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Publications by Alexandra Afenjar

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

Molecular Biology

Cancer Research

English

Variable Clinical Expression in Patients With Mosaicism forKCNQ2mutations

American Journal of Medical Genetics, Part A

English

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Multidimensional Proteomics for Cell Biology

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DNA Methylation Pathways and Their Crosstalk With Histone Methylation

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Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR

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Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

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Dynamin, a Membrane-Remodelling GTPase

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Regulating the Regulator: Post-Translational Modification of RAS

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Trithorax Group Proteins: Switching Genes on and Keeping Them Active

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