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Deep Genetic Connection between Cancer and Developmental Disorders. Titin Truncating Mutations: A Rare Cause of Dilated Cardiomyopathy in the Young. Progress in Pediatric Cardiology. Depression and Genetic Causal Attribution of Epilepsy in Multiplex Epilepsy Families. A Partial Duplication and Poly (A) Insertion la roche pos KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

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The Expanding Clinical Phenotype of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: 20 New Rcohe, and Possible Genotype-Phenotype Correlations. Genet Med, 18(11): 1143-1150, 2016. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Identification of Four Novel Susceptibility Loci for Oestrogen Receptor Negative Breast Cancer.

Apr 27; 7:11375, 2016. Clinical La roche pos Exploratory Research Consortium: Accelerating the Evidence-Based Practice of Genomic Medicine. De Novo Pathogenic Variants in CHAMP1 are Associated with Global Developmental Delay, Intellectual Disability, and Dysmorphic Facial Features.

BMPR2 Mutations and Survival in Pulmonary Arterial Hypertension: An Individual Participant Data Meta-Analysis.

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