Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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
Published in The New England journal of medicine (05.01.2017)
Published in The New England journal of medicine (05.01.2017)
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
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
Published in Genome medicine (28.09.2018)
Published in Genome medicine (28.09.2018)
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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
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
Published in Molecular cell (17.09.2015)
Published in Molecular cell (17.09.2015)
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
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
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
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
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
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
Published in Genome medicine (26.07.2019)
Published in Genome medicine (26.07.2019)
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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
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.
Published in American journal of human genetics (01.04.2007)
Published in American journal of human genetics (01.04.2007)
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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
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
Published in Molecular psychiatry (01.05.2021)
Published in Molecular psychiatry (01.05.2021)
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
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.
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Mechanisms for Complex Chromosomal Insertions
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
Published in PLoS genetics (23.11.2016)
Published in PLoS genetics (23.11.2016)
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Increased LIS1 expression affects human and mouse brain development
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
Published in Nature Genetics (01.02.2009)
Published in Nature Genetics (01.02.2009)
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
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
Published in Genome medicine (03.04.2024)
Published in Genome medicine (03.04.2024)
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
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.
Published in Prenatal diagnosis (01.01.2009)
Published in Prenatal diagnosis (01.01.2009)
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Conference Proceeding
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
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
Published in Genome medicine (27.10.2022)
Published in Genome medicine (27.10.2022)
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases
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
Published in European journal of human genetics : EJHG (01.08.2014)
Published in European journal of human genetics : EJHG (01.08.2014)
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
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
Published in Genome medicine (30.09.2022)
Published in Genome medicine (30.09.2022)
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Sox9 is required for cartilage formation
Behringer, Richard R, de Crombrugghe, Benoit, Bi, Weimin, Deng, Jian Min, Zhang, Zhaoping
Published in Nature genetics (01.05.1999)
Published in Nature genetics (01.05.1999)
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P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
Kin Chau, Matthew Hoi, Anderson, Stephanie, Song, Rodger, Cooper, Lance, Ward, Patricia, Yuan, Bo, Stankiewicz, Pawel, Cheung, Sau, Vossaert, Liesbeth, Wang, Yue, Owen, Nichole, Smith, Janice, Bacino, Carlos, Schulze, Katharina, Bi, Weimin
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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