Loading…
Conserved microRNA targeting reveals preexisting gene dosage sensitivities that shaped amniote sex chromosome evolution
Naqvi, Sahin, Bellott, Daniel W., Lin, Kathy S., Page, David C.
Published in Genome research (01.04.2018)
Published in Genome research (01.04.2018)
Get full text
Journal Article
Loading…
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund‐Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Kokalj Vokac, Nadja, Thorland, Erik C., Andersen, Erica, Martin, Christa L.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
Get full text
Journal Article
Loading…
Mitochondria DNA Change and Oxidative Damage in Clinically Stable Patients with Major Depressive Disorder
Chang, Cheng-Chen, Jou, Shaw-Hwa, Lin, Ta-Tsung, Lai, Te-Jen, Liu, Chin-San
Published in PloS one (06.05.2015)
Published in PloS one (06.05.2015)
Get full text
Journal Article
Loading…
Loading…
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder
Bergen, S E, O'Dushlaine, C T, Ripke, S, Lee, P H, Ruderfer, D M, Akterin, S, Moran, J L, Chambert, K D, Handsaker, R E, Backlund, L, Ösby, U, McCarroll, S, Landen, M, Scolnick, E M, Magnusson, P K E, Lichtenstein, P, Hultman, C M, Purcell, S M, Sklar, P, Sullivan, P F
Published in Molecular psychiatry (01.09.2012)
Published in Molecular psychiatry (01.09.2012)
Get full text
Journal Article
Loading…
Characterization of Single Gene Copy Number Variants in Schizophrenia
Szatkiewicz, Jin P., Fromer, Menachem, Nonneman, Randal J., Ancalade, NaEshia, Johnson, Jessica S., Stahl, Eli A., Rees, Elliott, Bergen, Sarah E., Hultman, Christina M., Kirov, George, O’Donovan, Michael, Owen, Michael, Holmans, Peter, Sklar, Pamela, Sullivan, Patrick F., Purcell, Shaun M., Crowley, James J., Ruderfer, Douglas M.
Published in Biological psychiatry (1969) (15.04.2020)
Published in Biological psychiatry (1969) (15.04.2020)
Get full text
Journal Article
Loading…
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
Fakhro, Khalid A., Choi, Murim, Ware, Stephanie M., Belmont, John W., Towbin, Jeffrey A., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina
Published in Proceedings of the National Academy of Sciences - PNAS (15.02.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (15.02.2011)
Get full text
Journal Article
Loading…
Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2 Variants
Liu, Siwen, Pei, Pei, Li, Lin, Wu, Hairong, Zheng, Xuefei, Wang, Songtao, Xiao, Yang, Pan, Hong, Bao, Xinhua, Qi, Yu, Ma, Yinan
Published in The Journal of pediatrics (01.02.2022)
Published in The Journal of pediatrics (01.02.2022)
Get full text
Journal Article
Loading…
Loading…
α-Lipoic acid treatment increases mitochondrial biogenesis and promotes beige adipose features in subcutaneous adipocytes from overweight/obese subjects
Fernández-Galilea, Marta, Pérez-Matute, Patricia, Prieto-Hontoria, Pedro L., Houssier, Marianne, Burrell, María A., Langin, Dominique, Martínez, J. Alfredo, Moreno-Aliaga, María J.
Published in Biochimica et biophysica acta (01.03.2015)
Published in Biochimica et biophysica acta (01.03.2015)
Get full text
Journal Article
Loading…
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
Get full text
Journal Article
Loading…
High rate of disease-related copy number variations in childhood onset schizophrenia
Ahn, K, Gotay, N, Andersen, T M, Anvari, A A, Gochman, P, Lee, Y, Sanders, S, Guha, S, Darvasi, A, Glessner, J T, Hakonarson, H, Lencz, T, State, M W, Shugart, Y Y, Rapoport, J L
Published in Molecular psychiatry (01.05.2014)
Published in Molecular psychiatry (01.05.2014)
Get full text
Journal Article
Loading…
Increase in blood derived mitochondrial DNA copy number in strabismus patients
Zehra, Zainab, Zia, Muhammad Amn, Siddiqui, Sorath Noorani, von Bartheld, Christopher S., Azam, Maleeha, Qamar, Raheel
Published in Journal of AAPOS (01.12.2024)
Published in Journal of AAPOS (01.12.2024)
Get full text
Journal Article
Loading…
Loading…
Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets
Warnica, William, Merico, Daniele, Costain, Gregory, Alfred, Simon E., Wei, John, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Published in Biological psychiatry (1969) (15.01.2015)
Published in Biological psychiatry (1969) (15.01.2015)
Get full text
Journal Article
Loading…
Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Holesova, Zuzana, Pös, Ondrej, Gazdarica, Juraj, Kucharik, Marcel, Budis, Jaroslav, Hyblova, Michaela, Minarik, Gabriel, Szemes, Tomas
Published in BMC genomics (15.04.2024)
Published in BMC genomics (15.04.2024)
Get full text
Journal Article
Loading…
Microdeletions of 3q29 Confer High Risk for Schizophrenia
Mulle, Jennifer Gladys, Dodd, Anne F., McGrath, John A., Wolyniec, Paula S., Mitchell, Adele A., Shetty, Amol C., Sobreira, Nara L., Valle, David, Rudd, M. Katharine, Satten, Glen, Cutler, David J., Pulver, Ann E., Warren, Stephen T.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Loading…
An innovative CRISPR/Cas9 mouse model of human isolated microtia indicates the potential contribution of CNVs near HMX1 gene
Xing, Wenshan, Zhang, Jiao, Liu, Tun, Wang, Yue, Qian, Jin, Wang, Bingqing, Zhang, Yongbiao, Zhang, Qingguo
Published in International journal of pediatric otorhinolaryngology (01.12.2024)
Published in International journal of pediatric otorhinolaryngology (01.12.2024)
Get full text
Journal Article
Loading…
Associations of mitochondrial DNA copy number with incident risks of gastrointestinal cancers: A prospective case–cohort study
Guan, Xin, Li, Mengying, Bai, Yansen, Feng, Yue, Li, Guyanan, Wei, Wei, Fu, Ming, Li, Hang, Wang, Chenming, Jie, Jiali, Meng, Hua, Wu, Xiulong, Deng, Qilin, Li, Fangqing, Yang, Handong, Zhang, Xiaomin, He, Meian, Guo, Huan
Published in Molecular carcinogenesis (01.02.2023)
Published in Molecular carcinogenesis (01.02.2023)
Get full text
Journal Article
Loading…