Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation von Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder von Normand, Elizabeth A, Braxton, Alicia, Nassef, Salma, Ward, Patricia A, Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E, Stover, Samantha, Dharmadhikari, Avinash V, Muzny, Donna M, Gibbs, Richard A, Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B, Eng, Christine M, Yang, Yaping

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels von Yuan, Bo, Wang, Lei, Liu, Pengfei, Shaw, Chad, Dai, Hongzheng, Cooper, Lance, Zhu, Wenmiao, Anderson, Stephanie A., Meng, Linyan, Wang, Xia, Wang, Yue, Xia, Fan, Xiao, Rui, Braxton, Alicia, Peacock, Sandra, Schmitt, Eric, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Chiang, Theodore, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice, Cheung, Sau Wai, Bacino, Carlos A., Eng, Christine M., Yang, Yaping, Lupski, James R., Bi, Weimin

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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder von Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing von Cao, Ye, Tokita, Mari J, Chen, Edward S, Ghosh, Rajarshi, Chen, Tiansheng, Feng, Yanming, Gorman, Elizabeth, Gibellini, Federica, Ward, Patricia A, Braxton, Alicia, Wang, Xia, Meng, Linyan, Xiao, Rui, Bi, Weimin, Xia, Fan, Eng, Christine M, Yang, Yaping, Gambin, Tomasz, Shaw, Chad, Liu, Pengfei, Stankiewicz, Pawel

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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 von Gu, Shen, Yuan, Bo, Campbell, Ian M, Beck, Christine R, Carvalho, Claudia M B, Nagamani, Sandesh C S, Erez, Ayelet, Patel, Ankita, Bacino, Carlos A, Shaw, Chad A, Stankiewicz, Paweł, Cheung, Sau Wai, Bi, Weimin, Lupski, James R

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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype von Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M.B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.

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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes von Brownstein, Catherine A., Smith, Richard S., Rodan, Lance H., Gorman, Mark P., Hojlo, Margaret A., Garvey, Emily A., Li, Jianqiao, Cabral, Kristin, Bowen, Joshua J., Rao, Abhijit S., Genetti, Casie A., Carroll, Devon, Deaso, Emma A., Agrawal, Pankaj B., Rosenfeld, Jill A., Bi, Weimin, Howe, Jennifer, Stavropoulos, Dimitri J., Hansen, Adam W., Hamoda, Hesham M., Pinard, Ferne, Caracansi, Annmarie, Walsh, Christopher A., D’Angelo, Eugene J., Beggs, Alan H., Zarrei, Mehdi, Gibbs, Richard A., Scherer, Stephen W., Glahn, David C., Gonzalez-Heydrich, Joseph

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder von Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Bi, Weimin, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.

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Mechanisms for Complex Chromosomal Insertions von Gu, Shen, Szafranski, Przemyslaw, Akdemir, Zeynep Coban, Yuan, Bo, Cooper, Mitchell L, Magriñá, Maria A, Bacino, Carlos A, Lalani, Seema R, Breman, Amy M, Smith, Janice L, Patel, Ankita, Song, Rodger H, Bi, Weimin, Cheung, Sau Wai, Carvalho, Claudia M B, Stankiewicz, Paweł, Lupski, James R

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Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells von Normand, Elizabeth, Qdaisat, Sadeem, Bi, Weimin, Shaw, Chad, Van den Veyver, Ignatia, Beaudet, Arthur, Breman, Amy

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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy von Dardas, Zain, Fatih, Jawid M, Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M, Jones, Edward G, Jhangiani, Shalini N, Wehrens, Xander H T, Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Coban-Akdemir, Zeynep, Morris, Shaine A

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P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome von Bradley, Catherine, Streff, Haley, Bi, Weimin, Smith, Janice, Rosenfeld, Jill, Marom, Ronit

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Increased LIS1 expression affects human and mouse brain development von Lu, Xin-Yan, Horner, Michele, Day-Salvatore, Debra-Lynn, Sahoo, Trilochan, Withers, Marjorie A, Cheung, Sau Wai, Gunderson, Kevin L, Hunter, Jill V, Sapir, Tamar, Peiffer, Daniel A, Yanagawa, Yuchio, Reiner, Orly, Shchelochkov, Oleg A, Levy, Talia, Lupski, James R, Nezarati, Marjan M, Martinez, Salvador, Savage, Sarah K, Shinder, Vera, Harris, David J, Ann Shotts, Vern, Bi, Weimin, Amato, Stephen S, Beaudet, Arthur L, Zhang, Feng

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Sox9 is required for cartilage formation von Behringer, Richard R, de Crombrugghe, Benoit, Bi, Weimin, Deng, Jian Min, Zhang, Zhaoping

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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits von Yuan, Bo, Schulze, Katharina V, Assia Batzir, Nurit, Sinson, Jefferson, Dai, Hongzheng, Zhu, Wenmiao, Bocanegra, Francia, Fong, Chin-To, Holder, Jimmy, Nguyen, Joanne, Schaaf, Christian P, Yang, Yaping, Bi, Weimin, Eng, Christine, Shaw, Chad, Lupski, James R, Liu, Pengfei

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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases von Van den Veyver, Ignatia B., Patel, Ankita, Shaw, Chad A., Pursley, Amber N., Kang, Sung-Hae L., Simovich, Marcia J., Ward, Patricia A., Darilek, Sandra, Johnson, Anthony, Neill, Sarah E., Bi, Weimin, White, Lisa D., Eng, Christine M., Lupski, James R., Cheung, Sau Wai, Beaudet, Arthur L.

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation von Du, Haowei, Jolly, Angad, Grochowski, Christopher M, Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E, Witzl, Karin, Posey, Jennifer E, Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P J, Bi, Weimin, Gibbs, Richard A, Sedlazeck, Fritz J, Lupski, James R, Carvalho, Claudia M B, Liu, Pengfei

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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases von Pham, Justin, Shaw, Chad, Pursley, Amber, Hixson, Patricia, Sampath, Srirangan, Roney, Erin, Gambin, Tomasz, Kang, Sung-Hae L, Bi, Weimin, Lalani, Seema, Bacino, Carlos, Lupski, James R, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau-Wai

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Haploinsufficiency of Sox9 Results in Defective Cartilage Primordia and Premature Skeletal Mineralization von Bi, Weimin, Huang, Wendong, Whitworth, Deanne J., Deng, Jian Min, Zhang, Zhaoping, Behringer, Richard R., de Crombrugghe, Benoit

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