Researcher Profile

Roger E. Stevenson

Publications

1,379

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Genetics in Medicine May 01, 2024

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Jennifer Kerkhof · Cassandra Rastin · Michael A. Levy · Raissa Relator +31 more

10.1016/j.gim.2024.101075 59 citations

Open Access Journal Article The American Journal of Human Genetics Mar 01, 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref-Eshghi · Jennifer Kerkhof · Victor P. Pedro · Mouna Barat-Houari +64 more

10.1016/j.ajhg.2020.01.019 287 citations

Journal Article American Journal of Medical Genetics Part A Apr 25, 2018

X‐linked intellectual disability update 2017

Giovanni Neri · Charles E. Schwartz · Herbert A. Lubs · Roger E. Stevenson

10.1002/ajmg.a.38710 100 citations

Journal Article American Journal of Medical Genetics Part A Sep 10, 2012

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome

Richard J. Schroer · Arthur L. Beaudet · Marwan Shinawi · Trilochan Sahoo +4 more

10.1002/ajmg.a.35566 12 citations

Journal Article American Journal of Medical Genetics Part A Apr 11, 2011

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Karl J. Franek · Julia Butler · John Johnson · Richard Simensen +9 more

10.1002/ajmg.a.33833 36 citations

Journal Article New England Journal of Medicine Oct 16, 2008

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

Heather C. Mefford · Andrew J. Sharp · Carl Baker · Andy Itsara +80 more

10.1056/nejmoa0805384 618 citations

Open Access Journal Article The American Journal of Human Genetics Feb 01, 2007

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 +49 more

10.1086/511134 197 citations

Open Access Journal Article The American Journal of Human Genetics Apr 01, 2004

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

Claus Lenski · Fatima Abidi · Alfons Meindl · Alice Gibson +6 more

10.1086/383205 70 citations

Publication Timeline

2024

2020

2018

2012

2011

2008

2007

2004

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