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Cold Spring Harbor Molecular Case Studies|March 2, 2022
A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndromeFeng Xu, Erfan Aref-Eshghi, Jinhua Wu, et al.
European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.
European Journal of Haematology|June 10, 2019
Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignanciesMichael A Levy, Stephanie Santos, Jennifer Kerkhof, et al.
Clinical Epigenetics|April 29, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeEric G Bend, Erfan Aref-Eshghi, David B Everman, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Nature Communications|November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromesErfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndromeGerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
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