Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

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RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis by Qian Liu, Feifei Li, Qin Ruan, Nana Wang, Zhengjun Fan

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Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort by Amornchai Suksusut, Jidapa Jaitheang, Manussavee Prapphal, Pranee Sutcharitchan, Ponlapat Rojnuckarin, Noppacharn Uaprasert

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Peculiarities of the Phraseology of Mexican National Variant of Spanish Language by I. V. Guseva

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Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome) by Majid Alfadhel, Bashayr S. Alhubayshi, Muhammad Umair, Ahmed Alfaidi, Deemah Alwadaani, Essra Aloyouni, Safdar Abbas, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Ruaa S. Alharithy, Abdulaziz Alajlan, Abdulrahman Alswaid, Saad Almohrij, Sultan Al-Khenaizan

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Risk Predictors for Mortality in Inpatients with Cancer and Coronavirus Disease 2019 during the Omicron Wave by Kuan-Yu Chen, Chih-Cheng Lai, Chien-Tai Huang, Yin-Hsun Feng

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Pitfalls in clinical genetics by Hui-Lin Chin, Denise Li Meng Goh

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Variation in Nutritional Qualities and Antioxidant Capacity of Different Leaf Mustard Cultivars by Wenjuan Cheng, Anqi Luo, Hongxia Li, Zhifeng Chen, Zhongrong Guan, Victor Hugo Escalona, Duchen Liu, Yu’nong Zhou, Fen Zhang, Zhi Huang, Yi Tang, Huanxiu Li, Bo Sun, Kehao Liang, Xuena Yu

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Integration of a Large-Scale Genetic Analysis Workbench Increases the Accessibility of a High-Performance Pathway-Based Analysis Method by Sungyoung Lee, Taesung Park

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Enhancing the utility of polygenic scores in Alzheimer’s disease through systematic curation and annotation by Savannah Mwesigwa, Yulin Dai, Nitesh Enduru, Zhongming Zhao, Zhongming Zhao

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Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant by Shuai Zhang, Guanyu Fu, Gongping Sun, Yuanxin Tang, Jin Meng, Zhigang Wang, Rongjun Su, Wei Liu, Xiaoxia Li

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Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersResearch in context by Pedro A.F. Galante, Gabriela D.A. Guardia, Janina Pisani, Renata L. Sandoval, Mateus C. Barros-Filho, Ana Carolina Leite Vieira Costa Gifoni, Diogo F.C. Patrão, Patricia Ashton-Prolla, Vitor Fiorin de Vasconcellos, Claire Freycon, Arnold Levine, Pierre Hainaut, Maria Isabel Achatz

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A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia by Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

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Spatial and temporal epidemiology of SARS-CoV-2 virus lineages in Teesside, UK, in 2020: effects of socio-economic deprivation, weather, and lockdown on lineage dynamics by Moss, E.D., Rushton, S.P., Baker, P., Bashton, M., Crown, M.R., dos Santos, R.N., Nelson, A., O’Brien, S.J., Richards, Z., Sanderson, R.A., Yew, W.C., Young, G.R., McCann, C.M., Smith, D.L.

Subjects: “…COVID-19, variant, autoregressive model, non-pharmaceutical interventions, local restrictions…”
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Ajouts, omissions, substitutions : la main fautive des copistes dans le texte de L’Éducation sentimentale by Pierre-Marc de Biasi, Déborah Boltz

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A Universal Analysis Pipeline for Hybrid Capture-Based Targeted Sequencing Data with Unique Molecular Indexes by Min-Jung Kim, Si-Cho Kim, Young-Joon Kim

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Resensitizing β‐Lactams by Reprogramming Purine Metabolism in Small Colony Variant for Osteomyelitis Treatment by Tingwang Shi, Qiong Wu, Zesong Ruan, Zhiyuan Luo, Wenbo Wang, Zhao Guo, Yihong Ma, Xin Wang, Guangyu Chu, Han Lin, Min Ge, Yunfeng Chen

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Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2 by Yan Long, Chenghan Wang, Jie Xiao, Yunhua Huang, Xiaoting Ling, Chaoyu Huang, Ying Chen, Jiaqi Luo, Rongheng Tang, Faquan Lin, Yifang Huang

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Lynch syndrome screening in colorectal and endometrial cancers in Iceland by Katla R. Kluvers, Thordur Tryggvason, Vigdis Stefansdottir, Jon G. Jonasson, Petur Snaebjornsson, Sigurdis Haraldsdottir

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

Subjects: “…intronic variant…”
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