SUBJECTS : Human Genetics | Rare Disease | Genomic Variation | Genetic Medicine | Genomic
HGG Advances: 2023, vol: , issue:
- 1)- Kelvin C de Andrade, Natasha T Strande, Jung Kim, Jeremy S Haley, Jessica N Hatton, Megan N Frone, Payal P Khincha, Gretchen M Thone, Uyenlinh L Mirshahi, Cynthia Schneider, Heena Desai, James T Dove, Diane T Smelser, Penn Medicine BioBank, Regeneron Genetics Center, Arnold J Levine, Kara N Maxwell, Douglas R Stewart, David J Carey, Sharon A Savage. Genome-First Approach of the Prevalence and Cancer Phenotypes of Pathogenic or Likely Pathogenic Germline TP53 Variants. HGG advances. 2023, 5 (1): 100242
Cited : 2Read More - 2)- Michael Bentz, Aliya Saperstein, Stephanie M Fullerton, Janet K Shim, Sandra Soo-Jin Lee. Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course. HGG advances. 2023, 5 (1): 100243Cited : 0Read More
- 3)- Emilia M Pinto, Cintia Fridman, Bonald C Figueiredo, Hector Salvador, Manuel R Teixeira, Carla Pinto, Manuela Pinheiro, Christian P Kratz, Cinzia Lavarino, Edith A M F Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F Walsh, Huma Q Rana, Kara N Maxwell, Judy E Garber, Carlos Rodriguez-Galindo, Raul C Ribeiro, Gerard P Zambetti. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. HGG advances. 2023, 5 (1): 100244Cited : 1Read More
- 4)- Yilun Li, Kin Yau Wong, Annie Green Howard, Penny Gordon-Larsen, Heather M Highland, Mariaelisa Graff, Kari E North, Carolina G Downie, Christy L Avery, Bing Yu, Kristin L Young, Victoria L Buchanan, Robert Kaplan, Lifang Hou, Brian Thomas Joyce, Qibin Qi, Tamar Sofer, Jee-Young Moon, Dan-Yu Lin. Mendelian randomization with incomplete measurements on the exposure in the Hispanic Community Health Study/Study of Latinos. HGG advances. 2023, 5 (1): 100245Cited : 0Read More
- 5)- Vishal Sarsani, Sarah M Brotman, Yin Xianyong, Lillian Fernandes Silva, Markku Laakso, Cassandra N Spracklen. A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin. HGG advances. 2023, 5 (1): 100252Cited : 0Read More
- 6)- Tianzhong Yang, Lauren J Mills, Aubrey K Hubbard, Rui Cao, Andrew Raduski, Mitchell J Machiela, Logan G Spector. Genetic analyses identify evidence for a causal relationship between Ewing sarcoma and hernias. HGG advances. 2023, 5 (1): 100254Cited : 0Read More
- 7)- Sheethal Jose, Gail Geller, Juli Bollinger, Debra Mathews, Jeffrey Kahn, Brian T Garibaldi. The ethics of using COVID-19 host genomic information for clinical and public health decision-making: A survey of US health professionals. HGG advances. 2023, 5 (1): 100255Cited : 0Read More
- 8)- Jihong Guo, Wen-Bin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Yu Zheng, Liu Zhao, Chen Tan, Yongteng Guo, Lan-Lan Meng, Wei Liu, Mei Deng, Xinghan Wu, Yu Peng, Shuju Zhang, Guang-Xiu Lu, Ge Lin, Hua Wang, Yue-Qiu Tan, Yongjia Yang. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192. HGG advances. 2023, 5 (1): 100256Cited : 0Read More
- 9)- Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S Johar, Iftikhar J Kullo, Keyue Ding. Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly. HGG advances. 2023, 5 (1): 100258Cited : 1Read More
- 10)- Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P Modi, Catherine M Biggs, Cyrus Boelman, Lorne A Clarke, Anna Lehman, Stuart E Turvey. Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism. HGG advances. 2023, 5 (1): 100259Cited : 0Read More
- 11)- Ren-Hua Chung, Shao-Yuan Chuang, Yong-Sheng Zhuang, Yi-Syuan Jhang, Tsung-Hsien Huang, Guo-Hung Li, I-Shou Chang, Chao A Hsiung, Hung-Yi Chiou. Evaluating polygenic risk scores for predicting cardiometabolic traits and disease risks in the Taiwan Biobank. HGG advances. 2023, 5 (1): 100260Cited : 0Read More
- 12)- Daniel S Araujo, Chris Nguyen, Xiaowei Hu, Anna V Mikhaylova, Chris Gignoux, Kristin Ardlie, Kent D Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H Cho, Stephen S Rich, Jerome I Rotter, , Hae Kyung Im, Ani Manichaikul, Heather E Wheeler. Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations. HGG advances. 2023, 4 (4): 100216Cited : 0Read More
- 13)- Sunwoo Jung, Cue Hyunkyu Lee, Jae Hoon Sul, Buhm Han. Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data. HGG advances. 2023, 4 (4): 100223Cited : 0Read More
- 14)- Hannah C Beird, Chia-Chin Wu, Michael Nakazawa, Davis Ingram, Joseph R Daniele, Rossana Lazcano, Latasha Little, Christopher Davies, Najat C Daw, Khalida Wani, Wei-Lien Wang, Xingzhi Song, Curtis Gumbs, Jianhua Zhang, Brian Rubin, Anthony Conley, Adrienne M Flanagan, Alexander J Lazar, P Andrew Futreal. Complete loss of and is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma. HGG advances. 2023, 4 (4): 100224Cited : 0Read More
- 15)- Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wadt. is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances. 2023, 4 (4): 100225Cited : 1Read More
- 16)- Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Gold. Phenotypes of undiagnosed adults with actionable and variants. HGG advances. 2023, 4 (4): 100226Cited : 0Read More
- 17)- Zhou Zhou, Xumei Huang, Xia Tang, Wen Chen, Qianlong Chen, Chaohui Zhang, Yuxin Li, Dachun Zhao, Zhe Zheng, Shengshou Hu, Jikui Wang, Iftikhar J Kullo, Keyue Ding. Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly. HGG advances. 2023, 4 (4): 100227Cited : 0Read More
- 18)- Apolline Jungels, Lindsay Demers, Eric Ford, Blair K Stevens, Maya Sabatello, Shoumita Dasgupta. Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling. HGG advances. 2023, 4 (4): 100228Cited : 0Read More
- 19)- Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis. variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids. HGG advances. 2023, 4 (4): 100229Cited : 4Read More
- 20)- Qiang Ye, Sarah A Gagliano Taliun. Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study. HGG advances. 2023, 4 (4): 100230Cited : 0Read More
- 21)- Anna Middleton, Alessia Costa, Richard Milne, Christine Patch, Lauren Robarts, Ben Tomlin, Mark Danson, Sasha Henriques, Jerome Atutornu, Ugbaad Aidid, Daniela Boraschi, Catherine Galloway, Keith Yazmir, Sachi Pettit, Tegan Harcourt, Alannah Connolly, Amanda Li, Jacob Cala, Shelby Lake, Julian Borra, Vivienne Parry. The legacy of language: What we say, and what people hear, when we talk about genomics. HGG advances. 2023, 4 (4): 100231Cited : 4Read More
- 22)- Elizabeth E Blue, Janson J White, Michael K Dush, William W Gordon, Brent H Wyatt, Peter White, Colby T Marvin, Emmi Helle, Tiina Ojala, James R Priest, Mary M Jenkins, Lynn M Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C Brody, Kim L McBride, Vidu Garg, Gary M Shaw, Paul A Romitti, Wendy N Nembhard, Marilyn L Browne, Martha M Werler, Denise M Kay, , , Seema Mital, Jessica X Chong, Nanette M Nascone-Yoder, Michael J Bamshad. Rare variants in increase risk for isolated hypoplastic left heart syndrome. HGG advances. 2023, 4 (4): 100232Cited : 0Read More
- 23)- Matthew Dapas, Yu Lin Lee, William Wentworth-Sheilds, Hae Kyung Im, Carole Ober, Nathan Schoettler. Revealing polygenic pleiotropy using genetic risk scores for asthma. HGG advances. 2023, 4 (4): 100233Cited : 1Read More
- 24)- Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie. Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate. HGG advances. 2023, 4 (4): 100234Cited : 1Read More
- 25)- Daniel Shriner, Amy R Bentley, Mateus H Gouveia, Elisabeth F Heuston, Ayo P Doumatey, Guanjie Chen, Jie Zhou, Adebowale Adeyemo, Charles N Rotimi. Universal Genome-Wide Association Studies: Powerful Joint Ancestry and Association Testing. HGG advances. 2023, 4 (4): 100235Cited : 0Read More
- 26)- Joseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González. Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy. HGG advances. 2023, 4 (4): 100236Cited : 0Read More
- 27)- Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S Cornelis, , Carel B Hoyng, Kati Kämpjärvi, Caroline C W Klaver, Petra Liskova, Heidi Stohr, Bernhard H F Weber, Sandro Banfi, G Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P M Cremers. Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability. HGG advances. 2023, 4 (4): 100237Cited : 3Read More
- 28)- Yosuke Nishio, Kohji Kato, Tran Mau-Them Frederic, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh. Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome. HGG advances. 2023, 4 (4): 100238Cited : 1Read More
- 29)- Soyoung Jeon, Ying Chu Lo, Libby M Morimoto, Catherine Metayer, Xiaomei Ma, Joseph L Wiemels, Adam J de Smith, Charleston W K Chiang. Evaluating Genomic Polygenic Risk Scores for Childhood Acute Lymphoblastic Leukemia in Latinos. HGG advances. 2023, 4 (4): 100239Cited : 1Read More
- 30)- Thales C Nepomuceno, Tzeh Keong Foo, Marcy E Richardson, John Michael O Ranola, Jamie Weyandt, Matthew J Varga, Amaya Alarcon, Diana Gutierrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond Kim, Susan Armel, Edwin Iversen, Fergus J Couch, Åke Borg, Bing Xia, Marcelo A Carvalho, Alvaro N A Monteiro. BRCA1 frameshift variants leading to extended incorrect protein C-termini. HGG advances. 2023, 4 (4): 100240Cited : 1Read More
- 31)- Michael D Osterman, Yeunjoo E Song, Audrey Lynn, Kristy Miskimen, Larry D Adams, Renee A Laux, Laura J Caywood, Michael B Prough, Jason E Clouse, Sharlene D Herington, Susan H Slifer, Sarada L Fuzzell, Sherri D Hochstetler, Leighanne R Main, Daniel A Dorfsman, Andrew F Zaman, Paula Ogrocki, Alan J Lerner, Jeffery M Vance, Michael L Cuccaro, William K Scott, Margaret A Pericak-Vance, Jonathan L Haines. Founder population-specific weights yield improvements in performance of polygenic risk scores for Alzheimer's disease in the Midwestern Amish. HGG advances. 2023, 4 (4): 100241Cited : 0Read More
- 32)- Jingchen Ren, Zhaotong Lin, Ruoyu He, Xiaotong Shen, Wei Pan. Using GWAS summary data to impute traits for genotyped individuals. HGG advances. 2023, 4 (3): 100197Cited : 1Read More
- 33)- Ruipeng Wei, Lamis Yehia, Ying Ni, Charis Eng. The mitochondrial genome as a modifier of autism versus cancer phenotypes in hamartoma tumor syndrome. HGG advances. 2023, 4 (3): 100199Cited : 1Read More
- 34)- Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E L M Vissers. A complex structural variant near causes X-linked split-hand/foot malformation. HGG advances. 2023, 4 (3): 100200Cited : 0Read More
- 35)- Patrick Allaire, Jing He, John Mayer, Luke Moat, Peter Gerstenberger, Reynor Wilhorn, Sierra Strutz, David S L Kim, Chenjie Zeng, Nancy Cox, Jerry W Shay, Joshua Denny, Lisa Bastarache, Scott Hebbring. Genetic and clinical determinants of telomere length. HGG advances. 2023, 4 (3): 100201Cited : 6Read More
- 36)- Arslan A Zaidi, Anurag Verma, Colleen Morse, , Marylyn D Ritchie, Iain Mathieson. The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort. HGG advances. 2023, 4 (3): 100202Cited : 1Read More
- 37)- Daria Pinakhina, Alexander Loboda, Alexey Sergushichev, Mykyta Artomov. Gene, cell type, and drug prioritization analysis suggest genetic basis for the utility of diuretics in treating Alzheimer disease. HGG advances. 2023, 4 (3): 100203Cited : 1Read More
- 38)- Jaye Moors, Mohanraj Krishnan, Nick Sumpter, Riku Takei, Matt Bixley, Murray Cadzow, Tanya J Major, Amanda Phipps-Green, Ruth Topless, Marilyn Merriman, Malcolm Rutledge, Ben Morgan, Jenna C Carlson, Jerry Z Zhang, Emily M Russell, Guangyun Sun, Hong Cheng, Daniel E Weeks, Take Naseri, Muagututi'a Sefuiva Reupena, Satupa'itea Viali, John Tuitele, Nicola L Hawley, Ranjan Deka, Stephen T McGarvey, Janak de Zoysa, Rinki Murphy, Nicola Dalbeth, Lisa Stamp, Mele Taumoepeau, Frances King, Phillip Wilc. A Polynesianspecific missense CETP variant alters the lipid profile. HGG advances. 2023, 4 (3): 100204Cited : 3Read More
- 39)- Lindsay Fernández-Rhodes. Beyond borders: A commentary on the benefit of promoting immigrant populations in genome-wide association studies. HGG advances. 2023, 4 (3): 100205Cited : 0Read More
- 40)- Leah R Padgett, Mollie R Shinkle, Spencer Rosario, Tracy Murray Stewart, Jackson R Foley, Robert A Casero, Myung Hee Park, Wendy K Chung, Teresa L Mastracci. Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. HGG advances. 2023, 4 (3): 100206Cited : 1Read More
- 41)- Andrea R V R Horimoto, Lisa A Boyken, Elizabeth E Blue, Kelsey E Grinde, Rafael A Nafikov, Harkirat K Sohi, Alejandro Q Nato, Joshua C Bis, Luis I Brusco, Laura Morelli, Alfredo Ramirez, Maria Carolina Dalmasso, Seth Temple, Claudia Satizabal, Sharon R Browning, Sudha Seshadri, Ellen M Wijsman, Timothy A Thornton. Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations. HGG advances. 2023, 4 (3): 100207Cited : 3Read More
- 42)- Shreya Chakraborty, Bratati Kahali. Exome-wide analysis reveals role of and additional novel loci in cognition. HGG advances. 2023, 4 (3): 100208Cited : 0Read More
- 43)- Meriem Bahda, Jasmin Ricard, Simon L Girard, Michel Maziade, Maripier Isabelle, Alexandre Bureau. Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits. HGG advances. 2023, 4 (3): 100209Cited : 0Read More
- 44)- Christopher P Castro, Adam G Diehl, Alan P Boyle. Challenges in screening for noncoding variants contributing to genetically complex phenotypes. HGG advances. 2023, 4 (3): 100210Cited : 0Read More
- 45)- Travis J Meyers, Jie Yin, Victor A Herrera, Alice R Pressman, Thomas J Hoffmann, Catherine Schaefer, Andrew L Avins, Hélène Choquet. Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine. HGG advances. 2023, 4 (3): 100211Cited : 2Read More
- 46)- Li Fang, Alex Mas Monteys, Alexandra Dürr, Megan Keiser, Congsheng Cheng, Akhil Harapanahalli, Pedro Gonzalez-Alegre, Beverly L Davidson, Kai Wang. Erratum: Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing. HGG advances. 2023, 4 (3): 100212Cited : 0Read More
- 47)- Jessica X Chong, Matthew Carter Childers, Colby T Marvin, Anthony J Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S Aylsworth, Kati J Buckingham, Kathryn M Shively, Olivia Sommers, Kailyn Anderson, , , Michael Regnier, Michael J Bamshad. Variants in underlie distal arthrogryposis accompanied by congenital heart defects. HGG advances. 2023, 4 (3): 100213Cited : 4Read More
- 48)- Ozvan Bocher, Arthur Gilly, Young-Chan Park, Eleftheria Zeggini, Andrew P Morris. Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction. HGG advances. 2023, 4 (3): 100214Cited : 0Read More
- 49)- Dominique L Brooks, Madelynn N Whittaker, Hooda Said, Garima Dwivedi, Ping Qu, Kiran Musunuru, Rebecca C Ahrens-Nicklas, Mohamad-Gabriel Alameh, Xiao Wang. A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant. HGG advances. 2023, : 100253Cited : 5Read More
- 50)- Kathryn O Farley, Catherine A Forbes, Nicole C Shaw, Emma Kuzminski, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S Fear. CRISPR/Cas9 generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction. HGG advances. 2023, : 100257Cited : 0Read More
