Page 5 - Read Online
P. 5
Journal of Translational Genetics and Genomics
C O NT E NT S
Genetics of Neurodevelopmental Disorders
1 DeepGestalt analysis of the SETD5-associated intellectual disability syndrome
Giulia Pascolini
J Transl Genet Genom 2020;4:17-21. http://dx.doi.org/10.20517/jtgg.2020.05
2 Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability
Martin Franz, Lisa Hagenau, Lars R. Jensen, Andreas W. Kuss
J Transl Genet Genom 2020;4:50-70. http://dx.doi.org/10.20517/jtgg.2020.13
3 Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study
Rajni Khajuria, Neerja Gupta, Kees E. P. van Roozendaal, Savita Sapra, Manju Ghosh, Sheffali Gulati, Eric E. J.
Smeets, Leopold M. G. Curfs, Madhulika Kabra
J Transl Genet Genom 2020;4:91-103. http://dx.doi.org/10.20517/jtgg.2020.06
4 Intellectual disability, the long way from genes to biological mechanisms
Marcelo Marti, Maria Ines Perez Millan, Juan I. Young, Katherina Walz
J Transl Genet Genom 2020;4:104-13. http://dx.doi.org/10.20517/jtgg.2020.10
5 Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-
25 deletion syndrome
Marco Fichera, Lucia Saccuzzo, Sara Bertuzzo, Susan Marelli, Anna Cavallini, Romina Romaniello, Mirjana
Kocova, Andrea Citterio, Isabella Fanizza, Antonio Trabacca, Angelica Pagliazzi, Silvia Guarducci, Sabrina Giglio,
Orsetta Zuffardi, Maria Clara Bonaglia
J Transl Genet Genom 2020;4:114-32. http://dx.doi.org/10.20517/jtgg.2020.16
6 EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients
with Kleefstra syndrome
Sarah J. Goodman, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Eric Chater-Diehl, Celine Aziz, Andrei L.
Turinsky, Barbara Kellam, Melanie Keller, Jung Min Ko, Oana Caluseriu, Daria Grafodatskaya, Elizabeth
McCready, Renee Perrier, Kit San Yeung, Luk Ho-Ming, Jerry Machado, Michael Brudno, D. James Stavropoulos,
Stephen W. Scherer, A. Micheil Innes, Sau Wei Cheung, Sanaa Choufani, Rosanna Weksberg
J Transl Genet Genom 2020;4:144-58. http://dx.doi.org/10.20517/jtgg.2020.23
7 The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2
activity with adverse effects
Marc Cendrós, María Jesús Arranz, Mercè Torra, Rafael Penadés, Alex Gonzalez-Rodriguez, Mercè Brunet,
Josefina Perez-Blanco, Laura Ibáñez, Alex Serra, Rosa Catalán
J Transl Genet Genom 2020;4:210-20. http://dx.doi.org/10.20517/jtgg.2020.21
