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Items: 1 to 20 of 500

1.
Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome
Sung Eun Wang, Yubao Cheng, Jaechul Lim, Mi-Ae Jang, Emily N. Forrest, Yuna Kim, Meaghan Donahue, Sungsin Jo, Sheng-Nan Qiao, Dong Eun Lee, Jun Young Hong, Yan Xiong, Jian Jin, Siyuan Wang, Yong-hui Jiang
Nat Commun. 2025; 16: 6125. Published online 2025 Jul 3. doi: 10.1038/s41467-025-61156-8
PMCID:
PMC12229668
ArticlePDF–7.5M
2.
Exposure to COVID-19 virus-like particles modulates firing patterns of cortical neurons in the mouse brain
Aniruddha Das, Jacob Icardi, Julie Borovicka, Sarah Holden, Henry F. Harrison, Alec J. Hirsch, Jacob Raber, Hod Dana
Commun Biol. 2025; 8: 993. Published online 2025 Jul 3. doi: 10.1038/s42003-025-08435-8
PMCID:
PMC12229650
ArticlePDF–1.7M
3.
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Silvestre Cuinat, Nicolas Chatron, Florence Petit, Perrine Brunelle, Etienne Dincuff, Marion Aubert Mucca, Eric Bieth, Ariane Schmetz, Harald Rieder, Bernd Wollnik, Silke Kaulfuß, Gökhan Yigit, Colina McKeown, Tim Savage, Meghan R. Mulligan, Louise S. Bicknell, Nicole Corsten-Janssen, Patrick Edery, Gaetan Lesca, Jean-Pierre de Villartay, Audrey Putoux
Eur J Hum Genet. 2025 Jul; 33(7): 842–851. Published online 2025 Mar 20. doi: 10.1038/s41431-025-01821-0
PMCID:
PMC12229645
ArticlePDF–2.2M
4.
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort
María Carolina Sanabria-Salas, Ana Lucía Rivera-Herrera, María Carolina Manotas, Gonzalo Guevara, Ana Milena Gómez, Vilma Medina, Sandra Tapiero, Antonio Huertas, Marcela Nuñez, Miguel Zamir Torres, Julián Riaño-Moreno, Rafael Parra-Medina, Juan Carlos Mejía, Luis G. Carvajal-Carmona
Eur J Hum Genet. 2025 Jul; 33(7): 913–929. Published online 2025 Mar 10. doi: 10.1038/s41431-025-01807-y
PMCID:
PMC12229586
ArticlePDF–1.4M
5.
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population
Pam A.T. Heutinck, Adriana I. Iglesias, Dariush D. Farhud, Marianne van Tienhoven, Atiyeh Khoshraftar, Marjan Zarif-Yeganeh, Sima Kheradmand Kia, Mohsen Ghanbari, Magda A. Smoor, Caroline C.W. Klaver, Lies H. Hoefsloot, Alberta A.H.J. Thiadens, Virginie J.M. Verhoeven
Sci Rep. 2025; 15: 23745. Published online 2025 Jul 3. doi: 10.1038/s41598-025-08272-z
PMCID:
PMC12229322
ArticlePDF–1.9M
6.
Construction of exosome non-coding RNA feature for non-invasive, early detection of gastric cancer patients by machine learning: a multi-cohort study
Ze-Rong Cai, Yong-Qiang Zheng, Yan Hu, Meng-Yao Ma, Yi-Jin Wu, Jia Liu, Lu-Ping Yang, Jia-Bo Zheng, Tian Tian, Pei-Shan Hu, Ze-Xian Liu, Lin Zhang, Rui-Hua Xu, Huai-Qiang Ju
Gut. 2025 Jan; 74(6): e333522. Published online 2025 Jan 3. doi: 10.1136/gutjnl-2024-333522
PMCID:
PMC12229063
ArticlePDF–3.5M
7.
Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review
Anran Tian, Sujuan Li, Furong Liang, Minglan Yao, Niusha Mostafavi, Yingying Li, Xiaoping Luo, Cai Zhang
Ital J Pediatr. 2025; 51: 209. Published online 2025 Jul 5. doi: 10.1186/s13052-025-02067-8
PMCID:
PMC12229024
ArticlePDF–3.1M
8.
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
Monika Weisz-Hubshman, Lindsay C. Burrage, Sharayu V. Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke Bergmann, Manuela Friederike Richter, Malgorzata Rydzanicz, Rafal Ploski, Agnieszka Stembalska, Wendy K. Chung, Rebecca R. Hernan, Foong Y. Lim, Theresa Brunet, Steffen Syrbe, Boris Keren, Solveig Heide, David R. Murdock, Hongzheng Dai, Fan Xia, Shamika Ketkar, Brian Dawson, Vinodh Narayanan, Hillary K. Graves, Undiagnosed Diseases Network, Michael F. Wangler, Carlos Bacino, Brendan Lee
Genet Med. Author manuscript; available in PMC 2025 Jul 5.
Published in final edited form as: Genet Med. 2025 Apr; 27(4): 101369. Published online 2025 Jan 28. doi: 10.1016/j.gim.2025.101369
PMCID:
PMC12228429
ArticlePDF–1.6M
9.
HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer
Anna-Lena Katzke, Marvin Doebel, Jan Hauke, Gunnar Schmidt, Marc Sturm
Hum Genomics. 2025; 19: 76. Published online 2025 Jul 4. doi: 10.1186/s40246-025-00787-w
PMCID:
PMC12228362
ArticlePDF–1.2M
10.
Clinical features and novel pathogenic variants of patients with Behçet’s disease like trisomy 8
Xingru Ding, Jinghan Yang, Xiao Han, Yi-Fan Shen, Kangkang Yang, Yaoyao Shangguan, Yiwei Dong, Xiaohua Ye
Orphanet J Rare Dis. 2025; 20: 340. Published online 2025 Jul 4. doi: 10.1186/s13023-025-03878-y
PMCID:
PMC12228353
ArticlePDF–1.7M
11.
Resolution of experimental malaria-associated acute respiratory distress syndrome is Alox12 independent and shows residual inflammation
Fran Prenen, Bram De Pauw, Sofie Knoops, Emilie Pollenus, Hendrik Possemiers, Johan Van Weyenbergh, Philippe E. Van den Steen
Malar J. 2025; 24: 216. Published online 2025 Jul 4. doi: 10.1186/s12936-025-05462-y
PMCID:
PMC12228167
ArticlePDF–7.1M
12.
Tracing the evolutionary pathway of SARS-CoV-2 through RNA sequencing analysis
Mostafa Rezapour, Sean V. Murphy, David A. Ornelles, Patrick M. McNutt, Anthony Atala
Sci Rep. 2025; 15: 23961. Published online 2025 Jul 4. doi: 10.1038/s41598-025-09911-1
PMCID:
PMC12227573
ArticlePDF–3.8M
13.
Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism
Yonatan Perez, Dmitry Velmeshev, Li Wang, Matthew L. White, Clara Siebert, Jennifer Baltazar, Guolong Zuo, Juan Andrés Moriano, Songcang Chen, David M. Steffen, Natalia Garcia Dutton, Shaohui Wang, Brittney Wick, Maximilian Haeussler, Stormy Chamberlain, Arturo Alvarez-Buylla, Arnold Kriegstein
Nat Commun. 2025; 16: 6177. Published online 2025 Jul 4. doi: 10.1038/s41467-025-61184-4
PMCID:
PMC12227528
ArticlePDF–6.1M
14.
What can we learn from scoliosis in children with the 22q11.2 deletion syndrome? Prognostic factors at pre-adolescent age for fast progressive, mild and self-resolving forms during adolescence
Sabrina Donzelli, Peter Lafranca, Marteen Van Smeden, René Castelein, Tom Schlösser
Spine Deform. 2025; 13(4): 1179–1187. Published online 2025 Mar 20. doi: 10.1007/s43390-025-01073-4
PMCID:
PMC12227487
ArticlePDF–1.0M
15.
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population
Madiha Shadab, Afif Ben-Mahmoud, Luis Nicolás Martínez Völter, Ansar Ahmed Abbasi, Bonsu Ku, Ahsan Ejaz, Zahid Latif, Vijay Gupta, Daniel Owrang, Mi-Hyeon Jang, Zijin Zhang, Rahema Mohammad, Henry Houlden, Hyung-Goo Kim, Barbara Vona
Mol Diagn Ther. 2025; 29(4): 519–537. Published online 2025 May 16. doi: 10.1007/s40291-025-00782-w
PMCID:
PMC12227476
ArticlePDF–3.2M
16.
Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report
Korentin Le Floch, Jeanne Barillon, Maria Chiara Bonanno, Bénédicte Héron, Cyril Mignot, Florence Renaldo, François Chalard
Pediatr Radiol. 2025; 55(7): 1537–1541. Published online 2025 May 29. doi: 10.1007/s00247-025-06268-5
PMCID:
PMC12227365
ArticlePDF–906K
17.
Variants in NR6A1 cause a novel oculo vertebral renal syndrome
Uma M. Neelathi, Ehsan Ullah, Aman George, Mara I. Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams, David McGaughey, Yuri V. Sergeev, Ranya AI Rawi, Amelia Naik, Chelsea Bender, Irene H. Maumenee, Michel Michaelides, Tun Giap Tan, Siying Lin, Rafael Villasmil, Delphine Blain, Robert B. Hufnagel, Gavin Arno, Rodrigo M. Young, Bin Guan, Brian P. Brooks
Nat Commun. 2025; 16: 6111. Published online 2025 Jul 3. doi: 10.1038/s41467-025-60574-y
PMCID:
PMC12226721
ArticlePDF–5.5M
18.
Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study
Mariana Cortez Ferreira, Joana De Beir, Maria Inês Barreto, Joana Afonso Ribeiro, Cristina Pereira, Guiomar Oliveira
Eur J Pediatr. 2025; 184(7): 465. Published online 2025 Jul 3. doi: 10.1007/s00431-025-06291-6
PMCID:
PMC12226632
ArticlePDF–849K
19.
On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469
Anne Elisabeth Christensen Mellgren, Ileana Cristea, Thomas Stevenson, Endy Spriet, Per Morten Knappskog, Stig Ove Bøe, Harald Kranz, Sushma N. Grellscheid, Eyvind Rødahl
FEBS Open Bio. 2025 Jul; 15(7): 1054–1067. Published online 2025 Mar 29. doi: 10.1002/2211-5463.70034
PMCID:
PMC12226416
ArticlePDF–3.5M
20.
Fertility-sparing treatment outcomes using immune checkpoint inhibitors in endometrial cancer patients with Lynch syndrome
Xintong Yang, Yu Xue, Wenyu Shao, Weiwei Shan, Zhiying Xu, Yiqin Wang, Xiaojun Chen
J Gynecol Oncol. 2025 Jul; 36(4): e59. Published online 2025 Jan 3. doi: 10.3802/jgo.2025.36.e59
PMCID:
PMC12226331
ArticlePDF–3.1M

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