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The American Journal of Human Genetics

IF
论文数145
被引数
期刊论文 145
发表时间
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsLDB1基因中的新生变异与由变异位置和不同致病机制决定的独特神经发育表型相关
delete2026-06-19
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deleteRebecca Fluri; Mireia Coll-Tané; Theresa Brunet; Benjamin Cogne; Solene Conrad; Mathilde Nizon; Francesco Nicita; Lorena Travaglini; Antonio Novelli; Margie Glissmeyer; Amanda Peterson; Jillian G. Buchan; Dan Serber; Kolja Meier; Jutta Gärtner; Susann Diegmann; Veronique Pingault; Tania Attie-Bitach; Thomas Courtin; Michael C. Schneider
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Complete chromosome 21 centromere sequencing of families with Down syndrome21号染色体着丝粒在唐氏综合征家庭中的全序列分析
delete2026-06-17
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deleteF. Kumara Mastrorosa; Alessia Daponte; Luciana de Gennaro; Shu-Cheng Chuang; Jiadong Lin; Yang Sui; David Porubsky; Keisuke K. Oshima; Julie Wertz; Allison N. Rozanski; William T. Harvey; Yanni Wang; Tiffany Y. Leung; Daniel D. Chan; Weiya He; Jordan Knuth; Gage H. Garcia; Marcelo Ayllon; Katherine M. Munson; Kendra Hoekzema
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Genome-wide analysis implicates inner ear development in Ménière disease全基因组分析表明内耳发育与梅尼埃病有关
delete2026-06-16
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deleteZhuozheng Shi; Ravi Mandla; Jingjing Li; Xinzhe Li; Zixuan (Eleanor) Zhang; Sixing Chen; Sandra Lapinska; Alexander O. Flynn-Carroll; Bogdan Pasaniuc; Douglas J. Epstein; Iain Mathieson
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HiFi sequencing accurately identifies clinically relevant variants in paralogous genesHiFi测序能准确识别同源基因中的临床相关变异
delete2026-06-04
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PREAI
deleteBart van der Sanden; Christian Betz; Katharina Herzog; Esther Schamschula; Katharina Wimmer; Inga Vater; Saranya Balachandran; Xiao Chen; Jordi Corominas Galbany; Raoul Timmermans; Ronny Derks; Malte Spielmann; Michael A. Eberle; Christian Gilissen; Lisenka E.L.M. Vissers; Johannes Zschocke; Hanno J. Bolz; Alexander Hoischen
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This month in The Journal本月《期刊》
delete2026-06-04
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PREAI
deletePaul W. Hook; Alyson B. Barnes
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DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populationsDiscoDivas:利用遗传世系连续信息为混血人群插值PRS
delete2026-06-03
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deleteYunfeng Ruan; Rohan Bhukar; Aniruddh Patel; Satoshi Koyama; Leland Hull; Buu Truong; So Mi Cho; Whitney Hornsby; Haoyu Zhang; Nilanjan Chatterjee; Pradeep Natarajan
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Guidance on communication and informed consent with patients and their families for experimental individualized treatments与患者及其家属就实验性个体化治疗进行沟通和知情同意的指导
delete2026-05-26
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deleteAnnemieke Aartsma-Rus; Claudio M. de Gusmao; Scott Demarest; Matias Wagner; Georg Marckmann; Charlotte Kogel; Roseline Favresse; Rebecca Schuele; Matthis Synofzik; Holm Graessner; Lynn Bush; Timothy W. Yu
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Polymorphic CGG repeats in gene regulation and disease基因调控和疾病中的多态性CGG重复序列
delete2026-05-22
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PREAI
deleteYijing Zhao; Dale Annear; Emily G. Allen; R. Frank Kooy; David L. Nelson; Peng Jin
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Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly单等位基因PSMB8变异通过干扰免疫蛋白酶体组装导致伴免疫缺陷的PRAAS
delete2026-05-21
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deleteRobin Wijngaard; Caspar I. van der Made; Sema Kalkan Uçar; Gayatri Ramakrishnan; Man Wang; Johannes Brand; Jill A. Rosenfeld; Tiphanie P. Vogel; Sarah K. Nicholas; Monika Weisz-Hubshman; Clara D.M. van Karnebeek; Eric J. Allenspach; Taylor E. Gardiner; Sumudu Perera Kimmantudawage; Zornitza Stark; Ruth K. Armstrong; Janine Campbell; Stefano Volpi; Enrico Drago; Marco Gattorno
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Genetics of skeletal proportions across two different populations两种不同人群中骨骼比例的遗传学
delete2026-05-19
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deleteEric Bartell; Kuang Lin; Kristin Tsuo; Wei Gan; Sailaja Vedantam; Joanne B. Cole; John M. Baronas; Loic Yengo; Eirini Marouli; Tiffany Amariuta; Zhengming Chen; Liming Li; Nora E. Renthal; Christina M. Jacobsen; Rany M. Salem; Robin G. Walters; Joel N. Hirschhorn
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A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine下一代Kabuki综合征表观遗传签名实现了对KMT2D变异影响的精细定位,以指导精准医学
delete2026-05-13
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PREAI
deleteMengqi Wang; Shaimaa Helal; Arteen Torabi-Marashi; Sarah Goodman; Prajkta Kallurkar; Tina K. Truong; Emma Mizrahi-Powell; Gilad D. Evrony; Inara Chacon-Fonseca; Irene Valenzuela Palafoll; Peter Kannu; Amélie Piton; David Chitayat; Cornelius F. Boerkoel; Robert Mendoza-Londono; Juan Dario Ortigoza-Escobar; Michael Kwint; Dmitrijs Rots; Tjitske Kleefstra; Monica H. Wojcik
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The impact of sex on the immune system explored at the single-cell level性别对免疫系统影响在单细胞水平的探索
delete2026-05-07
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deleteSeyhan Yazar; Jose Alquicira-Hernandez; Kristof Wing; Anne Senabouth; Stacey Andersen; Kirsten A. Fairfax; Alex W. Hewitt; Joseph E. Powell; Sara Ballouz
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This month in The Journal本月《期刊》
delete2026-05-07
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PREAI
deletePaul W. Hook; Alyson B. Barnes
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Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles新几内亚高地人类白细胞抗原等位基因中病原体驱动的选择和南岛语系基因流动的印记
delete2026-05-04
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deleteNeus Font-Porterias; Neda Nemat-Gorgani; Katherine M. Kichula; Dana R. Al-Hindi; Genelle F. Harrison; Sudan Tao; Faming Zhu; Gonzalo Montero-Martin; Marcelo A. Fernández-Viña; Lisbeth A. Guethlein; Peter Parham; Stephen J. Oppenheimer; Alexander G. Ioannidis; Andrés Moreno-Estrada; William Pomat; Alexander J. Mentzer; Brenna M. Henn; Paul J. Norman
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