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Publications by Eamonn R. Maher

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Surveillance Recommendations for Children With Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Clinical Cancer Research

Cancer Research

English

Molecular Autopsy by Trio Exome Sequencing (ES) and Postmortem Examination in Fetuses and Neonates With Prenatally Identified Structural Anomalies

Genetics in Medicine

English

Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)

English

Homozygous PLCB1 Deletion Associated With Malignant Migrating Partial Seizures in Infancy

English

Characterisation of Renal Cell Carcinoma‐associated Constitutional Chromosome Abnormalities by Genome Sequencing

Genes Chromosomes and Cancer

Cancer Research

English

Phenotype, Cancer Risk, and Surveillance in Beckwith-Wiedemann Syndrome Depending on Molecular Genetic Subgroups

American Journal of Medical Genetics, Part A

English