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Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
Anazi, S, Maddirevula, S, Faqeih, E, Alsedairy, H, Alzahrani, F, Shamseldin, H E, Patel, N, Hashem, M, Ibrahim, N, Abdulwahab, F, Ewida, N, Alsaif, H S, Al sharif, H, Alamoudi, W, Kentab, A, Bashiri, F A, Alnaser, M, AlWadei, A H, Alfadhel, M, Eyaid, W, Hashem, A, Al Asmari, A, Saleh, M M, AlSaman, A, Alhasan, K A, Alsughayir, M, Al Shammari, M, Mahmoud, A, Al-Hassnan, Z N, Al-Husain, M, Osama Khalil, R, Abd El.Meguid, N, Masri, A, Ali, R, Ben-Omran, T, El.Fishway, P, Hashish, A, Ercan Sencicek, A, State, M, Alazami, A M, Salih, M A, Altassan, N, Arold, S T, Abouelhoda, M, Wakil, S M, Monies, D, Shaheen, R, Alkuraya, F S
Published in Molecular psychiatry (01.04.2017)
Published in Molecular psychiatry (01.04.2017)
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Predicting human genes susceptible to genomic instability associated with Alu / Alu -mediated rearrangements
Song, Xiaofei, Beck, Christine R., Du, Renqian, Campbell, Ian M., Coban-Akdemir, Zeynep, Gu, Shen, Breman, Amy M., Stankiewicz, Pawel, Ira, Grzegorz, Shaw, Chad A., Lupski, James R.
Published in Genome research (01.08.2018)
Published in Genome research (01.08.2018)
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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Yamoto, Kaori, Saitsu, Hirotomo, Nishimura, Gen, Kosaki, Rika, Takayama, Shinichiro, Haga, Nobuhiko, Tonoki, Hidefumi, Okumura, Akihisa, Horii, Emiko, Okamoto, Nobuhiko, Suzumura, Hiroshi, Ikegawa, Shiro, Kato, Fumiko, Fujisawa, Yasuko, Nagata, Eiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu
Published in European journal of human genetics : EJHG (01.12.2019)
Published in European journal of human genetics : EJHG (01.12.2019)
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Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors
Jiang, Wei, Johnson, Chris, Jayaraman, Jyothi, Simecek, Nikol, Noble, Janelle, Moffatt, Miriam F., Cookson, William O., Trowsdale, John, Traherne, James A.
Published in Genome research (01.10.2012)
Published in Genome research (01.10.2012)
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Detectable clonal mosaicism from birth to old age and its relationship to cancer
Laurie, Cathy C, Laurie, Cecelia A, Rice, Kenneth, Doheny, Kimberly F, Zelnick, Leila R, McHugh, Caitlin P, Ling, Hua, Hetrick, Kurt N, Pugh, Elizabeth W, Amos, Chris, Wei, Qingyi, Wang, Li-e, Lee, Jeffrey E, Barnes, Kathleen C, Hansel, Nadia N, Mathias, Rasika, Daley, Denise, Beaty, Terri H, Scott, Alan F, Ruczinski, Ingo, Scharpf, Rob B, Bierut, Laura J, Hartz, Sarah M, Landi, Maria Teresa, Freedman, Neal D, Goldin, Lynn R, Ginsburg, David, Li, Jun, Desch, Karl C, Strom, Sara S, Blot, William J, Signorello, Lisa B, Ingles, Sue A, Chanock, Stephen J, Berndt, Sonja I, Le Marchand, Loic, Henderson, Brian E, Monroe, Kristine R, Heit, John A, de Andrade, Mariza, Armasu, Sebastian M, Regnier, Cynthia, Lowe, William L, Hayes, M Geoffrey, Marazita, Mary L, Feingold, Eleanor, Murray, Jeffrey C, Melbye, Mads, Feenstra, Bjarke, Kang, Jae H, Wiggs, Janey L, Jarvik, Gail P, McDavid, Andrew N, Seshan, Venkatraman E, Mirel, Daniel B, Crenshaw, Andrew, Sharopova, Nataliya, Wise, Anastasia, Shen, Jess, Crosslin, David R, Levine, David M, Zheng, Xiuwen, Udren, Jenna I, Bennett, Siiri, Nelson, Sarah C, Gogarten, Stephanie M, Conomos, Matthew P, Heagerty, Patrick, Manolio, Teri, Pasquale, Louis R, Haiman, Christopher A, Caporaso, Neil, Weir, Bruce S
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Schaaf, Christian P, Gonzalez-Garay, Manuel L, Xia, Fan, Potocki, Lorraine, Gripp, Karen W, Zhang, Baili, Peters, Brock A, McElwain, Mark A, Drmanac, Radoje, Beaudet, Arthur L, Caskey, C Thomas, Yang, Yaping
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications
Levinson, Douglas F., Duan, Jubao, Oh, Sang, Wang, Kai, Sanders, Alan R., Shi, Jianxin, Zhang, Nancy, Mowry, Bryan J., Olincy, Ann, Amin, Farooq, Cloninger, C. Robert, Silverman, Jeremy M., Buccola, Nancy G., Byerley, William F., Black, Donald W., Kendler, Kenneth S., Freedman, Robert, Dudbridge, Frank, Pe'er, Itsik, Hakonarson, Hakon, Bergen, Sarah E., Fanous, Ayman H., Holmans, Peter A., Gejman, Pablo V.
Published in The American journal of psychiatry (01.03.2011)
Published in The American journal of psychiatry (01.03.2011)
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Accelerated epigenetic aging and mitochondrial DNA copy number in bipolar disorder
Fries, Gabriel R., Bauer, Isabelle E., Scaini, Giselli, Wu, Mon-Ju, Kazimi, Iram F., Valvassori, Samira S., Zunta-Soares, Giovana, Walss-Bass, Consuelo, Soares, Jair C., Quevedo, Joao
Published in Translational psychiatry (11.12.2017)
Published in Translational psychiatry (11.12.2017)
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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A
Published in Human reproduction (Oxford) (01.01.2020)
Published in Human reproduction (Oxford) (01.01.2020)
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Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort
Mei, Hongfang, Yang, Lin, Xiao, Tiantian, Wang, Sujuan, Wu, Bingbing, Wang, Huijun, Lu, Yulan, Dong, Xinran, Yang, Hong, Zhou, Wenhao
Published in The Journal of pediatrics (01.03.2022)
Published in The Journal of pediatrics (01.03.2022)
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
Kirov, G, Pocklington, A J, Holmans, P, Ivanov, D, Ikeda, M, Ruderfer, D, Moran, J, Chambert, K, Toncheva, D, Georgieva, L, Grozeva, D, Fjodorova, M, Wollerton, R, Rees, E, Nikolov, I, van de Lagemaat, L N, Bayés, À, Fernandez, E, Olason, P I, Böttcher, Y, Komiyama, N H, Collins, M O, Choudhary, J, Stefansson, K, Stefansson, H, Grant, S G N, Purcell, S, Sklar, P, O'Donovan, M C, Owen, M J
Published in Molecular psychiatry (01.02.2012)
Published in Molecular psychiatry (01.02.2012)
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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W. C, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Clodagh, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, Marshall, Christian R
Published in American Journal of Psychiatry (01.11.2017)
Published in American Journal of Psychiatry (01.11.2017)
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Global epigenetic profiling identifies methylation subgroups associated with recurrence-free survival in meningioma
Olar, Adriana, Wani, Khalida M., Wilson, Charmaine D., Zadeh, Gelareh, DeMonte, Franco, Jones, David T. W., Pfister, Stefan M., Sulman, Erik P., Aldape, Kenneth D.
Published in Acta neuropathologica (01.03.2017)
Published in Acta neuropathologica (01.03.2017)
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
Al-Mousa, Hamoud, Abouelhoda, Mohamed, Monies, Dorota M., Al-Tassan, Nada, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Al-Muhsen, Saleh, Ades, Nazema, Elshorbagi, Sahar, Al Gazlan, Sulaiman, Sheikh, Farrukh, Dasouki, Majed, El-Baik, Lina, Elamin, Tanzeil, Jaber, Amal, Kheir, Omnia, El-Kalioby, Mohamed, Subhani, Shazia, Al Idrissi, Eman, Al-Zahrani, Mofareh, Alhelale, Maryam, Alnader, Noukha, Al-Otaibi, Afaf, Kattan, Rana, Al Abdelrahman, Khalid, Al Breacan, Muna M., Bin Humaid, Faisal S., Wakil, Salma Majid, Alzayer, Fadi, Al-Dusery, Haya, Faquih, Tariq, Al-Hissi, Safa, Meyer, Brian F., Hawwari, Abbas
Published in Journal of allergy and clinical immunology (01.06.2016)
Published in Journal of allergy and clinical immunology (01.06.2016)
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Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
Dong, Zirui, Zhang, Jun, Hu, Ping, Chen, Haixiao, Xu, Jinjin, Tian, Qi, Meng, Lu, Ye, Yanchou, Wang, Jun, Zhang, Meiyan, Li, Yun, Wang, Huilin, Yu, Shanshan, Chen, Fang, Xie, Jiansheng, Jiang, Hui, Wang, Wei, Choy, Kwong Wai, Xu, Zhengfeng
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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