Alice Goldenberg

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs

Major depressive disorder

Identification of 15 genetic loci associated with risk of major depression in individuals of European descent

Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes

Malformations of cortical development: clinical features and genetic causes

Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

MEF2 negatively regulates learning-induced structural plasticity and memory formation

The single-cell transcriptional landscape of mammalian organogenesis

Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses

Enhancer redundancy provides phenotypic robustness in mammalian development

Hedgehog signalling in endocrine development and disease

The hallmarks of cancer

Postnatal Loss of Mef2c Results in Dissociation of Effects on Synapse Number and Learning and Memory

Mutations in the noncoding genome

Refining the phenotype associated with MEF2C haploinsufficiency

The Transcription Factor Mef2 Links the Drosophila Core Clock to Fas2, Neuronal Morphology, and Circadian Behavior

lincRNAs act in the circuitry controlling pluripotency and differentiation

3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

The evolution of gene expression levels in mammalian organs

Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders

Wound healing - A literature review

Circonstances cliniques du diagnostic du syndrome de Smith-Lemli-Opitz et tentatives de corrélation phénotype-génotype : à propos de 45 cas

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

Adrenal Insufficiency and Abnormal Genitalia in a 46XX Female with Smith-Lemli-Opitz Syndrome

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases

Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence