Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders by Kim N. Wijnant, Nael Nadif Kasri, Lisenka E.L.M. Vissers

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Retroelement co-option disrupts the cancer transcriptional programme by Jane Loong, Rachael Thompson, Callum Hall, Laura Doglio, Judith Pape, Tobias Plowman, George Kassiotis

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Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses by Katherine A. Innamorati, Joshua P. Earl, Shirley C. Barrera, Rachel L. Ehrlich, Josephine Aiyeku, Ari Gordon, Evan Powell, Adam C. Retchless, Azad Ahmed, Bhaswati Sen, Sergey Balashov, Joshua Chang Mell, Sharon L. Hillier, Garth D. Ehrlich

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Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China by Xin Wang, Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Tao jiang, Zheng-feng Xu

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Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk by Marios K. Georgakis, Rainer Malik, Omar El Bounkari, Natalie R. Hasbani, Jiang Li, Jennifer E. Huffman, Gabrielle Shakt, Reinier W. P. Tack, Tamara N. Kimball, Yaw Asare, Alanna C. Morrison, Noah L. Tsao, Renae Judy, Braxton D. Mitchell, Huichun Xu, May E. Montasser, Ron Do, Eimear E. Kenny, Ruth J. F. Loos, James G. Terry, John Jeffrey Carr, Joshua C. Bis, Bruce M. Psaty, W. T. Longstreth, Kendra A. Young, Sharon M. Lutz, Michael H. Cho, Jai Broome, Alyna T. Khan, Fei Fei Wang, Nancy Heard-Costa, Sudha Seshadri, Ramachandran S. Vasan, Nicholette D. Palmer, Barry I. Freedman, Donald W. Bowden, Lisa R. Yanek, Brian G. Kral, Lewis C. Becker, Patricia A. Peyser, Lawrence F. Bielak, Farah Ammous, April P. Carson, Michael E. Hall, Laura M. Raffield, Stephen S. Rich, Wendy S. Post, Russel P. Tracy, Kent D. Taylor, Xiuqing Guo, Michael C. Mahaney, Joanne E. Curran, John Blangero, Shoa L. Clarke, Jeffrey W. Haessler, Yao Hu, Themistocles L. Assimes, Charles Kooperberg, Jürgen Bernhagen, Christopher D. Anderson, Scott M. Damrauer, Ramin Zand, Jerome I. Rotter, Paul S. de Vries, Martin Dichgans

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Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits by Ricardo A. Vialle, Katia de Paiva Lopes, Yan Li, Bernard Ng, Julie A. Schneider, Aron S. Buchman, Yanling Wang, Jose M. Farfel, Lisa L. Barnes, Aliza P. Wingo, Thomas S. Wingo, Nicholas T. Seyfried, Philip L. De Jager, Chris Gaiteri, Shinya Tasaki, David A. Bennett

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A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly by Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez

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Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital by Minh Ngoc Nguyen, Beryl Primrose Gladstone, Giulia De Angelis, Michael Biggel, Basil Britto Xavier, Christine Lammens, Qiang Lin, Sandra Van Puyvelde, Herman Goossens, Samir Kumar-Singh, Youri Glupczynski, Yehuda Carmeli, Evelina Tacconelli, Surbhi Malhotra-Kumar, the SATURN WP1, 4, 5 study groups

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A validated heart-specific model for splice-disrupting variants in childhood heart disease by Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital

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Genomic and functional analysis of rmp locus variants in Klebsiella pneumoniae by Margaret M. C. Lam, Stephen M. Salisbury, Logan P. Treat, Ryan R. Wick, Louise M. Judd, Kelly L. Wyres, Sylvain Brisse, Kimberly A. Walker, Virginia L. Miller, Kathryn E. Holt

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Microbiome-based therapeutics towards healthier aging and longevity by Saurabh Kadyan, Gwoncheol Park, Tejinder P. Singh, Cole Patoine, Saiful Singar, Teresa Heise, Christin Domeier, Chester Ray, Manoj Kumar, Pradip V. Behare, Paramita Chakrabarty, Philip Efron, Julia Sheffler, Ravinder Nagpal

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Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment by Máté Kiss, Laszlo Halasz, Eva Hadadi, Wilhelm K. Berger, Petros Tzerpos, Szilard Poliska, Daliya Kancheva, Aurélie Gabriel, Romina Mora Barthelmess, Ayla Debraekeleer, Jan Brughmans, Yvon Elkrim, Liesbet Martens, Yvan Saeys, Bence Daniel, Zsolt Czimmerer, Damya Laoui, Laszlo Nagy, Jo A. Van Ginderachter

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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort by Jamie C. Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Megan A. Dickson, Kyoko E. Yuki, Huayun Hou, Sydney Scholten, Kenzie Pulsifer, Meryl Acker, Meredith Laver, Harsha Murthy, Olivia M. Moran, Emily Bonnell, Nicole Liang, Jashanpreet Sidhu, Lucie Dupuis, Mohammad M. Ghahramani Seno, Care4Rare Canada Consortium, Marisa Chard, Rebekah K. Jobling, Jessie Cameron, Rose Chami, Michal Inbar-Feigenberg, Michael D. Wilson, David A. Chitayat, Kym M. Boycott, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Christian R. Marshall, James J. Dowling, Gregory Costain, Ashish R. Deshwar

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Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis by Rutao Li, Na Li, Qianqian Yang, Xing Tong, Wei Wang, Chang Li, Jun Zhao, Dong Jiang, Haitao Huang, Chen Fang, Kai Xie, Jiamin Yuan, Shaomu Chen, Guangbin Li, Haitao Luo, Zhibo Gao, Dongfang Wu, Xiaoli Cui, Wei Jiang, Lingchuan Guo, Haitao Ma, Yu Feng

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A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations by L. Nicolas Gonzalez Castro, Avishai Gavish, Lillian Bussema, Christopher W. Mount, Cyril Neftel, Masashi Nomura, E. Antonio Chiocca, Wenya Linda Bi, Omar Arnaout, Fred G. Barker, Justin M. Brown, Justin T. Jordan, Tracy T. Batchelor, Anat Stemmer-Rachamimov, Scott R. Plotkin, Itay Tirosh, Mario L. Suvà

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Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery by Arda Halu, Sarvesh Chelvanambi, Julius L. Decano, Joan T. Matamalas, Mary Whelan, Takaharu Asano, Namitra Kalicharran, Sasha A. Singh, Joseph Loscalzo, Masanori Aikawa

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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression by Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M. B. Carvalho

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A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder by Jiawei Wang, Yujing Liu, Hongyu Li, Tuan P. Nguyen, John Lee Soto-Vargas, Rashaun Wilson, Weiwei Wang, TuKiet T. Lam, Chi Zhang, Chen Lin, Traumatic Stress Brain Research Group, David A. Lewis, Jill Glausier, Paul E. Holtzheimer, Matthew J. Friedman, Kenneth R. Williams, Marina R. Picciotto, Angus C. Nairn, John H. Krystal, Ronald S. Duman, Keith A. Young, Hongyu Zhao, Matthew J. Girgenti

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A genome-wide One Health study of Klebsiella pneumoniae in Norway reveals overlapping populations but few recent transmission events across reservoirs by Marit A. K. Hetland, Mia A. Winkler, Håkon P. Kaspersen, Fredrik Håkonsholm, Ragna-Johanne Bakksjø, Eva Bernhoff, Jose F. Delgado-Blas, Sylvain Brisse, Annapaula Correia, Aasmund Fostervold, Margaret M. C. Lam, Bjørn-Tore Lunestad, Nachiket P. Marathe, Niclas Raffelsberger, Ørjan Samuelsen, Marianne Sunde, Arnfinn Sundsfjord, Anne Margrete Urdahl, Ryan R. Wick, Iren H. Löhr, Kathryn E. Holt

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STopover captures spatial colocalization and interaction in the tumor microenvironment using topological analysis in spatial transcriptomics data by Sungwoo Bae, Hyekyoung Lee, Kwon Joong Na, Dong Soo Lee, Hongyoon Choi, Young Tae Kim

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