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Journal of Translational Genetics and Genomics

C O NT E NT S

Genetics, Diagnosis and Treatment of Rare Diseases

1 Clinical characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic
implications
J. Andres Morales, Cynthia J. Curry, Christina G. Tise1, Lisa Kratz, Gregory M. Enns
J Transl Genet Genom 2022;6:257-65. http://dx.doi.org/10.20517/jtgg.2022.01

2 Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I
Syed Maisam Jafri, Elizabeth A. Burke, David R. Adams, Colleen Evans, Dorothy Bulas1, Stuart A.
Weinerman, Kristen Pan, Michael T. Collins, Thomas C. Markello, Gilbert Vezina, William A. Gahl,
Camilo Toro
J Transl Genet Genom 2022;6:281-9. http://dx.doi.org/10.20517/jtgg.2021.63

3 Potentials and challenges of launching the pilot phase of Hong Kong Genome Project
Annie T. W. Chu, Jasmine L. F. Fung, Amy H. Y. Tong, Sin Man Chow, Kelvin Y. K. Chan, Kit San Yeung, Hei
Man Lo, Hong Kong Genome Project, Brian H. Y. Chung
J Transl Genet Genom 2022;6:290-303. http://dx.doi.org/10.20517/jtgg.2022.02

4 Diagnostic strategies in patients with undiagnosed and rare diseases
Dídac Casas-Alba, Janet Hoenicka, Alba Vilanova-Adell, Lourdes Vega-Hanna, Jordi Pijuan, Francesc Palau
J Transl Genet Genom 2022;6:322-32. http://dx.doi.org/10.20517/jtgg.2022.03

5 Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
Berta Estévez-Arias, Laura Carrera-García, Andrés Nascimento, Lara Cantarero, Janet Hoenicka, Francesc Palau
J Transl Genet Genom 2022;6:333-52. http://dx.doi.org/10.20517/jtgg.2022.04

6 NUT midline carcinoma presenting initially as thyroid cancer: a case report and review of treatment
Melissa Neumann, Adam Hines, Qing Chang, Nagashree Seetharamu, Carlos A. Lopez
J Transl Genet Genom 2022;6:353-60. http://dx.doi.org/10.20517/jtgg.2022.06