Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer by Alice Faversani, Debora Manuelli, Davide Barteselli, Giulia Melloni, Carlo Santaniello, Luigi Corsaro, Luigi Corsaro, Davide Sacco, Davide Sacco, Davide Clerici, Laura Gargiulo, Fulvio Ferrara, Lucy Costantino

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Characterization of an IncR Plasmid with Two Copies of ISCR-Linked qnrB6 from ST968 Klebsiella pneumoniae by Changrui Qian, Xinyi Zhu, Junwan Lu, Kai Shen, Qianqian Chen, Wangxiao Zhou, Hongmao Liu, Wei Lu, Danying Zhou, Zhewei Sun, Xi Lin, Kewei Li, Qiyu Bao, Teng Xu, Shunfei Lu

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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by N. A. Skryabin, S. A. Vasilyev, T. V. Nikitina, D. I. Zhigalina, R. R. Savchenko, N. P. Babushkina, M. E. Lopatkina, A. A. Kashevarova, I. N. Lebedev

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Use of the Adaptive Behaviour Dementia Questionnaire in a Down Syndrome Specialty Clinic by Nicolas M. Oreskovic, Ayesha Harisinghani, Caroline Bregman, Clorinda Cottrell, Margaret Pulsifer, Brian G. Skotko, Amy Torres, Alexa Gozdiff Spognardi, Stephanie L. Santoro

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Central Nervous System Involvement in Henoch-Schonlein Purpura in Children and Adolescents by Iliyana H. Pacheva, Ivan S. Ivanov, Krastina Stefanova, Elena Chepisheva, Lyubov Chochkova, Dafina Grozeva, Angelina Stoyanova, Stojan Milenkov, Penka Stefanova, Anna Petrova

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Caloric Intake, Oxidative Stress and Aging by Cheol Koo Lee, Tomas A. Prolla, Richard Weindruch

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A Robust Hybrid Approach Based on Estimation of Distribution Algorithm and Support Vector Machine for Hunting Candidate Disease Genes by Li Li, Hongmei Chen, Chang Liu, Fang Wang, Fangfang Zhang, Lihua Bai, Yihan Chen, Luying Peng

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Vasculopathy: a possible factor affecting hereditary angioedema by Anna Laura Colia, Alessandra Ranaldi, Rosa Santacroce, Giovanna D'Andrea, Angela Bruna Maffione, Maurizio Margaglione, Maria D'Apolito

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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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Association of high γ′ fibrinogen levels with adverse events in patients with COVID-19 by Queen Revollido, Lydia Buzzard, David X. Lee, Matthew Strnad, Scott McLoud, Akram Khan, William B. Messer, David H. Farrell

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Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy” by Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, Lucia Ziccardi

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Correction: Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

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Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis by Ting-Yu Chang, Zhu Wei Lim, Yi-Tzu Chu, Wan-Ju Wu, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Ho, Jin-Chung Shih, Gwo-Chin Ma, Ming Chen

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Relationship of the gene pool of the Khants with the peoples of Western Siberia, Cis-Urals and the Altai-Sayan Region according to the data on the polymorphism of autosomic locus a... by V. N. Kharkov, N. A. Kolesnikov, L. V. Valikhova, A. A. Zarubin, M. G. Svarovskaya, A. V. Marusin, I. Yu. Khitrinskaya, V. A. Stepanov

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Protein arginine methyltransferase 7 linked to schizophrenia through regulation of neural progenitor cell proliferation and differentiation by Ting Shen, Jing Yu, Bin Xie, Cuiping Huang, Jingjie Cui, Kefu Liu, Chunyu Liu, Chao Chen

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Iron Overload in Transfusion-Dependent Indonesian Thalassemic Patients by Pandji Irani Fianza, Anita Rahmawati, Sri Hudaya Widihastha, Shofura Afifah, Mohammad Ghozali, Andre Indrajaya, Dilli Marayuzan Akbar Pratama, Dimmy Prasetya, Teddy Arnold Sihite, Mas Rizky A. A. Syamsunarno, Djatnika Setiabudi, Suthat Fucharoen, Ramdan Panigoro

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Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups by V. A. Stepanov, N. A. Kolesnikov, L. V. Valikhova, A. A. Zarubin, I. Yu. Khitrinskaya, V. N. Kharkov

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Simultaneous detection of eight cancer types using a multiplex droplet digital PCR assay by Isabelle Neefs, Nele De Meulenaere, Thomas Vanpoucke, Janah Vandenhoeck, Dieter Peeters, Marc Peeters, Guy Van Camp, Ken Op de Beeck

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X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature by Emine Göktaş, Betül Okur Altındaş, Ayşe Gül Zamani, Mahmut Selman Yıldırım

“…The female proband who had recurrent spontaneous abortions was admitted to the Medical Genetics polyclinic. After clinical evaluation, conventional Giemsa-banded karyotyping was performed. …”
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Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients by Olga R. Ismagilova, Tagui A. Adyan, Tagui A. Adyan, Tatiana S. Beskorovainaya, Alexander V. Polyakov

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