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Items: 1 to 20 of 323

1.
Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population
Qiongfen Lin, Detao Zhang, Peter J. Gruber, Paul Kwong-hang Tam, Vincent Chi-hang Lui, Zhongluan Wu, Haifa Hong, Kenneth R. Chien, Pak Chung Sham, Clara Sze-man Tang
HGG Adv. 2025 Apr 10; 6(2): 100414. Published online 2025 Feb 6. doi: 10.1016/j.xhgg.2025.100414
PMCID:
PMC11910093
ArticlePDF–4.6M
2.
Unbiased causal inference with Mendelian randomization and covariate-adjusted GWAS data
Peiyao Wang, Zhaotong Lin, Wei Pan
HGG Adv. 2025 Apr 10; 6(2): 100412. Published online 2025 Jan 30. doi: 10.1016/j.xhgg.2025.100412
PMCID:
PMC11875156
ArticlePDF–454K
3.
Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of COVID-19 and idiopathic pulmonary fibrosis
Trisha Dalapati, Liuyang Wang, Angela G. Jones, Jonathan Cardwell, Iain R. Konigsberg, Yohan Bossé, Don D. Sin, Wim Timens, Ke Hao, Ivana Yang, Dennis C. Ko
HGG Adv. 2025 Apr 10; 6(2): 100410. Published online 2025 Jan 27. doi: 10.1016/j.xhgg.2025.100410
PMCID:
PMC11872446
ArticlePDF–4.7M
4.
Response to Karp-Tatham et al.
Astrid Marchal, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze
HGG Adv. 2025 Apr 10; 6(2): 100407. Published online 2025 Jan 17. doi: 10.1016/j.xhgg.2025.100407
PMCID:
PMC11836477
ArticlePDF–183K
5.
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6
Blaine A. Bates, Kylee E. Bates, Spencer A. Boris, Colin Wessman, David Stone, Justin Bryan, Mary F. Davis, Matthew H. Bailey
HGG Adv. 2025 Apr 10; 6(2): 100405. Published online 2025 Jan 11. doi: 10.1016/j.xhgg.2025.100405
PMCID:
PMC11830373
ArticlePDF–2.4M
6.
Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma
Li Yan, Qianchuan He, Shiv P. Verma, Xu Zhang, Ann-Sophie Giel, Carlo Maj, Kathryn Graz, Elnaz Naderi, Jianhong Chen, Mourad Wagdy Ali, Puya Gharahkhani, Xiang Shu, Kenneth Offit, Pari M. Shah, Hans Gerdes, Daniela Molena, Amitabh Srivastava, Stuart MacGregor, BEACON Consortium, OCCAMS Consortium, Esophageal Cancer Consortium, Claire Palles, René Thieme, Michael Vieth, Ines Gockel, Thomas L. Vaughan, Johannes Schumacher, Matthew F. Buas
HGG Adv. 2025 Apr 10; 6(2): 100399. Published online 2025 Jan 3. doi: 10.1016/j.xhgg.2025.100399
PMCID:
PMC11815673
ArticlePDF–3.2M
7.
Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics
Hanna Abe, Phillip Lin, Dan Zhou, Douglas M. Ruderfer, Eric R. Gamazon
HGG Adv. 2025 Apr 10; 6(2): 100397. Published online 2024 Dec 31. doi: 10.1016/j.xhgg.2024.100397
PMCID:
PMC11830375
ArticlePDF–3.8M
8.
An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome
Tess Levy, J. Lloyd Holder, Jr., Joseph P. Horrigan, Michael F. Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M. Siper, Alexander Kolevzon
HGG Adv. 2025 Apr 10; 6(2): 100393. Published online 2024 Dec 16. doi: 10.1016/j.xhgg.2024.100393
PMCID:
PMC11772936
ArticlePDF–2.0M
9.
Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension
Tiril P. Gurholt, Torbjørn Elvsåshagen, Shahram Bahrami, Zillur Rahman, Alexey Shadrin, Daniel E. Askeland-Gjerde, Dennis van der Meer, Oleksandr Frei, Tobias Kaufmann, Ida E. Sønderby, Sigrun Halvorsen, Lars T. Westlye, Ole A. Andreassen
HGG Adv. 2025 Jan 9; 6(1): 100392. Published online 2024 Dec 10. doi: 10.1016/j.xhgg.2024.100392
PMCID:
PMC11731578
ArticlePDF–3.7M
10.
Phenotypic findings associated with variation in elastin
Anne Justice, Melissa A. Kelly, Gary Bellus, Joshua D. Green, Raza Zaidi, Taylor Kerrins, Navya Josyula, Teresa R. Luperchio, Beth A. Kozel, Marc S. Williams
HGG Adv. 2025 Jan 9; 6(1): 100388. Published online 2024 Nov 27. doi: 10.1016/j.xhgg.2024.100388
PMCID:
PMC11730535
ArticlePDF–2.4M
11.
MGA-related syndrome: A proposed novel disorder
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
ArticlePDF–2.0M
12.
A multi-ancestry genome-wide association study identifies novel candidate loci in the RARB gene associated with hypertensive disorders of pregnancy
Jasmine A. Mack, Adam Burkholder, Farida S. Akhtari, John S. House, Ulla Sovio, Gordon C.S. Smith, Charles P. Schmitt, David C. Fargo, Janet E. Hall, Alison A. Motsinger-Reif
HGG Adv. 2025 Jan 9; 6(1): 100385. Published online 2024 Nov 22. doi: 10.1016/j.xhgg.2024.100385
PMCID:
PMC11667702
ArticlePDF–2.4M
13.
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome
Swetha Ramadesikan, Iftekhar A. Showpnil, Mohammad Marhabaie, Allison Daley, Elizabeth A. Varga, Umamaheswaran Gurusamy, Matthew T. Pastore, Emily R. Sites, Murugu Manickam, Dennis W. Bartholomew, Jesse M. Hunter, Peter White, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt
HGG Adv. 2025 Jan 9; 6(1): 100379. Published online 2024 Nov 4. doi: 10.1016/j.xhgg.2024.100379
PMCID:
PMC11621934
ArticlePDF–2.5M
14.
Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification
Kejia Zhang, Katharina Löhner, Henny H. Lemmink, Maartje Boon, Jenna M. Lentini, Naduni de Silva, Dragony Fu
HGG Adv. 2025 Jan 9; 6(1): 100377. Published online 2024 Oct 31. doi: 10.1016/j.xhgg.2024.100377
PMCID:
PMC11615593
ArticlePDF–2.7M
15.
Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review
Hridya Rao, Margaret C. Weiss, Jee Young Moon, Krista M. Perreira, Martha L. Daviglus, Robert Kaplan, Kari E. North, Maria Argos, Lindsay Fernández-Rhodes, Tamar Sofer
HGG Adv. 2025 Jan 9; 6(1): 100376. Published online 2024 Oct 29. doi: 10.1016/j.xhgg.2024.100376
PMCID:
PMC11754138
ArticlePDF–3.4M
16.
Variants in the β-globin locus are associated with pneumonia in African American children
Nadine L.N. Halligan, Sarah C. Hanks, Karen Matsuo, Taylor Martins, Sebastian Zöllner, Michael W. Quasney, Laura J. Scott, Mary K. Dahmer
HGG Adv. 2025 Jan 9; 6(1): 100374. Published online 2024 Oct 22. doi: 10.1016/j.xhgg.2024.100374
PMCID:
PMC11664401
ArticlePDF–2.7M
17.
HCV- and HBV-mediated liver cancer converge on similar transcriptomic landscapes and immune profiles
Elizabeth S. Borden, Annika Jorgensen, Heini M. Natri, Karen Taraszka Hastings, Kenneth H. Buetow, Melissa A. Wilson
HGG Adv. 2025 Jan 9; 6(1): 100373. Published online 2024 Oct 19. doi: 10.1016/j.xhgg.2024.100373
PMCID:
PMC11570839
ArticlePDF–5.6M
18.
Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects
Lavanya Gunamalai, Parul Singh, Brian Berg, Leilei Shi, Ernesto Sanchez, Alexa Smith, Ghislain Breton, Mark T. Bedford, Darius Balciunas, Ashish Kapoor
HGG Adv. 2025 Jan 9; 6(1): 100358. Published online 2024 Sep 30. doi: 10.1016/j.xhgg.2024.100358
PMCID:
PMC11532988
ArticlePDF–2.3M
19.
A phenome-wide association study of polygenic scores for selected childhood cancer: Results from the UK Biobank
Eun Mi Jung, Andrew R. Raduski, Lauren J. Mills, Logan G. Spector
HGG Adv. 2025 Jan 9; 6(1): 100356. Published online 2024 Sep 26. doi: 10.1016/j.xhgg.2024.100356
PMCID:
PMC11538869
ArticlePDF–3.0M
20.
Comparison of methods for building polygenic scores for diverse populations
Sophia Gunn, Xin Wang, Daniel C. Posner, Kelly Cho, Jennifer E. Huffman, Michael Gaziano, Peter W. Wilson, Yan V. Sun, Gina Peloso, Kathryn L. Lunetta
HGG Adv. 2025 Jan 9; 6(1): 100355. Published online 2024 Sep 25. doi: 10.1016/j.xhgg.2024.100355
PMCID:
PMC11532986
ArticlePDF–2.8M

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