Roger E Stevenson
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Explore the profile of Roger E Stevenson including associated specialties, affiliations and a list of published articles.
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153
Citations
4607
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Recent Articles
1.
Chapin J, Sadikovic B, Kerkhof J, Schwartz C, Stevenson R, Skinner C, et al.
Eur J Med Genet
. 2025 Feb;
74:104997.
PMID: 39900177
Over two decades ago, a primigravid female presented with concern for recurrence of an adverse phenotype affecting her three brothers. The three brothers presented with intellectual disability, developmental delay, behavior...
2.
Haghshenas S, Karimi K, Stevenson R, Levy M, Relator R, Kerkhof J, et al.
Am J Hum Genet
. 2024 Aug;
111(8):1643-1655.
PMID: 39089258
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders...
3.
Levy B, Liu J, Iqbal M, Dupont B, Sahajpal N, Ho M, et al.
J Mol Diagn
. 2024 Jul;
26(10):906-916.
PMID: 39032820
Prenatal diagnostic testing of amniotic fluid, chorionic villi, or more rarely, fetal cord blood is recommended following a positive or unreportable noninvasive cell-free fetal DNA test, abnormal maternal biochemical serum...
4.
Vong K, Lee S, Au K, Crowley T, Capra V, Martino J, et al.
Science
. 2024 May;
384(6695):584-590.
PMID: 38696583
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida...
5.
Schwartz C, Aylsworth A, Allanson J, Battaglia A, Carey J, Curry C, et al.
Am J Med Genet A
. 2024 Feb;
194(6):e63514.
PMID: 38329159
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role...
6.
Kerkhof J, Rastin C, Levy M, Relator R, McConkey H, Demain L, et al.
Genet Med
. 2024 Jan;
26(5):101075.
PMID: 38251460
Purpose: This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of patients tested through the EpiSign Clinical...
7.
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Wang J, Foroutan A, Richardson E, Skinner S, Reilly J, Kerkhof J, et al.
Eur J Hum Genet
. 2023 Dec;
PMID: 38040915
No abstract available.
8.
Sahajpal N, Ziats C, Chaubey A, DuPont B, Abidi F, Schwartz C, et al.
Clin Genet
. 2023 Oct;
105(2):173-184.
PMID: 37899624
Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole...
9.
Bosch E, Popp B, Guse E, Skinner C, Van der Sluijs P, Maystadt I, et al.
Genet Med
. 2023 Aug;
25(11):100950.
PMID: 37551667
Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data...
10.
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet
. 2023 May;
110(6):963-978.
PMID: 37196654
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the...