Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1047 Records) |
Query Trace: Copy number variants[original query] |
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Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve. PloS one 2024 9 19 (9): e0304514. Steven G Carlisle, Hasan Albasha, Hector I Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T Yetman, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Dianna M Milewicz, Simon C Body, Siddharth K Prakash, , |
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease. Kidney international reports 2024 9 9 (9): 2695-2704. Laura R Claus, Robert F Ernst, Martin G Elferink, Hanneke W M van Deutekom, Bert van der Zwaag, Albertien M van Eer |
Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study. BMC pregnancy and childbirth 2024 9 24 (1): 606. Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Ch |
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner. bioRxiv : the preprint server for biology 2024 9 . Toni A Boltz, Benjamin B Chu, Calwing Liao, Julia M Sealock, Robert Ye, Lerato Majara, Jack M Fu, Susan Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Matthew DeFelice, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin McMahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, , Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Mart |
Differential inflammatory profiles in carriers of reciprocal 22q11.2 copy number variants. Psychoneuroendocrinology 2024 8 169 107135. Kathleen P O'Hora, Carolyn M Amir, Emily Chiem, Charles H Schleifer, Vardui Grigoryan, Leila Kushan-Wells, Jessica J Chiang, Steven Cole, Michael R Irwin, Carrie E Beard |
The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study. medRxiv : the preprint server for health sciences 2024 8 . Kensuke Daida, Hiroyo Yoshino, Laksh Malik, Breeana Baker, Mayu Ishiguro, Rylee Genner, Kimberly Paquette, Yuanzhe Li, Kenya Nishioka, Satoshi Masuzugawa, Makito Hirano, Kenta Takahashi, Mikhail Kolmogolv, Kimberley J Billingsley, Manabu Funayama, Cornelis Blauwendraat, Nobutaka Hatto |
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death. Birth defects research 2024 8 116 (8): e2396. Nan Huang, Hegan Zhang, Zhengping Huang, Xiaoxia Wu, Na Zhang, Yuying Jiang, Chunnuan Chen, Jianlong Zhua |
Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype. The Journal of international medical research 2024 8 52 (8): 3000605241271837. Liu Ouyang, Yan Li, Fangfang Liu, Qin Ze |
Copy number variants differ in frequency across genetic ancestry groups. HGG advances 2024 8 100340. Laura M Schultz, Alexys Knighton, Guillaume Huguet, Zohra Saci, Martineau Jean-Louis, Josephine Mollon, Emma E M Knowles, David C Glahn, Sébastien Jacquemont, Laura Alma |
Whole genome sequencing study of identical twins discordant for psychosis. Translational psychiatry 2024 7 14 (1): 313. Cathal Ormond, Niamh M Ryan, Anna M Hedman, Tyrone D Cannon, Patrick F Sullivan, Michael Gill, Christina Hultman, Elizabeth A Heron, Viktoria Johansson, Aiden Corv |
Return of genetic research results in 21,532 individuals with autism. Genetics in medicine : official journal of the American College of Medical Genetics 2024 7 101202. Jessica R Wright, Irina Astrovskaya, Sarah D Barns, Alexandra Goler, Xueya Zhou, Chang Shu, LeeAnne Green Snyder, Bing Han, , Yufeng Shen, Natalia Volfovsky, Jacob B Hall, Pamela Feliciano, Wendy K Chu |
CLINICAL AND COGNITIVE PHENOTYPING OF COPY NUMBER VARIANTS PATHOGENIC FOR NEURODEVELOPMENTAL DISORDERS FROM A MULTI-ANCESTRY BIOBANK. medRxiv : the preprint server for health sciences 2024 7 . Nina Zaks, Behrang Mahjani, Abraham Reichenberg, Rebecca Birnba |
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International journal of molecular sciences 2024 7 25 (14): . Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Tö |
High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease. NPJ Parkinson's disease 2024 7 10 (1): 134. Chaodong Wang, Hankui Liu, Xu-Ying Li, Jinghong Ma, Zhuqin Gu, Xiuli Feng, Shu Xie, Bei-Sha Tang, Shengdi Chen, Wei Wang, Jian Wang, Jianguo Zhang, Piu Ch |
Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2024 7 32 (3): 9. Xiali Jiang, Bin Liang, Bilian Chen, Xiaoqing Wu, Yan Wang, Na Lin, Hailong Huang, Liangpu |
Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders. HGG advances 2024 6 100316. Sara Azidane Chenlo, Xavier Gallego, Lynn Durham, Mario Cáceres, Emre Guney, Laura Pérez-Ca |
Common genetic variants associated with urinary phthalate levels in children: A genome-wide study. Environment international 2024 6 190 108845. Mariona Bustamante, Laura Balagué-Dobón, Zsanett Buko, Amrit Kaur Sakhi, Maribel Casas, Lea Maitre, Sandra Andrusaityte, Regina Grazuleviciene, Kristine B Gützkow, Anne-Lise Brantsæter, Barbara Heude, Claire Philippat, Leda Chatzi, Marina Vafeiadi, Tiffany C Yang, John Wright, Amy Hough, Carlos Ruiz-Arenas, Ramil N Nurtdinov, Geòrgia Escaramís, Juan R González, Cathrine Thomsen, Martine Vrijhe |
Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants. JAMA psychiatry 2024 6 . Morteza Vaez, Simone Montalbano, Xabier Calle Sánchez, Kajsa-Lotta Georgii Hellberg, Saeid Rasekhi Dehkordi, Morten Dybdahl Krebs, Joeri Meijsen, John Shorter, Jonas Bybjerg-Grauholm, Preben B Mortensen, Anders D Børglum, David M Hougaard, Merete Nordentoft, Daniel H Geschwind, Alfonso Buil, Andrew J Schork, Dorte Helenius, Armin Raznahan, Wesley K Thompson, Thomas Werge, Andrés Ingason, |
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer. Cancer medicine 2024 6 13 (12): e7384. Shang-Hung Chen, Ka-Po Tse, Yen-Jung Lu, Shu-Jen Chen, Yu-Feng Tian, Kien Thiam Tan, Chien-Feng |
Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational psychiatry 2024 6 14 (1): 259. Jessica H Hall, Samuel J R A Chawner, , Jeanne Wolstencroft, David Skuse, Jeremy Hall, Peter Holmans, Michael J Owen, Marianne B M van den Br |
Contribution of copy number variants on antipsychotic treatment response in Han Chinese patients with schizophrenia. EBioMedicine 2024 6 105 105195. Yaoyao Sun, Yuyanan Zhang, Zhe Lu, Yundan Liao, Qidi Feng, Mingrui Yu, Yu Chen, Zhewei Kang, Xiaoyang Feng, Guorui Zhao, Junyuan Sun, Yang Yang, Liangkun Guo, Dai Zhang, Wenjian Bi, Hailiang Huang, Weihua Y |
ANOS1 accelerates the progression of esophageal cancer identified by multi-omic approaches. American journal of cancer research 2024 6 14 (5): 2343-2370. Zuoquan Zhu, Shikun Dong, Shaolei Qin, Ke Gu, Yanjun Zh |
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes. The Journal of clinical endocrinology and metabolism 2024 5 . Julian Martinez-Mayer, Sebastian Vishnopolska, Catalina Perticarari, Lucia Iglesias Garcia, Martina Hackbartt, Marcela Martinez, Jonathan Zaiat, Andrea Jacome-Alvarado, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Roxana Marino, Pablo Ramírez, Natalia Pérez Garrido, Marta Ciaccio, Maria Isabel Di Palma, Alicia Belgorosky, Maria Veronica Forclaz, Gabriela Benzrihen, Silvia D'Amato, Maria Lujan Cirigliano, Mirta Miras, Alejandra Paez Nuñez, Laura Castro, Maria Susana Mallea-Gil, Carolina Ballarino, Laura Latorre-Villacorta, Ana Clara Casiello, Claudia Hernandez, Veronica Figueroa, Guillermo Alonso, Analia Morin, Zelmira Guntsche, Hane Lee, Eugene Lee, Yongjun Song, Marcelo Adrian Marti, Maria Ines Perez-Mill |
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases. JAMA network open 2024 5 7 (5): e2414198. Dongheon Surl, Dongju Won, Seung-Tae Lee, Christopher Seungkyu Lee, Junwon Lee, Hyun Taek Lim, Seung Ah Chung, Won Kyung Song, Min Kim, Sung Soo Kim, Saeam Shin, Jong Rak Choi, Riccardo Sangermano, Suk Ho Byeon, Kinga M Bujakowska, Jinu H |
The copy number variant architecture of psychopathology and cognitive development in the ABCD study. medRxiv : the preprint server for health sciences 2024 5 . Zhiqiang Sha, Kevin Y Sun, Benjamin Jung, Ran Barzilay, Tyler M Moore, Laura Almasy, Jennifer K Forsyth, Smrithi Prem, Michael J Gandal, Jakob Seidlitz, Joseph T Glessner, Aaron F Alexander-Blo |
Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly. Frontiers in medicine 2024 5 11 1349171. Fagui Yue, Xiao Yang, Ning Liu, Ruizhi Liu, Hongguo Zha |
Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis. Birth defects research 2024 5 116 (5): e2351. Xinying Chen, Yuying Jiang, Shuhong Zeng, Jianlong Zhuang, Na L |
Tumor microenvironmental determinants of high-risk DCIS progression. Research square 2024 5 . Alexander Borowsky, Alexa Glencer, Kirithiga Ramalingam, Nicole Schindler, Hidetoshi Mori, Parchi Ghule, Kyra Lee, Daniela Nachmanson, Adam Officer, Olivier Harismendy, Janet Stein, Gary Stein, Mark Evans, Donald Weaver, Christina Yau, Gillian Hirst, Michael Campbell, Laura Esserm |
Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability. Frontiers in psychiatry 2024 5 15 1369767. Zoe Schmilovich, Vincent-Raphaël Bourque, Elise Douard, Guillaume Huguet, Cécile Poulain, Jay P Ross, Paria Alipour, Charles-Étienne Castonguay, Nadine Younis, Martineau Jean-Louis, Zohra Saci, Zdenka Pausova, Tomas Paus, Gunter Schuman, David Porteous, Gail Davies, Paul Redmond, Sarah E Harris, Ian J Deary, Heather Whalley, Caroline Hayward, Patrick A Dion, Sébastien Jacquemont, Guy A Roule |
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers. Nature communications 2024 5 15 (1): 4165. Rebecca J Deyell, Yaoqing Shen, Emma Titmuss, Katherine Dixon, Laura M Williamson, Erin Pleasance, Jessica M T Nelson, Sanna Abbasi, Martin Krzywinski, Linlea Armstrong, Melika Bonakdar, Carolyn Ch'ng, Eric Chuah, Chris Dunham, Alexandra Fok, Martin Jones, Anna F Lee, Yussanne Ma, Richard A Moore, Andrew J Mungall, Karen L Mungall, Paul C Rogers, Kasmintan A Schrader, Alice Virani, Kathleen Wee, Sean S Young, Yongjun Zhao, Steven J M Jones, Janessa Laskin, Marco A Marra, Shahrad R Rasse |
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