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BMC Medical Genomics

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1. A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

   Authors:Makiko Tsutsumi, Hiroyoshi Hattori, Nobuhiro Akita, Naoko Maeda, Toshinobu Kubota, Keizo Horibe, Naoko Fujita, Miki Kawai, Yasuko Shinkai, Maki Kato, Takema Kato, Rie Kawamura, Fumihiko Suzuki and Hiroki Kurahashi

   Content type:Case report

   5 December 2019

2. Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

   Authors:Julia El Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle and Irene van Langen

   Content type:Research article

   29 November 2019

3. High-throughput RNA sequencing from paired lesional- and non-lesional skin reveals major alterations in the psoriasis circRNAome

   Authors:Liviu-Ionut Moldovan, Thomas Birkballe Hansen, Morten Trillingsgaard Venø, Trine Line Hauge Okholm, Thomas Levin Andersen, Henrik Hager, Lars Iversen, Jørgen Kjems, Claus Johansen and Lasse Sommer Kristensen

   Content type:Research article

   27 November 2019

4. Return of genetic and genomic research findings: experience of a pediatric biorepository

   Authors:Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade…

   Content type:Research article

   27 November 2019

5. MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration

   Authors:Michael D. Linderman, Leo McElroy and Laura Chang

   Content type:Software

   27 November 2019