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Publications by Philip Stanier

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

English

Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight

American Journal of Human Genetics

English

Analysis of Transgenic Zebrafish Expressing the Lenz-Majewski Syndrome Gene PTDSS1 in Skeletal Cell Lineages

Molecular Biology

English

Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood

Multidisciplinary

English

Trans Effects of Chromosome Aneuploidies on DNA Methylation Patterns in Human Down Syndrome and Mouse Models

English

Inherited Duplications of PPP2R3B Promote Naevi and Melanoma via a Novel C21orf91-Driven Proliferative Phenotype

English

Maternal Repression of the Human GRB10 Gene in the Developing Central Nervous System; Evaluation of the Role for GRB10 in Silver-Russell Syndrome

European Journal of Human Genetics

English