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Single Nucleotide Polymorphism Array (SNP-A) Genomic Profiling of Mantle Cell Lymphoma (MCL) Against a Large Control Database Reveals Recurring Copy Number Alterations (CNAs) and Copy Neutral Loss of Heterozygosity (CN-LOH)
Rauh, Michael J., Bodo, Juraj, Hsi, Eric, Richendollar, Bill, Sugimoto, Yuka, Maciejewski, Jaroslaw P, O'Keefe, Christine L., Smith, Stephen D.
Published in Blood (19.11.2010)
Published in Blood (19.11.2010)
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
Xie, Xiaorui, Huang, Baojia, Su, Linjuan, Cai, Meiying, Chen, Yuqin, Wu, Xiaoqing, Xu, Liangpu
Published in BMC medical genomics (20.11.2023)
Published in BMC medical genomics (20.11.2023)
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Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
Wu, Xiaoqing, He, Shuqiong, Li, Ying, Guo, Danhua, Chen, Xuemei, Liang, Bin, Wang, Meiying, Huang, Hailong, Xu, Liangpu
Published in BMC pregnancy and childbirth (26.01.2023)
Published in BMC pregnancy and childbirth (26.01.2023)
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly
Gonzaga-Jauregui, Claudia, Lotze, Timothy, Jamal, Leila, Penney, Samantha, Campbell, Ian M, Pehlivan, Davut, Hunter, Jill V, Woodbury, Suzanne L, Raymond, Gerald, Adesina, Adekunle M, Jhangiani, Shalini N, Reid, Jeffrey G, Muzny, Donna M, Boerwinkle, Eric, Lupski, James R, Gibbs, Richard A, Wiszniewski, Wojciech
Published in JAMA neurology (01.12.2013)
Published in JAMA neurology (01.12.2013)
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HLA class I alleles are associated with clinic-based migraine and increased risks of chronic migraine and medication overuse
Huang, Claire, Chen, Shih-Pin, Huang, Yu-Han, Chen, Hsuan-Yu, Wang, Yen-Feng, Lee, Mei-Hsuan, Wang, Shuu-Jiun
Published in Cephalalgia (01.04.2020)
Published in Cephalalgia (01.04.2020)
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A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes
Kerns, Sarah L., Guevara-Aguirre, Jaime, Andrew, Shayne, Geng, Juan, Guevara, Carolina, Guevara-Aguirre, Marco, Guo, Michael, Oddoux, Carole, Shen, Yiping, Zurita, Andres, Rosenfeld, Ron G., Ostrer, Harry, Hwa, Vivian, Dauber, Andrew
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Subchromosomal anomalies in small for gestational-age fetuses and newborns
Ma, Ying, Pei, Yan, Yin, Chenghong, Jiang, Yuxin, Wang, Jingjing, Li, Xiaofei, Li, Lin, Kagan, Karl Oliver, Wu, Qingqing
Published in Archives of gynecology and obstetrics (01.09.2019)
Published in Archives of gynecology and obstetrics (01.09.2019)
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X Chromosome Dose and Sex Bias in Autoimmune Diseases
Liu, Ke, Kurien, Biji T., Zimmerman, Sarah L., Kaufman, Kenneth M., Taft, Diana H., Kottyan, Leah C., Lazaro, Sara, Weaver, Carrie A., Ice, John A., Adler, Adam J., Chodosh, James, Radfar, Lida, Rasmussen, Astrid, Stone, Donald U., Lewis, David M., Li, Shibo, Koelsch, Kristi A., Igoe, Ann, Talsania, Mitali, Kumar, Jay, Maier-Moore, Jacen S., Harris, Valerie M., Gopalakrishnan, Rajaram, Jonsson, Roland, Lessard, James A., Lu, Xianglan, -Eric Gottenberg, Jacques, -Manuel Anaya, Juan, Cunninghame-Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Mei, Gabor G., Miceli-Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Ng, Wan-Fai, Nordmark, Gunnel, Eriksson, Per, Omda, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Sega, Barbara M., Vvse, Timothy J., Wahren-Herlenius, Marie, Witte, Torsten, Pons-Este, Bernardo, Alarcon-Riquelme, Marta E., Guthridge, Joel M., James, Judith A., Lessard, Christopher J., Kelly, Jennifer A., Thompson, Susan D., Gaffney, Patrick M., Montgomery, Courtney G., Edberg, Jeffrey C., Kimberly, Robert P., Alarcon, Gracicla S., Langefeld, Carl L., Gilkeson, Gary S., Kamen, Diane L., Tsao, Betty P., Joseph McCune, W., Salmon, Jane E., Merrill, Joan T., Weisman, Michael H., Wallace, Daniel J., Utset, Tammy, Bottinger, Erwin P., Amos, Christopher I., Siminovitch, Katherine A., Mariette, Xavier, Sivils, Kathy L., Harley, John B., Hal Scofield, R.
Published in Arthritis & rheumatology (Hoboken, N.J.) (2016)
Published in Arthritis & rheumatology (Hoboken, N.J.) (2016)
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Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array
Kim, H.-J., Kim, D.-K., Yoo, K.-Y., You, C.-W., Yoo, J.-H., Lee, K.-O., Park, I.-A., Choung, H.-S., Song, M.-J., Kim, S.-H.
Published in Haematologica (Roma) (01.02.2012)
Published in Haematologica (Roma) (01.02.2012)
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Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders
Hoeffding, Louise K., Duong, Linh T.T., Ingason, Andrés, Rosengren, Anders, Sorbanski, Ester, Witt, Stephanie H., Djurovic, Srdjan, Andreassen, Ole A., Hansen, Thomas, Werge, Thomas, Rasmussen, Henrik B.
Published in Nordic journal of psychiatry (18.05.2016)
Published in Nordic journal of psychiatry (18.05.2016)
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Abstract 3332: Clonal nuclear and mitochondrial genetic alterations in smoker lung cancer patients and their histologically normal appearing follow-up biopsies
Philley, Julie V., Johnston, Kayla, Banerjee, Hirendra N., Griffith, David E., Dasgupta, Santanu
Published in Cancer research (Chicago, Ill.) (01.07.2019)
Published in Cancer research (Chicago, Ill.) (01.07.2019)
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Identification of Novel Recurrent Copy Number Variations and Regions of Copy-Neutral Loss of Heterozygosity by High Resolution Genomic Array in Pre-Treatment and Relapsed B-CLL
Knight, Samantha JL, Sadighi Akha, Elham, Timbs, Adele, Enver, Tariq, Pettitt, Andrew R, Taylor, Jenny, Hatton, Chris S, Schuh, Anna
Published in Blood (20.11.2009)
Published in Blood (20.11.2009)
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Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly
Gonzaga-Jauregui, Claudia, Lotze, Timothy, Jamal, Leila, Penney, Samantha, Campbell, Ian M, Pehlivan, Davut, Hunter, Jill V, W oodbury, Suzanne L, Raymond, Gerald, Adesina, Adekunle M, Jhangiani, Shalini N, Reid, Jeffrey G, Muzny, Donna M, Boerwinkle, Eric, Lupski, James R, Gibbs, Richard A, Wiszniewski, Wojciech
Published in Archives of neurology (Chicago) (01.12.2013)
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Published in Archives of neurology (Chicago) (01.12.2013)
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Somatic mutations affect key pathways in lung adenocarcinoma
Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, Sougnez, Carrie, Greulich, Heidi, Muzny, Donna M., Morgan, Margaret B., Fulton, Lucinda, Fulton, Robert S., Zhang, Qunyuan, Wendl, Michael C., Lawrence, Michael S., Larson, David E., Chen, Ken, Dooling, David J., Sabo, Aniko, Hawes, Alicia C., Shen, Hua, Jhangiani, Shalini N., Lewis, Lora R., Hall, Otis, Zhu, Yiming, Mathew, Tittu, Ren, Yanru, Yao, Jiqiang, Scherer, Steven E., Clerc, Kerstin, Metcalf, Ginger A., Ng, Brian, Milosavljevic, Aleksandar, Gonzalez-Garay, Manuel L., Osborne, John R., Meyer, Rick, Shi, Xiaoqi, Tang, Yuzhu, Koboldt, Daniel C., Lin, Ling, Abbott, Rachel, Miner, Tracie L., Pohl, Craig, Fewell, Ginger, Haipek, Carrie, Schmidt, Heather, Dunford-Shore, Brian H., Kraja, Aldi, Crosby, Seth D., Sawyer, Christopher S., Vickery, Tammi, Sander, Sacha, Robinson, Jody, Winckler, Wendy, Baldwin, Jennifer, Chirieac, Lucian R., Dutt, Amit, Fennell, Tim, Hanna, Megan, Johnson, Bruce E., Onofrio, Robert C., Thomas, Roman K., Tonon, Giovanni, Weir, Barbara A., Zhao, Xiaojun, Ziaugra, Liuda, Zody, Michael C., Giordano, Thomas, Orringer, Mark B., Roth, Jack A., Spitz, Margaret R., Wistuba, Ignacio I., Ozenberger, Bradley, Good, Peter J., Chang, Andrew C., Beer, David G., Watson, Mark A., Ladanyi, Marc, Broderick, Stephen, Yoshizawa, Akihiko, Travis, William D., Pao, William, Province, Michael A., Weinstock, George M., Varmus, Harold E., Gabriel, Stacey B., Lander, Eric S., Gibbs, Richard A., Meyerson, Matthew, Wilson, Richard K.
Published in Nature (23.10.2008)
Published in Nature (23.10.2008)
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Higher chromosomal aberration rate in miscarried conceptus from polycystic ovary syndrome women undergoing assisted reproductive treatment
Li, Ying, Wang, Linlin, Xu, Jiawei, Niu, Wenbin, Shi, Hao, Hu, Linli, Zhang, Yile, Zhang, Meixiang, Bao, Xiao, Zhang, Nan, Sun, Yingpu
Published in Fertility and sterility (01.05.2019)
Published in Fertility and sterility (01.05.2019)
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Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
Rouen, Alexandre, Rogers, Eli, Kerlan, Véronique, Delemer, Brigitte, Catteau-Jonard, Sophie, Reznik, Yves, Gompel, Anne, Cedrin, Isabelle, Guedj, Anne-Marie, Grouthier, Virginie, Brue, Thierry, Pienkowski, Catherine, Bachelot, Anne, Chantot-Bastaraud, Sandra, Rousseau, Alexandra, Simon, Tabassome, Kott, Esther, Siffroi, Jean-Pierre, Touraine, Philippe, Christin-Maitre, Sophie
Published in Fertility and sterility (01.04.2022)
Published in Fertility and sterility (01.04.2022)
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger
Published in Human genetics (01.08.2021)
Published in Human genetics (01.08.2021)
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Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report
Amélie, Buisine‐Sbraggia, Julien, Thevenon, Kevin, Yauy, Marie‐Emmanuelle, Naud, Jean‐Marc, Costa, Fanny, Dubois‐Teklali, Marjolaine, Willems, Klaus, Dieterich, Véronique, Satre, Charles, Coutton, Tanno, Pauline Le
Published in American journal of medical genetics. Part A (01.03.2025)
Published in American journal of medical genetics. Part A (01.03.2025)
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Genetic architecture of asthma in African American patients
Chang, Xiao, March, Michael, Mentch, Frank, Qu, Huiqi, Liu, Yichuan, Glessner, Joseph, Sleiman, Patrick, Hakonarson, Hakon
Published in Journal of allergy and clinical immunology (01.04.2023)
Published in Journal of allergy and clinical immunology (01.04.2023)
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