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R. Stevenson · SciRah

Researcher profile · Semantic Scholar

R. Stevenson

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R. Stevenson — researcher profile on SciRah

h-index: 66
Works: 331
Citations: 14K

Most-cited papers

Fragile X and X-linked intellectual disability: four decades of discovery.
H. Lubs, R. Stevenson, C. Schwartz
2012American Journal of Human Genetics243 citations Open access
Semantic Scholar
Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
D. Grozeva, K. Carss, O. Spasic-Boskovic, M. Tejada +19 more
2015Human Mutation189 citations Open access
Semantic Scholar
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, Groupe di France +65 more
2021American Journal of Human Genetics172 citations Open access
Semantic Scholar
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
B. Sadikovic, M. Levy, J. Kerkhof, E. Aref-Eshghi +22 more
2021Genetics in Medicine169 citations Open access
Semantic Scholar
Decreased tryptophan metabolism in patients with autism spectrum disorders
L. Boccuto, Chin-Fu Chen, A. Pittman, C. Skinner +5 more
2013Molecular Autism159 citations Open access
Semantic Scholar
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
E. Aref-Eshghi, J. Kerkhof, V. Pedro, M. Barat-Houari +64 more
2020American Journal of Human Genetics155 citations Open access
Semantic Scholar
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
M. Levy, H. McConkey, J. Kerkhof, M. Barat-Houari +83 more
2021HGG advances152 citations Open access
Semantic Scholar
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Kyoko Takano, Dan Liu, P. Tarpey, E. Gallant +8 more
2012Human Molecular Genetics102 citations Open access
Semantic Scholar
XLID Update 2017
G. Neri, C. Schwartz, H. Lubs, R. Stevenson
2018American Journal of Medical Genetics. Part A101 citations Open access
Semantic Scholar
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
E. Bend, E. Aref-Eshghi, D. Everman, R. Rogers +20 more
2019Clinical Epigenetics95 citations Open access
Semantic Scholar
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
D. Beck, Ana Petracovici, Chong-Sheng He, H. Moore +28 more
2020American Journal of Human Genetics88 citations Open access
Semantic Scholar
Noonan Syndrome in Diverse Populations
P. Kruszka, A. R. Porras, Y. Addissie, A. Moresco +58 more
2017American Journal of Medical Genetics. Part A80 citations Open access
Semantic Scholar
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
J. Kerkhof, Cassandra Rastin, M. Levy, R. Relator +31 more
2024Genetics in Medicine73 citations Open access
Semantic Scholar
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Lucas M. Bronicki, C. Redin, S. Drunat, A. Piton +17 more
2015European Journal of Human Genetics73 citations Open access
Semantic Scholar
Williams-Beuren Syndrome in Diverse Populations
P. Kruszka, A. R. Porras, D. D. de Souza, A. Moresco +65 more
2018American Journal of Medical Genetics. Part A66 citations Open access
Semantic Scholar
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth +32 more
2020Nature Communications64 citations Open access
Semantic Scholar
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
M. Levy, R. Relator, H. McConkey, Erinija Pranckevičienė +88 more
2022Human Mutation60 citations Open access
Semantic Scholar
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
M. Friez, S. Brooks, R. Stevenson, M. Field +20 more
2016BMJ Open59 citations Open access
Semantic Scholar
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
M. May, Kyu-Seok Hwang, J. Miles, Charlie Williams +21 more
2015Human Molecular Genetics59 citations Open access
Semantic Scholar
Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes
T. Niranjan, C. Skinner, M. May, Tychele N. Turner +4 more
2015PLoS ONE59 citations Open access
Semantic Scholar
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Lauren Cascio, Chin-Fu Chen, R. Pauly, Sujata Srikanth +5 more
2019Molecular Genetics & Genomic Medicine56 citations Open access
Semantic Scholar
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Patrícia B. S. Celestino-Soper, C. Skinner, R. Schroer, Patricia A. Eng +15 more
2012Molecular Cytogenetics51 citations Open access
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
A. Dingemans, Kim M. G. Truijen, Sam van de Ven, R. Bernier +31 more
2022Translational Psychiatry37 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
M. Levy, D. Beck, K. Metcalfe, S. Douzgou +30 more
2021npj Genomic Medicine27 citations Open access
Semantic Scholar
Rubinstein–Taybi syndrome in diverse populations
C. Tekendo-Ngongang, B. Owosela, Nicole J. Fleischer, Y. Addissie +39 more
2020American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism
Philip Long, M. May, Victoria M. James, S. Grannò +6 more
2016Frontiers in Molecular Neuroscience26 citations Open access
Semantic Scholar
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder
Tiana M. Scott, Hui Guo, E. Eichler, J. Rosenfeld +21 more
2020Human Mutation25 citations Open access
Semantic Scholar
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
P. Kruszka, A. Uwineza, L. Mutesa, Ariel F. Martinez +10 more
2015Molecular Genetics & Genomic Medicine24 citations Open access
Semantic Scholar
X‐Linked intellectual disability update 2022
C. Schwartz, Raymond J. Louie, A. Toutain, C. Skinner +2 more
2022American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures
R. Stevenson
2021American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Lise-Marie Donnio, B. Bidon, S. Hashimoto, M. May +13 more
2017Human Molecular Genetics23 citations
Semantic Scholar
Human genome meeting 2016
A. K. Srivastava, Y. Wang, R. Huang, C. Skinner +496 more
2016Human Genomics23 citations Open access
Semantic Scholar
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
X. Latypova, M. Vincent, Alice Mollé, O. Adebambo +42 more
2021American Journal of Human Genetics22 citations Open access
Semantic Scholar
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network
Bailey A. Martin-Giacalone, A. Lin, S. Rasmussen, R. Kirby +16 more
2023American Journal of Medical Genetics. Part A21 citations Open access
Semantic Scholar
Neural Tube Defects and Associated Anomalies Before and After Folic Acid Fortification.
Jane H. Dean, R. Pauly, R. Stevenson
2020Jornal de Pediatria19 citations
Semantic Scholar
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
Raymond J. Louie, M. Friez, C. Skinner, M. Baraitser +3 more
2019American Journal of Medical Genetics. Part A18 citations
Semantic Scholar
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
C. Abad, Melissa M. Cook, Lei Cao, Julie R. Jones +9 more
2018Biology18 citations Open access
Semantic Scholar
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain
J. Leroy, D. Sillence, T. Wood, J. Barnes +5 more
2013European Journal of Human Genetics18 citations Open access
Semantic Scholar
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
S. Haghshenas, Karim Karimi, R. Stevenson, M. Levy +26 more
2024American Journal of Human Genetics16 citations Open access
Semantic Scholar
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, F. Taylan, P. O. Simsek-Kiper +28 more
2023Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Jiyong Wang, A. Foroutan, Ellen B Richardson, S. Skinner +19 more
2022European Journal of Human Genetics16 citations Open access
Semantic Scholar
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Loi Vong, Sangmoon Lee, Kit-Sing Au, T. Crowley +57 more
2024Science15 citations Open access
Semantic Scholar
Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood
Lucas M. Bronicki, R. Stevenson, J. Spranger
2015American Journal of Medical Genetics. Part C, Seminars in Medical Genetics15 citations
Semantic Scholar
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
E. Bosch, B. Popp, Esther Güse, C. Skinner +68 more
2023medRxiv14 citations Open access
Semantic Scholar
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
S. Haghshenas, M. Levy, J. Kerkhof, E. Aref-Eshghi +7 more
2021International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing
R. Stevenson, J. Liu, A. Iqbal, B. Dupont +12 more
2022medRxiv13 citations Open access
Semantic Scholar
X‐linked intellectual disability: Phenotypic expression in carrier females
Catherine A. Ziats, C. Schwartz, J. Gécz, M. Shaw +3 more
2019Clinical Genetics13 citations
Semantic Scholar
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
S. Srivastava, T. Niranjan, M. May, P. Tarpey +12 more
2019Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar

Frequent co-authors

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C. Schwartz×20
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C. Schwartz — researcher profile on SciRah
C. Skinner×16
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C. Skinner — researcher profile on SciRah
J. Kerkhof×12
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J. Kerkhof — researcher profile on SciRah
B. Sadikovic×12
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B. Sadikovic — researcher profile on SciRah

×11

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M. Friez — researcher profile on SciRah

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M. Levy — researcher profile on SciRah

Raymond J. Louie×10

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Raymond J. Louie — researcher profile on SciRah

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M. Tedder — researcher profile on SciRah

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S. Skinner — researcher profile on SciRah

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J. Gécz — researcher profile on SciRah

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M. Alders — researcher profile on SciRah

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E. Prijoles — researcher profile on SciRah