Article
Clinical Neurology
Rachel A. Paul, Aaron Baldwin, Kelsey Johnson, Sara Manning Peskin, Thomas F. Tropea, Meron Azage, Tanya Bardakjian, Laynie Dratch
Summary: Preimplantation genetic testing for monogenic conditions (PGT-M) is a specialized assisted reproduction technique aimed at reducing the risk of inheritance of monogenic conditions. There are currently no guidelines, so it is important to consider genetic, practical, technical, and psychosocial and ethical factors.
Article
Genetics & Heredity
David A. Zeevi, Daniel Backenroth, Elinor Hakam-Spector, Paul Renbaum, Tzvia Mann, Fouad Zahdeh, Reeval Segel, Sharon Zeligson, Talia Eldar-Geva, Ido Ben-Ami, Adi Ben-Yehuda, Shai Carmi, Gheona Altarescu
Summary: This study extended the Haploseek method by incorporating DNA from embryo grandparents and conducting systematic validation on 151 embryo biopsies from 27 clinical PGT cases. Results demonstrated that Haploseek accurately predicted haplotypes and CNVs in all cases, making it suitable for standard clinical PGT applications for various genetic disorders.
GENETICS IN MEDICINE
(2021)
Article
Medicine, General & Internal
Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu, Ming Chen
Summary: Advances in genomic medicine have revolutionized the diagnostics and counseling for hereditary hearing impairment (HHI), including preimplantation genetic diagnosis (PGD). PGD has been successfully applied to different inheritance modes and phenotypes of HHI, providing parents-to-be with better reproductive choices.
Article
Obstetrics & Gynecology
A. van Montfoort, F. Carvalho, E. Coonen, G. Kokkali, C. Moutou, C. Rubio, V Goossens, M. De Rycke
Summary: The main trends in pre-implantation genetic testing (PGT) in 2016-2017 include the dominance of trophectoderm biopsy in PGT-A and the widespread implementation of comprehensive testing technologies in this area.
HUMAN REPRODUCTION OPEN
(2021)
Article
Biochemistry & Molecular Biology
Vivian Vernimmen, Aimee D. C. Paulussen, Jos C. F. M. Dreesen, Ron J. J. van Golde, Masoud Zamani Esteki, Edith Coonen, Marianne L. L. van Buul-van Zwet, Irene Homminga, Alwin A. H. A. Derijck, Lloyd Brandts, Constance T. R. M. Stumpel, Christine E. M. de Die-Smulders
Summary: Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the skin and nervous system, and can result in unpredictable manifestations in affected offspring. Preimplantation genetic testing (PGT) can be used to prevent the birth of affected offspring. A retrospective review was performed on couples referred for PGT with NF1, and the results showed a success rate and safety in PGT for NF1 patients.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Jack Hu, Fareeha Safir, Kai Chang, Sahil Dagli, Halleh B. Balch, John M. Abendroth, Jefferson Dixon, Parivash Moradifar, Varun Dolia, Malaya K. Sahoo, Benjamin A. Pinsky, Stefanie S. Jeffrey, Mark Lawrence, Jennifer A. Dionne
Summary: Genetic analysis methods are crucial for personalized medicine, disease diagnostics, and ecosystem monitoring. This study presents a label-free genetic screening platform using high-Q silicon nanoantennas, enabling quantitative and specific detection of gene fragments with femtomolar sensitivity within 5 minutes. The highly-multiplexed detection potential and amplification-free nature of this technology provide a foundation for rapid molecular assays.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Ni-Chin Tsai, Yun-Chiao Chang, Yi-Ru Su, Yi-Chi Lin, Pei-Ling Weng, Yin-Hua Cheng, Yi-Ling Li, Kuo-Chung Lan
Summary: Non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) combined with time-lapse morphokinetics can provide a better embryo-selection strategy in assisted reproduction technology.
Review
Obstetrics & Gynecology
Elias M. Dahdouh
Summary: Preimplantation genetic testing for aneuploidy is an invasive technique used in IVF cycles to select euploid embryos for transfer after biopsy and cytogenetic analysis. The technique does not improve ongoing pregnancy rates per cycle in the general IVF population, but is beneficial for a selected category of patients with normal ovarian reserve and should be performed by experienced IVF clinics. If no euploid embryo is available after testing, a low-level mosaic embryo can be considered for transfer with appropriate genetic counseling.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Forestry
Xiaoling Chen, Biqin Chen, Xulan Shang, Shengzuo Fang
Summary: This study investigated the biosynthesis, transport, and accumulation of triterpenoids in Cyclocarya paliurus during the growing season. Results showed seasonal variations in gene expression and triterpenoid accumulation in different organs, with significantly higher triterpenoid content in leaves compared to shoots. The study provides insights on improving triterpenoid accumulation in future C. paliurus plantations.
Article
Biochemical Research Methods
Jenny M. Vo-Phamhi, Kevin A. Yamauchi, Rafael Gomez-Sjoberg
Summary: This paper introduces an open-source toolkit and framework that incorporates crowdsourced and expert annotations as a source of ground truth for in situ transcriptomics image analysis. Through exploring and demonstrating the use of crowdsourced annotations for validating spot-calling algorithms and tuning parameters, it confirms that consensus crowdsourced annotations can substitute expert-generated ground truth. Advancements in in situ methods deepen our understanding of spatial organization in biological processes within tissues.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Microbiology
Jill Jasmine Dalimot, Ilka Mc Cormick Smith, Jasmin Gerkrath, Sylvia Hartmann, Oliver A. Cornely, Soo Chan Lee, Joseph Heitman, Volker Rickerts
Summary: This study focused on improving the accuracy of mucormycosis diagnosis from tissue samples using fluorescence in situ hybridization (FISH) targeting specific regions of fungal ribosomal RNA (rRNA) of Mucorales. While the probe combination showed success in targeting Mucorales and enhancing diagnosis, autofluorescence and variations in physiological states of fungi and antifungal therapy may impact the FISH signal obtained. Further studies are needed to determine the value of FISH in diagnosing mucormycosis from different clinical samples.
Review
Biochemistry & Molecular Biology
Yu-Sheng Wang, Jia Guo
Summary: The ability to quantify a large number of varied transcripts in single cells in their native spatial context is crucial for understanding health and disease, and recent advances in multiplexed FISH methods have enabled comprehensive RNA profiling in individual cells.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Dandan Wu, Namei Yang, Qian Xiang, Mingkun Zhu, Zhongyan Fang, Wen Zheng, Jiale Lu, Lina Sha, Xing Fan, Yiran Cheng, Yi Wang, Houyang Kang, Haiqin Zhang, Yonghong Zhou
Summary: This study investigated the chromosomes of the Pseudoroegneria libanotica and identified its characteristics and intraspecific polymorphism. The findings provide important information for the study of the evolution of the P. libanotica genome. The study also suggested the heterozygosity and adaptation as factors influencing the polymorphism in P. libanotica.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Chemistry, Multidisciplinary
Bowen Zhang, Taoran Tian, Dexuan Xiao, Shaojingya Gao, Xiaoxiao Cai, Yunfeng Lin
Summary: A DNA-enhanced HCR detection system (T-probe system) is introduced for the detection of cancer-related targets, demonstrating its versatility and efficiency by detecting miRNA-21 and nucleolin. The T-probe system shows high detection rate and rapid recognition of both membrane and intracellular cancer-related targets, and exhibits superior fluorescence for imaging tumor-related biomarkers in vitro and in vivo, indicating its great potential for clinical diagnosis and therapeutic applications.
ADVANCED FUNCTIONAL MATERIALS
(2022)
Article
Medicine, Research & Experimental
Xi Wang, Yixiao Feng, Shixian Zhou, Xiaorong Yang, Yan Liu, Qi Peng, Xuehua Kong, Lan Zhou, Zongyue Zeng
Summary: The study demonstrates that size selection magnetic beads can efficiently remove long RNA transcripts and concentrate small RNAs for reverse transcription, while touchdown qPCR improves microRNA detection efficiency, particularly for low-abundance microRNAs. The new protocol LTMT-qPCR, integrating these techniques, shows higher precision and detection efficiency compared to traditional methods, making it more suitable for microRNA screening and quantification.
LABORATORY INVESTIGATION
(2021)
Review
Pathology
Joanne Traeger-Synodinos, Cornelis L. Harteveld
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2017)
Article
Obstetrics & Gynecology
G. Kakourou, S. Kahraman, G. C. Ekmekci, H. A. Tac, G. Kourlaba, E. Kourkouni, A. Cervero Sanz, J. Martin, H. Malmgren, C. Gimenez, V. Gold, F. Carvalho, C. Billi, J. F. C. Chow, X. Vendrell, G. Kokkali, J. Liss, J. Steffann, J. Traeger-Synodinos
HUMAN REPRODUCTION
(2018)
Article
Hematology
C. Vrettou, G. Kakourou, T. Mamas, J. Traeger-Synodinos
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2018)
Article
Biochemistry & Molecular Biology
Alexandros Makis, Ioannis Georgiou, Jan Traeger-Synodinos, Maria Rosaria Storino, Mariarosaria Giuliano, Immacolata Andolfo, Eleftheria Hatzimichael, Nikolaos Chaliasos, Vasileios Giapros, Paola Izzo, Achille Iolascon, Michela Grosso
Summary: This study describes a novel deletion causing heterozygous epsilon gamma delta beta-thalassemia in a Greek family across three generations. The deletion led to severe but transient neonatal anemia and later in life non transfusion-dependent chronic hemolytic anemia. The challenges involving clinical management are also discussed, highlighting the unique characteristics of this type of thalassemia.
Article
Genetics & Heredity
Petros Kountouris, Coralea Stephanou, Carsten W. Lederer, Joanne Traeger-Synodinos, Celeste Bento, Cornelis L. Harteveld, Eirini Fylaktou, Tamara T. Koopmann, Hashim Halim-Fikri, Kyriaki Michailidou, Landry E. Nfonsam, John S. Waye, Bin A. Zilfalil, Marina Kleanthous
Summary: This article discusses the experience of the ClinGen Variant Curation Expert Panel in adapting ACMG/AMP criteria for classifying variants in three globin genes related to recessively inherited hemoglobinopathies, using five evidence categories as examples to demonstrate the process of specification and rationale underlying the classification.
Review
Hematology
Thalia Mamas, Georgia Kakourou, Christina Vrettou, Joanne Traeger-Synodinos
Summary: Hemoglobinopathies are common inherited disorders that are difficult to manage and treat. Preimplantation genetic testing for monogenic disorders (PGT-M) is a valuable reproductive option for couples carrying hemoglobinopathy genes. PGT-M has evolved over the years, allowing for the simultaneous diagnosis of hemoglobinopathies and screening for chromosomal abnormalities in embryos, with the aim of improving success rates and increasing the number of unaffected babies born.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Georgios K. Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, Elisabeth Chroni, Georgios Tsivgoulis, Vasilios Kimiskidis, Marianthi Arnaoutoglou, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima, Joanne Traeger-Synodinos
Summary: This study retrospectively analyzed the medical records of 561 Greek patients with myotonic dystrophies. The findings show similarities in clinical and genetic characteristics between these patients and those from other regions. Muscle weakness is the first symptom in both types of myotonic dystrophies, while multisystemic involvement and cataracts are common manifestations. The study highlights the importance of specialized neuromuscular centers that can provide genetic counseling and a multidisciplinary approach.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Chrisoula Kartanou, Maria Seferiadi, Stella Pomoni, Constantin Potagas, Chrystalena Sofocleous, Joanne Traeger-Synodinos, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima
Summary: This study investigates the frequency, genotypic and phenotypic profile of FXTAS in two cohorts of Greek patients with late-onset movement disorders and suggests that FXTAS is an important, albeit rare, cause of late-onset movement disorders. It highlights the importance of FMR1 genetic testing in the diagnosis of late-onset movement disorders.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Biology
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, Joanne Traeger-Synodinos, Irene Fylaktou, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Hashim Halim-Fikri, Bin Alwi Zilfalil, Andrea C. Kakouri, Marina Kleanthous, Petros Kountouris
Summary: This study evaluates the performance of 31 in silico predictors in globin gene clusters. The results show that CADD, Eigen-PC, and REVEL are the overall top performers, while SpliceAI is the best splicing predictor, and GERP++ and phyloP are the most accurate conservation tools. The study provides evidence about the optimal use of these computational tools under the ACMG/AMP framework.
Article
Genetics & Heredity
Faidon-Nikolaos Tilemis, Nikolaos M. M. Marinakis, Konstantina Kosma, Florentia Fostira, Joanne Traeger-Synodinos
Summary: Non-syndromic polydactyly is associated with pathogenic variants in IQCE gene, and this case report identifies a pathogenic IQCE variant and a large deletion involving IQCE gene using whole-exome sequencing. The IQCE gene codes for a protein that positively regulates the Hedgehog signaling pathway at the base of the primary cilia. This study highlights the importance of using ExomeDepth in routine WES analysis for diagnosing rare genetic diseases.
MOLECULAR SYNDROMOLOGY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Periklis Makrythanasis, Georgia Kakourou, Thalia Mamas, Christina Vrettou, Jan Traeger-Synodinos
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Danai Veltra, Maria Svingou, Kyriaki Kekou, Anastasios Mitrakos, Maria Tzetis, Konstantina Kosma, Periklis Makrythanasis, Joanne Traeger-Synodinos, Christalena Sofocleous
Summary: The integration of whole-exome sequencing (WES) and sensitive bioinformatic tools has enabled the detection of copy number variants (CNVs) in patients with rare diseases (RDs), improving the diagnostic yield of WES.
Article
Genetics & Heredity
Athanasios Goumenos, Eirini Tsoutsou, Joanne Traeger-Synodinos, Dimitrios Petychakis, Maria Gavra, Aggeliki Kolialexi, Helena Frysira
APPLICATION OF CLINICAL GENETICS
(2019)
Article
Obstetrics & Gynecology
Georgia Kakourou, Christina Vrettou, Maria Moutafi, Joanne Traeger-Synodinos
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2017)
Article
Genetics & Heredity
Carlo Vermeulen, Geert Geeven, Elzo de Wit, Marjon J. A. M. Verstegen, Rumo P. M. Jansen, Melissa van Kranenburg, Ewart de Bruijn, Sara L. Pulit, Evelien Kruisselbrink, Zahra Shahsavari, Davood Omrani, Fatemeh Zeinali, Hossein Najmabadi, Theodora Katsila, Christina Vrettou, George P. Patrinos, Joanne Traeger-Synodinos, Erik Splinter, Jeffrey M. Beekman, Sima Kheradmand Kia, Gerard J. te Meerman, Hans Kristian Ploos van Amstel, Wouter de Laat
AMERICAN JOURNAL OF HUMAN GENETICS
(2017)