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Publications by Marie Shaw

A Non-Coding Variant in the 5ʹ UTR of DLG3 Attenuates Protein Translation to Cause Non-Syndromic Intellectual Disability

European Journal of Human Genetics

English

Heterozygous Loss of Function of IQSEC2/Iqsec2 Leads to Increased Activated Arf6 and Severe Neurocognitive Seizure Phenotype in Females

Life Science Alliance

Molecular Biology

English

Related publications

Rare Non-Syndromic Intellectual Disability

English

Subtle Functional Defects in the Arf-Specific Guanine Nucleotide Exchange Factor IQSEC2 Cause Non-Syndromic X-Linked Intellectual Disability

English

Insight to FBXO31 Novel Mutation p.Cys283Asn Causing Non‑Syndromic Autosomal Recessive Intellectual Disability Using Computational Methods

Clinical Proteomics and Bioinformatics

English

EstablishingSONin 21q22.11 as a Cause a New Syndromic Form of Intellectual Disability: Possible Contribution to Braddock-Carey Syndrome Phenotype

American Journal of Medical Genetics, Part A

English

Non-Progressive Cerebellar Ataxia With Intellectual Disability

English

Non-Syndromic Aortic Valve Myxoma in a Teen, Cause of Angina Symptoms

Journal of Cardiothoracic Surgery

Cardiovascular Medicine

Respiratory Medicine

English

Xp11.22 Deletions Encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a Cause of Syndromic X-Linked Intellectual Disability

Multidisciplinary

English

RPGR-containing Protein Complexes in Syndromic and Non-Syndromic Retinal Degeneration Due to Ciliary Dysfunction

Journal of Genetics

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English