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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

• Authors : Marshall, Christian R.; Bick, David; Belmont, John W.

• Source: Genome Medicine. May 27, 2020, Vol. 12 Issue 1

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Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.

• Authors : Belmont, John W.

• Source: Journal of Cardiovascular Development & Disease (JCDD); Oct2022, Vol. 9 Issue 10, p315-N.PAG, 11p

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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

• Authors : Carvalho, Claudia M. B.; Coban-Akdemir, Zeynep; Hijazi, Hadia

• Source: Genome Medicine. April 23, 2019, Vol. 11 Issue 1

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Recommendations for whole genome sequencing in diagnostics for rare diseases

• Authors : Souche, Erika; Beltran, Sergi; Brosens, Erwin

• Source: European Journal of Human Genetics: EJHG; September 2022, Vol. 30 Issue: 9 p1017-1021, 5p

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

• Authors : Austin-Tse, Christina A.; Jobanputra, Vaidehi; Perry, Denise L.

• Source: NPJ Genomic Medicine; 4/8/2022, Vol. 7 Issue 1, p1-13, 13p

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

• Authors : Li, Alexander H.; Hanchard, Neil A.; Furthner, Dieter

• Source: Genome Medicine. October 31, 2017, Vol. 9 Issue 1

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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

• Authors : Bostwick, Bret L.; McLean, Scott; Posey, Jennifer E.

• Source: Genome Medicine. August 14, 2017, Vol. 9 Issue 1

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The diagnostic trajectory of infants and children with clinical features of genetic disease.

• Authors : Schroeder, Brock E.; Gonzaludo, Nina; Everson, Katie

• Source: NPJ Genomic Medicine; 11/22/2021, Vol. 6 Issue 1, p1-10, 10p

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Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene

• Authors : Santos-Cortez, Regie Lyn P.; Hutchinson, Diane S.; Ajami, Nadim J.

• Source: Infectious Diseases of Poverty. November 1, 2016, Vol. 5 Issue 1

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Genetic Epidemiology Highlights the Role of Aortic Strain and Distensibility in Cardiovascular Disease.

• Authors : Belmont, John W.¹ (AUTHOR)

Subjects: *GENETIC epidemiology; *CARDIOVASCULAR diseases; *NUTRITIONAL genomics

• Source: Journal of the American College of Cardiology (JACC). Apr2023, Vol. 81 Issue 14, p1336-1338. 3p.

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