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Publications by Trevor Cole
Tumour Risks and Genotype–phenotype–proteotype Analysis of Patients With Germline Mutations in the Succinate Dehydrogenase Subunit Genes SDHB, SDHC, and SDHD
The Lancet
Medicine
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
Refined Histopathological Predictors of BRCA1 and BRCA2mutation Status: A Large-Scale Analysis of Breast Cancer Characteristics From the BCAC, CIMBA, and ENIGMA Consortia
Breast Cancer Research
Cancer Research
Oncology
Non-Invasive Diagnosis of Retinoblastoma Using Cell-Free DNA From Aqueous Humour
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Non-Invasive Prenatal Diagnosis of Spinal Muscular Atrophy by Relative Haplotype Dosage
European Journal of Human Genetics
Genetics
PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
American Journal of Human Genetics
Genetics
Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome
American Journal of Human Genetics
Genetics
