitory Interneurons
20150 citationsauthor #15
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
201557 citationsauthor #21
The Lower Respiratory Organs
20151 citationsauthor #2
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
201570 citationsauthor #19
Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
2015187 citationsauthor #15
Small and Large Intestines
20152 citationsauthor #1
Male Genital System
20150 citationsauthor #1
Brain and Spinal Cord
20150 citationsauthor #1
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
201523 citationsauthor #9
When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina
201514 citationsauthor #4
Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes
201555 citationsauthor #6
Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood
201515 citationsauthor #2
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
20144 citationsauthor #1
The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases
20143 citationsauthor #5
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome
201427 citationsauthor #5
Table 1. [Summary of Molecular Genetic Testing...].
20140 citationsauthor #1

TIMELINE

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1967 82 citations

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1993 72 citations

1994 735 citations

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2001 56 citations

2002 894 citations

2003 463 citations

2004 459 citations

2005 875 citations

2006 923 citations

2007 1,280 citations

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2012 1,031 citations

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2014 34 citations

2015 424 citations

2016 105 citations

2017 143 citations

2018 185 citations

2019 240 citations

2020 354 citations

2021 511 citations

2022 138 citations

2023 72 citations

2024 72 citations

2025 1 citations

Unknown 0 citations

R. Stevenson

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