Journal of Translational Genetics and Genomics

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

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Page 114-132
Cell-free DNA as a potential biomarker in stroke: a comprehensive review of observational studies

Paul Thuan Tieu, Michael H. Lee, Tushar Dhawan, Ha H. Nguyen, Sajjad Afraz, Jason Chung, Shawn Khan, Ibrahim Yusuf, Sophie Shu-Hsuan Liu

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Page 133-143
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

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Page 144-158
Advancement in the diagnosis of mitochondrial diseases

Siti Aishah Sulaiman, Zamzureena Mohd Rani, Fara Zela Mohd Radin, Nor Azian Abdul Murad

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Page 159-187
New diagnostic pathways for mitochondrial disease

Eloise Watson, Ryan Davis, Carolyn M. Sue

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Page 188-202
Historical analysis of suicide

Da-Yong Lu, Hong-Ying Wu, Shan Cao, Jin-Yu Che

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Page 203-209
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

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Page 210-220
Spectrum of movement disorders in mitochondrial diseases

Olimpia Musumeci, Rosaria Oteri, Antonio Toscano

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Page 221-237
Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Nazanin A. Mohammadi, Kristine Freude, Henriette Haukedal, Zeynep Tümer, Rikke S. Møller

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Page 238-250
Animal models of autism: a perspective from autophagy mechanisms

Halime Dana, Reyhan Tahtasakal, Elif Funda Sener

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Page 251-262
A review of the pharmacogenomics of buprenorphine for the treatment of opioid use disorder

Hemanuel Arroyo Seguí, Kyle Melin, Darlene Santiago Quiñones, Jorge Duconge

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Page 263-277
Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

Elisabetta Amadori, Noemi Brolatti, Marcello Scala, Francesca Marchese, Maria Stella Vari, Luca Antonio Ramenghi, Francesca Madia, Carlo Minetti, Pasquale Striano

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Page 278-284

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Table of Contents (12 articles)

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

Cell-free DNA as a potential biomarker in stroke: a comprehensive review of observational studies

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

Advancement in the diagnosis of mitochondrial diseases

New diagnostic pathways for mitochondrial disease

Historical analysis of suicide

The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2 activity with adverse effects

Spectrum of movement disorders in mitochondrial diseases

Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Animal models of autism: a perspective from autophagy mechanisms

A review of the pharmacogenomics of buprenorphine for the treatment of opioid use disorder

Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

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