Avoiding Pitfalls in Molecular Genetic Testing: Case Studies of High-Resolution Array Comparative Genomic Hybridization Testing in the Definitive Diagnosis of Mowat-Wilson Syndrome

gan Kluk, Michael Joseph, An, Yu, James, Philip, Coulter, David, Harris, David, Wu, Bai-Lin, Shen, Yiping
Cyhoeddwyd 2011

Autistic Children Exhibit Decreased Levels of Essential Fatty Acids in Red Blood Cells

gan Brigandi, Sarah A., Shao, Hong, Qian, Steven Y., Shen, Yiping, Wu, Bai-Lin, Kang, Jing X.
Cyhoeddwyd yn Int J Mol Sci (2015)

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

gan Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard
Cyhoeddwyd 2002

Extracellular Cl(−) regulates human SO(4)(2−)/anion exchanger SLC26A1 by altering pH-sensitivity of anion transport

gan Wu, Meng, Heneghan, John F., Vandorpe, David H., Escobar, Laura I., Wu, Bai-Lin, Alper, Seth L.
Cyhoeddwyd yn Pflugers Arch (2016)

Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss

gan Kenna, Margaret A., Feldman, Henry A., Neault, Marilyn W., Frangulov, Anna, Wu, Bai-Lin, Fligor, Brian, Rehm, Heidi L.
Cyhoeddwyd yn Arch Otolaryngol Head Neck Surg (2010)

Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs

gan Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.
Cyhoeddwyd 2013

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

gan Bennett, Richard R, Schneider, Hal E, Estrella, Elicia, Burgess, Stephanie, Cheng, Andrew S, Barrett, Caitlin, Lip, Va, Lai, Poh San, Shen, Yiping, Wu, Bai-Lin, Darras, Basil T, Beggs, Alan H, Kunkel, Louis M
Cyhoeddwyd 2009

High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

gan Gong, Xiaohong, Jiang, Yu-wu, Zhang, Xin, An, Yu, Zhang, Jun, Wu, Ye, Wang, Jingmin, Sun, Yangfei, Liu, Yanyan, Gao, Xuewu, Shen, Yiping, Wu, Xiru, Qiu, Zilong, Jin, Li, Wu, Bai-Lin, Wang, Hongyan
Cyhoeddwyd 2012

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

gan Chen, Xiaoli, Shen, Yiping, Gao, Yonghui, Zhao, Huizhi, Sheng, Xiaoming, Zou, Jizhen, Lip, Va, Xie, Hua, Guo, Jin, Shao, Hong, Bao, Yihua, Shen, Jianliang, Niu, Bo, Gusella, James F., Wu, Bai-Lin, Zhang, Ting
Cyhoeddwyd 2013

Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W

gan Reimold, Fabian R., Balasubramanian, Savithri, Doroquez, David B., Shmukler, Boris E., Zsengeller, Zsuzsanna K., Saslowsky, David, Thiagarajah, Jay R., Stillman, Isaac E., Lencer, Wayne I., Wu, Bai-Lin, Villalpando-Carrion, Salvador, Alper, Seth L.
Cyhoeddwyd yn Front Physiol (2015)

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation: A Multicenter Experience of 1499 Clinical Cases

gan Xiang, Bixia, Zhu, Hongbo, Shen, Yiping, Miller, David T., Lu, Kangmo, Hu, Xiaofeng, Andersson, Hans C., Narumanchi, Tarachandra M., Wang, Yueying, Martinez, Jose E., Wu, Bai-Lin, Li, Peining, Li, Marilyn M., Chen, Tian-Jian, Fan, Yao-Shan
Cyhoeddwyd 2010

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions

gan Dauber, Andrew, Yu, Yongguo, Turchin, Michael C., Chiang, Charleston W., Meng, Yan A., Demerath, Ellen W., Patel, Sanjay R., Rich, Stephen S., Rotter, Jerome I., Schreiner, Pamela J., Wilson, James G., Shen, Yiping, Wu, Bai-Lin, Hirschhorn, Joel N.
Cyhoeddwyd 2011

Rare deleterious PARD3 variants in the aPKC-binding region are implicated in the pathogenesis of human cranial neural tube defects via disrupting apical tight junction formation

gan Chen, Xiaoli, An, Yu, Gao, Yonghui, Guo, Liu, Rui, Lei, Xie, Hua, Sun, Mei, Hung, Siv Lam, Sheng, Xiaoming, Zou, Jizhen, Bao, Yihua, Guan, Hongyan, Niu, Bo, Li, Zandong, Finnell, Richard H., Gusella, James F., Wu, Bai-Lin, Zhang, Ting
Cyhoeddwyd yn Hum Mutat (2017)

Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

gan Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Elhosary, P. Christina, Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Sci, Dr Med, Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Med, M, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
Cyhoeddwyd 2012

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

gan Miller, David T., Shen, Yiping, Weiss, Lauren A., Korn, Joshua, Anselm, Irina, Bridgemohan, Carolyn, Cox, Gerald F., Dickinson, Hope, Gentile, Jennifer, Harris, David J., Hegde, Vijay, Hundley, Rachel, Khwaja, Omar, Kothare, Sanjeev, Luedke, Christina, Nasir, Ramzi, Poduri, Annapurna, Prasad, Kiran, Raffalli, Peter, Reinhard, Ann, Smith, Sharon E., Sobeih, Magdi M., Soul, Janet S., Stoler, Joan, Takeoka, Masanori, Tan, Wen-Hann, Thakuria, Joseph, Wolff, Robert, Yusupov, Roman, Gusella, James F., Daly, Mark J., Wu, Bai-Lin
Cyhoeddwyd 2008

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

gan Dai, Pu, Yu, Fei, Han, Bing, Liu, Xuezhong, Wang, Guojian, Li, Qi, Yuan, Yongyi, Liu, Xin, Huang, Deliang, Kang, Dongyang, Zhang, Xin, Yuan, Huijun, Yao, Kun, Hao, Jinsheng, He, Jia, He, Yong, Wang, Youqin, Ye, Qing, Yu, Youjun, Lin, Hongyan, Liu, Lijia, Deng, Wei, Zhu, Xiuhui, You, Yiwen, Cui, Jinghong, Hou, Nongsheng, Xu, Xuehai, Zhang, Jin, Tang, Liang, Song, Rendong, Lin, Yongjun, Sun, Shuanzhu, Zhang, Ruining, Wu, Hao, Ma, Yuebing, Zhu, Shanxiang, Wu, Bai-lin, Han, Dongyi, Wong, Lee-Jun C
Cyhoeddwyd 2009

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries

gan Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David, Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Cyhoeddwyd 2012

Somatic Mutations in Cerebral Cortical Malformations

gan Jamuar, Saumya S., Lam, Anh-Thu N., Kircher, Martin, D'Gama, Alissa M., Wang, Jian, Barry, Brenda J., Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N., Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K., Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E., Berkovic, Samuel F., Leventer, Richard J., Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay, Poduri, Annapurna, Yu, Timothy W., Walsh, Christopher A.
Cyhoeddwyd yn N Engl J Med (2014)

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

gan Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin
Cyhoeddwyd 2010

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

gan Shen, Yiping, Dies, Kira A., Holm, Ingrid A., Bridgemohan, Carolyn, Sobeih, Magdi M., Caronna, Elizabeth B., Miller, Karen J., Frazier, Jean A., Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A., Peters, Heather K., Brewster, Stephanie J., Kowalczyk, Sara J., Rosen-Sheidley, Beth, McGowan, Caroline, Duda, Andrew W., Lincoln, Sharyn A., Lowe, Kathryn R., Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K., Milunsky, Jeff M., Rappaport, Leonard, Gusella, James F., Walsh, Christopher A., Wu, Bai-Lin, Miller, David T.
Cyhoeddwyd yn Pediatrics (2010)