Article
Environmental Sciences
Marcelino Benvindo-Souza, Daiany Folador Sotero, Cirley Gomes Araujo dos Santos, Rhayane Alves de Assis, Rinneu Elias Borges, Lia Raquel de Souza Santos, Daniela de Melo e Silva
Summary: Pollution from mining activities can cause genotoxic damage to bats, particularly in species like Carollia perspicillata and Glossophaga soricina. High levels of elements such as Mn, Cr, Pb, and Zn were found in water samples from the mining area. The study suggests that bats in mining areas are susceptible to increased DNA damage, similar to what has been observed in other species.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2023)
Article
Environmental Sciences
Marcelino Benvindo-Souza, Akemi Vieira Hosokawa, Cirley Gomes Araujo dos Santos, Rhayane Alves de Assis, Thays Millena Alves Pedroso, Rinneu Elias Borges, Susi Missel Pacheco, Lia Raquel de Souza Santos, Daniela de Melo e Silva
Summary: Habitat loss and fragmentation pose significant threats to biodiversity. The use of bioindicators can provide insight into the health of the environment. A study conducted in agricultural areas found higher genotoxic damage in bats compared to a control area.
ENVIRONMENTAL POLLUTION
(2022)
Review
Environmental Sciences
Juana Sanchez-Alarcon, Mirta Milic, Vilena Kasuba, Maria Guadalupe Tenorio-Arvide, Jose Mariano Rigoberto Montiel-Gonzalez, Stefano Bonassi, Rafael Valencia-Quintana
Summary: In agricultural activities, pest control is essential and chemical agents are the most effective method, but also represent a source of potential toxic compound exposure. Studies have shown increased DNA damage levels after exposure to pesticides, confirmed by cytogenetic biomarkers such as chromosomal aberrations, sister chromatid exchanges, micronuclei frequency, and other nuclear abnormalities.
Article
Cell Biology
Francesca Marcon, Roberta Meschini, Egidio Iorio, Simonetta Palleschi, Gabriele De Luca, Ester Siniscalchi, Luigi Conti, Mattea Chirico, Maria Elena Pisanu, Francesca De Battistis, Barbara Rossi, Anna Minoprio, Alessandro Giuliani, Peter Karran, Margherita Bignami
Summary: hMTH1 protects against mutation during oxidative stress by degrading oxidized guanine in DNA. Its overexpression ameliorates the effects of a high-fat diet challenge in young mice, including weight gain, liver metabolism changes, and DNA damage. However, these protective effects are less significant in adult mice, indicating a redundant role of hMTH1 in non-growing, differentiated tissues. The lifelong protection against micronucleus induction conferred by hMTH1 overexpression may contribute to the extended longevity observed in hMTH1-Tg mice.
Review
Biotechnology & Applied Microbiology
Peter Moller, Regitze Solling Wils, Emilio Di Ianni, Claudia Andrea Torero Gutierrez, Martin Roursgaard, Nicklas Raun Jacobsen
Summary: The review summarizes the genotoxic effects of JRC materials and MWCNT-7, with a significant increase in the current database compared to the IARC monograph. Cell culture studies show a genotoxic response by MWCNT-7, less consistent effect by NM-400 and NM-402, and least consistent effect by NM-401 and NM-403, indicating strongest evidence of genotoxicity for MWCNT-7. There are limited observations from animal models and humans to draw general conclusions about genotoxicity.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2021)
Article
Cell Biology
Patricia Molz, Danieli Rosane Dallemole, Walter Augusto Molz, Juliana Priebe Steffens, Sharbel Wildner Maluf, Dennis Baroni Cruz, Alexandre Rieger, Mirian Salvador, Daniel Pra, Silvia Isabel Rech Franke
Summary: High sugar intake is a major risk factor for metabolic disorders. However, this study showed that iron supplementation did not aggravate obesity, impaired glucose tolerance, and sugar overload-induced genotoxicity in rats. Iron supplementation, at the evaluated concentration, did not worsen weight gain, impaired glucose tolerance, and genotoxicity induced by high sugar intake in rats.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2023)
Article
Toxicology
Kevin Hogeveen, Sylvie Huet, Charlene Besnard, J. Sam Murray, D. Tim Harwood, Andy Selwood, Valerie Fessard
Summary: Portimine, a recently identified cyclic imine produced by the dinoflagellate Vulcanodinium rugosum, has been described as a potent apoptotic agent and may potentially induce DNA replication stress. Experimental results show that in HepaRG cells, Portimine induced phosphorylation of H2AX, but had no effects on other DNA damage endpoints.
TOXICOLOGY IN VITRO
(2021)
Review
Environmental Sciences
Giovana Wagner Branda Drummond, Wilton Mitsunari Takeshita, Glaucia Monteiro de Castro, Jean Nunes dos Santos, Patricia Ramos Cury, Ana Claudia Muniz Renno, Daniel Araki Ribeiro
Summary: The goal of this study was to review the scientific literature on fluoride exposure's genotoxic effects. The databases used were PubMed/Medline, SCOPUS and Web of Science. Quality of the included studies was assessed using EPHPP. Out of the twenty studies reviewed, only a few indicated genotoxicity from fluoride exposure. Majority of the studies showed negative results. Based on EPHPP, one study was classified as weak, ten as moderate, and nine as strong. Overall, it has been established that the genotoxicity of fluoride is limited.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL HEALTH RESEARCH
(2023)
Article
Developmental Biology
Karine Souza Da Correggio, Sheila Koettker Silveira, Otto Henrique May Feuerschuette, Flora Troina Maraslis, Kamylla Pinheiro, Marcos Jose Machado, Sharbel Weidner Maluf, Alexandre Sherlley Casimiro Onofre
Summary: The study aimed to evaluate DNA damage in cells from umbilical cord and maternal blood, showing significant correlation between DNA damage in newborns and their mothers. Factors such as nulliparity and length of second stage of labor were associated with DNA damage frequency. Additionally, potential risks of degenerative diseases in this population, such as cancer, should be further investigated.
Article
Multidisciplinary Sciences
Mirko Marino, Letizia Gigliotti, Peter Moller, Patrizia Riso, Marisa Porrini, Cristian Del Bo
Summary: The comet assay is used to assess DNA damage in tissues and biological samples. This study found that storage time had varying effects on DNA damage levels in PBMCs and WB samples, with significant increases observed in WB samples stored for over 6 months. WB samples showed higher levels of DNA damage compared to PBMCs.
SCIENTIFIC REPORTS
(2021)
Review
Environmental Sciences
Aryelle Canedo, Thiago Lopes Rocha
Summary: Zebrafish have become a popular model for assessing the genotoxicity of pollutants due to their orthologous genes and involvement in repair pathways. Comet assay is the main technique used in these studies, but standardization is needed for better interpretation and comparisons. Understanding repair mechanisms in zebrafish subjected to DNA damage is essential for further research on genotoxic effects caused by pollutants.
SCIENCE OF THE TOTAL ENVIRONMENT
(2021)
Article
Environmental Sciences
Felipe de Araujo Nascimento, Daniela de Melo e Silva, Thays Millena Alves Pedroso, Jheneffer Sonara Aguiar Ramos, Michelle Rocha Parise
Summary: Occupational exposure to pesticides in farmers results in significant DNA damage, showing a notable impact and variability in the studies. Smokers who are occupationally exposed to pesticides have slightly reduced DNA damage compared to non-smokers, indicating some genetic toxicity. The study demonstrates a higher risk of occupationally exposed rural workers developing related diseases due to the genotoxic effect of pesticides.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Environmental Sciences
Vehbi Atahan Togay, Gulcin Yavuz Turel, Dilek Asci celik, Meltem ozgocmen, Eda Evgen Tuluceoglu, Ismail Sen, Yusuf Ayvaz
Summary: This study found that cyprodinil and thiacloprid exposure can lead to increased DNA damage risk in zebrafish, as demonstrated by comet assay. These pesticides were identified as genotoxic agents that require further investigation.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Article
Toxicology
Ji-Eun Seo, Xiaoqing Guo, Dayton M. Petibone, Sharon D. Shelton, Ying Chen, Xilin Li, Volodymyr Tryndyak, Stephanie L. Smith-Roe, Kristine L. Witt, Nan Mei, Mugimane G. Manjanatha
Summary: The study confirmed the induction of micronuclei by black cohosh extract in TK6 and HepG2 cells, as well as DNA damage in TK6 cells. Exposure to 125 µg/ml BCE (24 h) led to G1/S arrest in TK6 cells, accompanied by apoptosis and increased expression of related proteins.
TOXICOLOGICAL SCIENCES
(2021)
Article
Environmental Sciences
Rafael Valencia-Quintana, Mirta Milic, Stefano Bonassi, Maria Antonieta Ochoa-Ocana, Victoria Campos-Pena, Maria Guadalupe Tenorio-Arvide, Guillermo Alejandro Perez-Flores, Juana Sanchez-Alarcon
Summary: This study evaluated the effect of pesticides on genetic damage to agricultural workers in Los Reyes, Michoacan, Mexico. The results showed that pesticide use poses a risk of genetic damage to agricultural workers, but measures can be taken to reduce this risk.
Article
Genetics & Heredity
David A. Dyment, Anne O'Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B. Au, Hatip Aydin, Alan H. Beggs, Kaya Bilguvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steve Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia Curry, Elke de Boer, Bert B. A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina M. England, Jill A. Fahrner, Bilgen B. Geckinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin Kernohan, Julie L. Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc Lopez-Giraldez, Tara C. Matise, Jennifer McEvoy-Venneri, Brenda McInnes, Aziz Mhanni, Sixto Garcia Minaur, Jukka Moilanen, An Nguyen, Malgorzata J. M. Nowaczyk, Jennifer E. Posey, Katrin Ounap, Davut Pehlivan, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth E. Blue, A. Micheil Innes
Summary: Dubowitz syndrome is a recognizable syndrome characterized by distinctive facial appearance and deficits in growth and development. Exome or genome sequencing has identified a variety of genetic mutations associated with this syndrome, with some families receiving a presumptive molecular diagnosis. However, the majority of diagnoses are for emerging clinical conditions with characteristics that overlap the DubS phenotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Ahmet Arman
Summary: LMNA gene variants cause a diverse range of laminopathies, mainly affecting the heart, skeleton, skin, bones, and nervous system. The affected tissues may vary depending on the site and type of variant, and complex phenotypes may also occur.
CLINICAL DYSMORPHOLOGY
(2021)
Article
Genetics & Heredity
Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda, Gulcin Zengin, Esra Arslan Ates, Ahmet Arman
INTERNATIONAL JOURNAL OF HUMAN GENETICS
(2020)
Article
Genetics & Heredity
Elif Ece Kalaoglu, Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Esra Arslan Ates, Ali Mentes, Ahmet Arman
Summary: We report a case of sponastrime dysplasia (SEMDSP), which was diagnosed by characteristic clinical and radiographic findings. The patient experienced respiratory distress and jaundice at birth and presented with various facial and body dysmorphic features during growth, but had normal intellectual development.
CLINICAL DYSMORPHOLOGY
(2021)
Article
Endocrinology & Metabolism
Sare Betul Kaygusuz, Esra Arslan Ates, Maria Lillina Vignola, Burcu Volkan, Bilgen Bilge Geckinli, Serap Turan, Abdullah Bereket, Carles Gaston-Massuet, Tulay Guran
Summary: Our work characterizes 2 patients with syndromic hypopituitarism due to FOXA2 gene defects, including a novel heterozygous nonsense mutation and a novel de novo deletion that encompasses FOXA2. The first patient exhibited impaired transcriptional activation of GLUT2 due to the mutation, while the second patient developed diabetes mellitus that responded well to sulfonylurea treatment. This expands the molecular and clinical spectrum of FOXA2-related disease.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Genetics & Heredity
Esra Arslan Ates, Ayberk Turkyilmaz, Kenan Delil, Ceren Alavanda, Mehmet Ali Soylemez, Bilgen Bilge Geckinli, Pinar Ata, Ahmet Arman
Summary: This study investigated two fetuses prenatally diagnosed with PKD in a consanguineous family, revealing a homozygous DNAJB11 variant related to ADPKD through WES analysis. It suggests that DNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD.
MOLECULAR SYNDROMOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Esra Esim Buyukbayrak, Sirin Funda Eren, Ahmet Arman
Summary: The study identified novel homozygous variants in TCTN3 and CEP290 genes in two fetuses with Meckel-Gruber syndrome, shedding light on the molecular etiology of MKS and genotype-phenotype correlations.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2021)
Article
Genetics & Heredity
Esra Arslan Ates, Ayberk Turkyilmaz, Ozlem Yildirim, Ceren Alavanda, Hamza Polat, Senol Demir, Alper Han Cebi, Bilgen Bilge Geckinli, Ahmet Ilter Guney, Pinar Ata, Ahmet Arman
Summary: In this study, CES data from 622 cases were evaluated, with 2.1% of cases found to have reportable variations including oncogenetic, cardiogenetic disorders, and malignant hyperthermia susceptibility-related genes. Additionally, 2.4% of cases showed heterozygous pathogenic and likely pathogenic variations in genes with autosomal recessive inheritance. Ten novel variations causing truncated protein or splicing defect were reported, along with 11 variations having conflicting interpretations in databases. Further evaluations are needed for 30 novel variations predicted as likely pathogenic via insilico analysis tools. This study is the first to investigate secondary findings in the Turkish population, providing valuable information for preventing severe morbidities and mortalities.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tulay Tos, Gozde Yesil, Hatip Aydin, Bilgen Geckinli, Nursel Elcioglu, Sukru Candan, Ozlem Sezer, Haktan Bagis Erdem, Davut Gul, Emine Demiral, Muhsin Elmas, Osman Yesilbas, Betul Kilic, Serdal Gungor, Ahmet C. Ceylan, Sevcan Bozdogan, Ozge Ozalp, Salih Cicek, Huseyin Aslan, Sinem Yalcintepe, Vehap Topcu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban Akdemir, Ender Karaca, Claudia M. B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehlivan
Summary: Neurodevelopmental disorders (NDD5) are clinically and genetically diverse, posing significant challenges to society and economy. Advances in family-based genomics and rare-variant analysis have led to the discovery of molecular etiology and candidate genes for NDD5. Although the majority of NDD5 cases remain molecularly undiagnosed, there have been progress and findings in understanding the genetic heterogeneity and perturbations underlying NDD5.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Haluk Akin, Sevilhan Artan, Tulin Cora, Feride Iffet Sahin, Ahmet Dursun, Ozlem Sezer, Hakan Gurkan, Murat Erdogan, C. Nur Semerci Gunduz, Atil Bisgin, Ozturk Ozdemir, Ayfer Ulgenalp, E. Ferda Percin, Malik Ejder Yildirim, Selahaddin Tekes, Haydar Bagis, Huseyin Yuce, Nilgun Duman, Gokay Bozkurt, Kanay Yararbas, Mahmut Selman Yildirim, Ahmet Arman, Ercan Mihci, Serpil Eraslan, Zuhal Mert Altintas, Huri Sema Aymelek, Hatice Ilgin Ruhi, Abdulgani Tatar, Mahmut Cerkez Ergoren, G. Ozan Cetin, Umut Altunoglu, Ahmet Okay Caglayan, Berrin Yuksel, Yusuf Ozkul, Cetin Saatci, Sercan Kenanoglu, Nilgun Karasu, Bilge Dundar, Firat Ozcelik, Mikail Demir, Betul Seyhan Siniksaran, Hande Kulak, Kubra Kiranatlioglu, Kubra Baysal, Ulviyya Kazimli, Hilal Akalin, Ayca Dundar, Mehmet Boz, Arslan Bayram, Asli Subasioglu, Fatma Kurt Colak, Neslihan Karaduman, Meltem Cerrah Gunes, Nefise Kandemir, Busra Aynekin, Rabia Emekli, Izem Olcay Sahin, Sevda Yesim Ozdemir, Muge Gulcihan Onal, Abdurrahman Soner Senel, Muammer Hakan Poyrazoglu, Ayse Nur Pac Kisaarslan, Sebnem Gursoy, Mevlut Baskol, Mustafa Calis, Huseyin Demir, Gozde Erturk Zararsiz, Mujgan Ozdemir Erdogan, Muhsin Elmas, Mustafa Solak, Memnune Sena Ulu, Adam Thahir, Zafer Aydin, Umut Atasever, Sebnem Ozemri Sag, Lamiya Aliyeva, Adem Alemdar, Berkcan Dogan, Cemre Ornek Erguzeloglu, Niyazi Kaya, Ferda Ozkinay, Ozgur Cogulu, Asude Durmaz, Huseyin Onay, Emin Karaca, Burak Durmaz, Ayca Aykut, Oguz Cilingir, Beyhan Durak Aras, Ebru Erzurumluoglu Gokalp, Serap Arslan, Arda Temena, Konul Haziyeva, Sinem Kocagil, Hasan Bas, Ezgi Susam, Ali Riza Keklikci, Elif Sarac, Nadir Kocak, Suleyman Nergiz, Yunus Kasim Terzi, Selin Akad Dincer, Esra Sidika Baskin, Gunes Cakmak Genc, Oguzhan Bahadir, Aslihan Sanri, Serbulent Yigit, Hilmi Tozkir, Sinem Yalcintepe, Nese Ozkayin, Aslihan Kiraz, Burhan Balta, Gizem Akinci Gonen, E. Emre Kurt, Gulay Gulec Ceylan, Ahmet Cevdet Ceylan, Sukran Erten, Sevcan Tug Bozdogan, Ibrahim Boga, Mustafa Yilmaz, Fatma Silan, Mehmet Kocabey, Altug Koc, Tufan Cankaya, Elcin Bora, Ozlem Giray Bozkaya, Derya Ercal, Mehmet Ali Ergun, Sezen Guntekin Ergun, Yesim Sidar Duman, Serife Busra Beyazit, Veysiye Hulya Uzel, Serda Em, Muhammer Ozgur Cevik, Recep Eroz, Mercan Demirtas, Cem Koray Firat, Zehra Manav Kabayegit, Mustafa Altan, Lamiya Mardan, Ceyhan Sayar, Sait Tumer, Burcu Turkgenc, Hilal Keskin Karakoyun, Betul Tunc, Seda Kuru, Aysegul Zamani, Bilgen Bilge Geckinli, Esra Arslan Ates, Ozden Altiok Clark, Asli Toylu, Mert Coskun, Banu Nur, Ilmay Bilge, Oya Uygur Bayramicli, Hakan Emmungil, Zeynep Komesli, Mujdat Zeybel, Figen Gurakan, Mehmet Tasdemir, Rejin Kebudi, Halil Gurhan Karabulut, Timur Tuncali, Nuket Yurur Kutlay, Cigdem Yuce Kahraman, Nerin Bahceciler Onder, Ilke Beyitler, Salih Kavukcu, Pinar Tulay, Ozgur Tosun, Gulten Tuncel, Gamze Mocan, Hamdi Kale, Zehra Oya Uyguner, Aynur Acar, Mert Altinay, Levent Erdem
Summary: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder characterized by recurrent fever, abdominal pain, joint manifestations, erysipelas-like erythema, and renal complications. This study analyzes the MEFV gene analysis results and clinical findings of 27,504 patients from Turkey and Northern Cyprus to better understand the genotype-phenotype correlation and provide insights into this complex disease.
FUNCTIONAL & INTEGRATIVE GENOMICS
(2022)
Article
Genetics & Heredity
Ayberk Turkyilmaz, Ceren Alavanda, Esra Arslan Ates, Bilgen Bilge Geckinli, Hamza Polat, Mehmet Gokcu, Taner Karakaya, Alper Han Cebi, Mehmet Ali Soylemez, Ahmet Ilter Guney, Pinar Ata, Ahmet Arman
Summary: This study aimed to reveal the genetic etiology in patients with Premature Ovarian Insufficiency (POI). Through various analyses including karyotype, SNP array, and whole-exome sequencing, rare novel variants associated with POI were identified, contributing to the mutation spectrum and highlighting the importance of genetic counseling and fertility planning for these patients.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Obstetrics & Gynecology
Munip Akalin, Oya Demirci, Guher Bolat, Ozge Kahramanoglu, Mucize Eric Ozdemir, Ali Karaman
Summary: This study found a high frequency of concomitant anomalies in foetal thoracic hypoplasia, with most newborns dying within the first 24 hours of life. Skeletal system and head-face anomalies were the most common accompanying anomalies.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Obstetrics & Gynecology
Ebru Cogendez, Enis Ozkaya, Aylin Cakiroglu Eser, Meryem Eken, Ali Karaman
Summary: This study found no relationship between CGG repeat lengths and ovarian reserve and response to controlled ovarian stimulation. It also showed that there is no clinical difference between FMR gene mutation related POI and other etiologies.
GINEKOLOGIA POLSKA
(2022)
Article
Obstetrics & Gynecology
Munip Akalin, Oya Demirci, Gizem E. Dizdarogullari, Erman Ciftci, Ali Karaman
Summary: This study aimed to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype. The results showed that aneuploidy was detected in 11.2% of the fetuses undergoing invasive genetic testing. CMA detected pathogenic or likely pathogenic chromosomal variants (pCNVs) in 6.9% of the fetuses. NGS detected pathogenic variants in 33.8% of the fetuses with benign chromosomal variants (bCNVs).
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
B. B. Geckinli, A. Turkyilmaz, C. Alavanda, H. Taslidere, G. Sager, E. Arslan Ates, M. A. Soylemez, A. Arman
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)