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Editorial

The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations

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Angelo Minucci, Maria De Bonis, Alessandra Costella, Giovanni Scambia, Giuseppa Scandurra & Ettore Capoluongo. (2016) Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype. Expert Review of Molecular Diagnostics 16:7, pages 715-717.
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Ruben Jauregui, Ahra Cho, Jin Kyun Oh, Akemi J. Tanaka, Janet R. Sparrow & Stephen H. Tsang. (2020) Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65 . Molecular Case Studies 6:1, pages a004952.
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Todd Lencz, Jin Yu, Cameron Palmer, Shai Carmi, Danny Ben-Avraham, Nir Barzilai, Susan Bressman, Ariel Darvasi, Judy H. Cho, Lorraine N. Clark, Zeynep H. Gümüş, Vijai Joseph, Robert Klein, Steven Lipkin, Kenneth Offit, Harry Ostrer, Laurie J. Ozelius, Inga Peter, Gil Atzmon & Itsik Pe’er. (2018) High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation. Human Genetics 137:4, pages 343-355.
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Peter L. Nagy & Howard J. Worman. 2018. The LINC Complex. The LINC Complex 321 336 .
Glenn S. Gerhard, Darrin V. Bann, James Broach & David Goldenberg. (2017) Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer. npj Genomic Medicine 2:1.
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Paul Gissen. 2017. Diseases of the Liver and Biliary System in Children. Diseases of the Liver and Biliary System in Children 34 38 .

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