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Select item 117663331.

Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies

Elisa Di Giorgio, Silvia Benavides-Varela, Annamaria Porru, Sara Caviola, Marco Lunghi, Paola Rigo, Giovanna Mioni, Giulia Calignano, Martina Annunziata, Eloisa Valenza, Valentina Liani, Federica Beghetti, Fabiola Spolaor, Elisa Bettella, Roberta Polli, Zimi Sawacha, Alessandra Murgia

Int J Mol Sci. 2025 Jan; 26(2): 771. Published online 2025 Jan 17. doi: 10.3390/ijms26020771

PMCID:: PMC11766333

Article PDF–2.1M

Select item 117579982.

Skeletal abnormalities caused by a Connexin43_R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia

Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Kishor Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst J. Reichenberger, I-Ping Chen

Bone Res. 2025; 13: 14. Published online 2025 Jan 23. doi: 10.1038/s41413-024-00383-z

PMCID:: PMC11757998

Article PDF–5.8M

Select item 117480883.

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations

Jia-Der Ju-Wang, Jennifer C. Dempsey, Cristian Zhang, Daniel Doherty, Manisha Witmans, Mary Anne Tablizo, Maida Lynn Chen

Ther Adv Respir Dis. 2025 Jan-Dec; 19: 17534666241308405. Published online 2025 Jan 16. doi: 10.1177/17534666241308405

PMCID:: PMC11748088

Article PDF–1.2M

Select item 117443634.

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review

Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

Mol Genet Genomic Med. 2025 Jan; 13(1): e70058. Published online 2025 Jan 20. doi: 10.1002/mgg3.70058

PMCID:: PMC11744363

Article PDF–1.1M

Select item 117281795.

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance

Dragana Protic, Roberta Polli, Elisa Bettella, Karen Usdin, Alessandra Murgia, Flora Tassone

Int J Mol Sci. 2024 Dec; 25(24): 13681. Published online 2024 Dec 21. doi: 10.3390/ijms252413681

PMCID:: PMC11728179

Article PDF–7.7M

Select item 117273256.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

Clin Epigenetics. 2025; 17: 5. Published online 2025 Jan 13. doi: 10.1186/s13148-024-01807-7

PMCID:: PMC11727325

Article PDF–1.1M

Select item 117263507.

An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies

Jae-Sung Yi, Sravan Perla, Anton M. Bennett

Cardiovasc Drugs Ther. Author manuscript; available in PMC 2025 Jan 13.

Published in final edited form as: Cardiovasc Drugs Ther. 2023 Dec; 37(6): 1193–1204. Published online 2022 Feb 14. doi: 10.1007/s10557-022-07324-0

PMCID:: PMC11726350

Article PDF–867K

Select item 117240918.

BBSome-deficient cells activate intraciliary CDC42 to trigger actin-dependent ciliary ectocytosis

Avishek Prasai, Olha Ivashchenko, Kristyna Maskova, Sofiia Bykova, Marketa Schmidt Cernohorska, Ondrej Stepanek, Martina Huranova

EMBO Rep. 2025 Jan; 26(1): 36–60. Published online 2024 Nov 25. doi: 10.1038/s44319-024-00326-z

PMCID:: PMC11724091

Article PDF–14M

Select item 117154149.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay

Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

BMC Pediatr. 2025; 25: 18. Published online 2025 Jan 9. doi: 10.1186/s12887-024-05267-z

PMCID:: PMC11715414

Article PDF–1.9M

Select item 1171166010.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

Fulvio D’Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, Jessica Garau, Luca Cattaneo, Monica Boggioni, Simone Gana, Roberta Battini, Enrico Bertini, Ginevra Zanni, Eugen Boltshauser, Renato Borgatti, Romina Romaniello, Sabrina Signorini, Vincenzo Leuzzi, Caterina Caputi, Filippo Manti, Stefano D’Arrigo, Arianna De Laurentiis, Claudio Graziano, Johannes R. Lemke, Federica Morelli, Danijela Petković Ramadža, Fabio Sirchia, Elisa Giorgio, Enza Maria Valente

Eur J Hum Genet. 2025 Jan; 33(1): 72–79. Published online 2024 Oct 11. doi: 10.1038/s41431-024-01703-x

PMCID:: PMC11711660

Article PDF–1.2M

Select item 1170005911.

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)

Hadiba Bibi, Riaz Ahmad, Fatima Rahman, Shazia Maqbool, Muhammad Naeem, Stephanie Efthymiou, Henry Houlden

Mol Biol Rep. 2025; 52(1): 101. Published online 2025 Jan 4. doi: 10.1007/s11033-024-10183-7

PMCID:: PMC11700059

Article PDF–1.7M

Select item 1169945312.

Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka

HGG Adv. 2025 Jan 9; 6(1): 100387. Published online 2024 Nov 26. doi: 10.1016/j.xhgg.2024.100387

PMCID:: PMC11699453

Article PDF–2.0M

Select item 1169826113.

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy

Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, Hongzheng Dai, John G. Pappas, Rachel Rabin, Karen J. Low, Jill A. Rosenfeld, Lisa Emrick, Rui Xiao, Fan Xia, Yaping Yang, Christine M. Eng, Anne Anderson, Vann Chau, Claudia Soler-Alfonso, Haley Streff, Seema R. Lalani, Saadet Mercimek-Andrews, Undiagnosed Diseases Network, the DDD Study, Weimin Bi

Clin Genet. Author manuscript; available in PMC 2025 Jan 3.

Published in final edited form as: Clin Genet. 2021 Aug; 100(2): 227–233. Published online 2021 Jun 1. doi: 10.1111/cge.13979

PMCID:: PMC11698261

Article PDF–1.0M

Select item 1169669914.

DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases

Qingqing Shi, Min Dai, Yingke Ma, Jun Liu, Xiuying Liu, Xiu-Jie Wang

Genomics Proteomics Bioinformatics. 2024 Oct; 22(5): qzae068. Published online 2024 Sep 30. doi: 10.1093/gpbjnl/qzae068

PMCID:: PMC11696699

Article PDF–974K

Select item 1168639315.

Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome

Mariana Parenti, Shannon Shoff, Jennie Sotelo-Orozco, Irva Hertz-Picciotto, Carolyn M. Slupsky

Sci Rep. 2024; 14: 31981. Published online 2024 Dec 30. doi: 10.1038/s41598-024-83587-x

PMCID:: PMC11686393

Article PDF–1.8M

Select item 1168483816.

常染色体显性智力发育障碍60型伴癫痫发作1例

孙莹莹, 刘慧, 刘淼, 梅世月, 马燕丽

Zhongguo Dang Dai Er Ke Za Zhi. 2024 Dec 15; 26(12): 1362–1366. Chinese. doi: 10.7499/j.issn.1008-8830.2408067

PMCID:: PMC11684838

Article PDF–1.6M

Select item 1168479917.

ATRX silences Cartpt expression in osteoblastic cells during skeletal development

Yi-Ting Chen, Ming-Ming Jiang, Carolina Leynes, Mary Adeyeye, Camilla F. Majano, Barakat Ibrahim, Urszula Polak, George Hung, Zixue Jin, Denise G. Lanza, Lan Liao, Brian Dawson, Yuqing Chen-Evenson, Oscar E. Ruiz, Richard J. Gibbons, Jason D. Heaney, Yangjin Bae, Brendan Lee

J Clin Invest. 2025 Jan 2; 135(1): e163587. Published online 2025 Jan 2. doi: 10.1172/JCI163587

PMCID:: PMC11684799

Article PDF–7.9M

Select item 1168410118.

Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj

Orphanet J Rare Dis. 2024; 19: 496. Published online 2024 Dec 30. doi: 10.1186/s13023-024-03486-2

PMCID:: PMC11684101

Article PDF–966K

Select item 1167415519.

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia

Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

BMC Pediatr. 2024; 24: 838. Published online 2024 Dec 27. doi: 10.1186/s12887-024-05329-2

Correction in:: BMC Pediatr. 2025; 25: 88.

PMCID:: PMC11674155

Article PDF–5.9M

Select item 1166941620.

Transmembrane and coiled‐coil 2 associates with Alzheimer's disease pathology in the human brain

Paul C. R. Hopkins, Claire Troakes, Andrew King, Guy Tear

Brain Pathol. 2025 Jan; 35(1): e13290. Published online 2024 Jul 31. doi: 10.1111/bpa.13290

PMCID:: PMC11669416

Article PDF–20M

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