Ana S A Cohen Selected Research

Weaver syndrome

1/2020	DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
12/2019	Rare SUZ12 variants commonly cause an overgrowth phenotype.
3/2016	Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
6/2015	A novel mutation in EED associated with overgrowth.

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Ana S A Cohen Research Topics

Disease

4	Weaver syndrome 01/2020 - 06/2015
2	Neurodevelopmental Disorders 01/2022 - 11/2018
1	Airway Obstruction (Choking) 01/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Megalencephaly 01/2022
1	Craniosynostoses (Craniosynostosis) 01/2021
1	Intellectual Disability (Idiocy) 01/2020
1	Congenital Heart Defects (Congenital Heart Defect) 01/2020
1	Neoplasms (Cancer) 03/2016

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 12/2019 - 06/2015
2	Transcription Factors (Transcription Factor)IBA 01/2021 - 01/2020
2	Histone MethyltransferasesIBA 01/2020 - 03/2016
1	Fetal Hemoglobin (Hemoglobin F)IBA 01/2022
1	NucleotidesIBA 01/2022
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2021
1	Basic Helix-Loop-Helix Transcription FactorsIBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 11/2018

Therapy/Procedure

1	Operative Surgical Procedures 01/2022