by Kosuke Shigematsu  , Yukiko Mikami  , Mamiko Shinsaka  , Masanobu Kinoshita  and Yasushi Takai

Received: 29 June 2022;  Published: 28 March 2023;  doi: 10.21926/obm.genet.2301179

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children with CDM. This retrospective study examined 14 women with DM1 and their 14 children diagnosed with CDM. There were 11 CDM a [...]

by Elisavet Kouvidi  , Haralambia Tsarouha  , Christina Katsidi  , Sophia Zachaki  , Nikolaos Nitsos  , Sofia Samourgianidi  , Amelia Pantou  , Lazaros Leandros  , Emmanouel Kanavakis  and Ariadni Mavrou

Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178

by Bhanuka Maheshwara Sisira Kumara Pahala Ralalage  , Nirmani Kaluarachchi  , Malshani Randunu  , Munshifa Jainulabdeen  , Rohini Nanthakumar  , Sameera Vishwakula  and B. Prasanna Galhena

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177

Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for prenatal diagnosis of aneuploidies by FISH. Since most of these assays are laboratory-developed tests, it is essential to validate them prior to their use in [...]

by OBM Genetics Editorial Office

Received: 09 January 2023;  Published: 10 January 2023;  doi: 10.21926/obm.genet.2301176

An Interview with Dr. Yuri Shavrukov

by OBM Genetics Editorial Office

Received: 05 January 2023;  Published: 05 January 2023;  doi: 10.21926/obm.genet.2301175

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can dow [...]