Adaptive clinical trial of AZD7442 and SARS-CoV-2 vaccination in immunosuppressed patients highly vulnerable to infection with SARS-CoV-2 virus (RAPID-PROTECTION): protocol for a m... by Ernest Choy, Kerenza Hood, Emma Thomas-Jones, Eleanor Barnes, Keith Wilson, Christian H Ottensmeier, Debbie Harris, Adrian Hill, Mark Tuthill, Richard Adams, Catherine Porter, Katie Ewer, Sian Griffin, Rebecca Tangney, Joanne Euden, Shirley Pringle, Lawrence Raisanen, Ruby Ray, Lisette Sheena Nixon, Melanie Varley, Craig Bodman, Paola Cicconi, Vivien Dagley, Steven Knapper

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Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study by Liye Lai, Dave Laurence Juntilla, Monica Del, Monica Del C Gomez-Alonso, Harald Grallert, Barbara Thorand, Aiman Farzeen, Wolfgang Rathmann, Juliane Winkelmann, Holger Prokisch, Christian Gieger, Christian Herder, Annette Peters, Melanie Waldenberger

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A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity by Sandra J. Hasstedt, Yuanpei Xin, Rong Mao, Tracey Lewis, Ted D. Adams, Steven C. Hunt

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Quantifying the regulatory potential of genetic variants via a hybrid sequence-oriented model with SVEN by Yu Wang, Nan Liang, Ge Gao

“…Understanding the transcription effects of noncoding genetic variants are still major unsolved problems, which is critical for downstream applications in human genetics and precision medicine. Here, we integrate regulatory-specific neural networks and tissue-specific gradient-boosting trees to build SVEN: a hybrid sequence-oriented architecture that can accurately predict tissue-specific gene expression level and quantify the tissue-specific transcriptomic impacts of structural variants across more than 350 tissues and cell lines. …”
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Bilateral acute macular neuroretinopathy following influenza A infection by Charles W. Ryan, Rajesh C. Rao

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Availability and occurrence of coelenterazine in a Swedish fjord to maintain Amphiura filiformis bioluminescence by Constance Coubris, Khaled Mirzaei, Laurent Duchatelet, Jérôme Mallefet

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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

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DNA Methyltransferase 3B Gene Promoter and Interleukin-1 Receptor Antagonist Polymorphisms in Childhood Immune Thrombocytopenia by Margarita Pesmatzoglou, Marilena Lourou, George N. Goulielmos, Eftichia Stiakaki

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The Association between Single-Nucleotide Polymorphisms of ORAI1 Gene and Breast Cancer in a Taiwanese Population by Wei-Chiao Chang, Peng Yeong Woon, Yu-Wen Hsu, Shengyu Yang, Yi-Ching Chiu, Ming Feng Hou

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Commentary on the published position statement regarding the pathogenesis of fetal basal ganglia- thalamic hypoxic-ischaemic injury by J Anthony, J Smith, L Murray, G F Kirsten, G Gericke, Y Kara, V Davies, D Pearce, R van Toorn, M M Lippert, J W Lotz, S Andronikou, B Alheit, L van Wyk, A S Ebrahim, B S Schifrin

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Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study by Christine Mae S. Avila, Mary Ann R. Abacan

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A Role for CD154, the CD40 Ligand, in Granulomatous Inflammation by Julien Villeneuve, Alexis Desmoulière, Antoine Dewitte, Nelly Bordeau, Pierre Costet, Laia Bassaganyas, Jean-Christophe Fricain, Jean Ripoche, Sébastien Lepreux

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A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit by Edwin F. Juarez, Bennet Peterson, Erica Sanford Kobayashi, Sheldon Gilmer, Laura E. Tobin, Brandan Schultz, Jerica Lenberg, Jeanne Carroll, Shiyu Bai-Tong, Nathaly M. Sweeney, Curtis Beebe, Lawrence Stewart, Lauren Olsen, Julie Reinke, Elizabeth A. Kiernan, Rebecca Reimers, Kristen Wigby, Chris Tackaberry, Mark Yandell, Charlotte Hobbs, Matthew N. Bainbridge

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The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome by Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady

“…Settings and Design: This cross-sectional, descriptive study was performed in Human Genetics Department, Medical Research Institute, Alexandria University. …”
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Periodic Distribution of a Putative Nucleosome Positioning Motif in Human, Nonhuman Primates, and Archaea: Mutual Information Analysis by Daniela Sosa, Pedro Miramontes, Wentian Li, Víctor Mireles, Juan R. Bobadilla, Marco V. José

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Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report by Oliver Stelzig, Beatrix Mühlegger, Anna Zschocke, Ursula Kiechl-Kohlendorfer, Elke Griesmaier

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Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations by Lucas Tricoli, Sunetra Sase, Julia L. Hacker, Vi Pham, Maxwell Chappell, Laura Breda, Stephanie N. Hurwitz, Naoto Tanaka, Carlo Castruccio Castracani, Amaliris Guerra, Zhongqi Hou, Lars Schlotawa, Karthikeyan Radhakrishnan, Matthew Hogenauer, Aoife Roche, John Everett, Frederic Bushman, Peter Kurre, Rebecca Ahrens-Nicklas, Laura A. Adang, Adeline L. Vanderver, Stefano Rivella

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Single-cell morphological tracking of cell states to identify small-molecule modulators of liver differentiation by Rebecca E. Graham, Runshi Zheng, Jesko Wagner, Asier Unciti-Broceta, David C. Hay, Stuart J. Forbes, Victoria L. Gadd, Neil O. Carragher

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The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations by B. A. Malyarchuk

“…The results of studies in Quaternary geology, archeology, paleoanthropology and human genetics demonstrate that the ancestors of Native Americans arrived in mid-latitude North America mainly along the Pacific Northwest Coast, but had previously inhabited the Arctic and during the last glacial maximum were in a refugium in Beringia, a land bridge connecting Eurasia and North America. …”
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