Search Results - "Withers, Marjorie A."

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements by Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin

“…Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome…”
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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles by Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.

“…Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and…”
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Increased LIS1 expression affects human and mouse brain development by 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

“…James Lupski, Orly Reiner and colleagues report seven individuals with submicroscopic copy number gains in the 17p13.3 region, supported by additional studies…”
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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates by Yuan, Bo, Liu, Pengfei, Gupta, Aditya, Beck, Christine R, Tejomurtula, Anusha, Campbell, Ian M, Gambin, Tomasz, Simmons, Alexandra D, Withers, Marjorie A, Harris, R Alan, Rogers, Jeffrey, Schwartz, David C, Lupski, James R

“…Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic…”
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Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome by Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A, Lupski, James R, O'Driscoll, Mark

“…A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number…”
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Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome by Sun, Zhe, Liu, Pengfei, Jia, Xueyuan, Withers, Marjorie A, Jin, Li, Lupski, James R, Zhang, Feng

“…Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur…”
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Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 by Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.

“…Smith-Magenis syndrome (SMS) is caused by an ∼4-Mb heterozygous interstitial deletion on chromosome 17p11.2 in ∼80%–90% of affected patients. Three large (∼200…”
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion by Park, Sung-Sup, Anyane-Yeboa, Kwame, Chen, Ken-Shiung, Kimonis, Virginia, Meschino, Wendy S, Summers, Anne M, Osterholm, Doreen E, Withers, Marjorie A, Potocki, Lorraine, Kashork, Catherine D, Shaffer, Lisa G, Lupski, James R

“…Recombination between repeated sequences at various loci of the human genome are known to give rise to DNA rearrangements associated with many genetic…”
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking by Duan, Ruizhi, Marafi, Dana, Xia, Zhi-Jie, Ng, Bobby G, Maroofian, Reza, Sumya, Farhana Taher, Saad, Ahmed K, Du, Haowei, Fatih, Jawid M, Hunter, Jill V, Elbendary, Hasnaa M, Baig, Shahid M, Abdullah, Uzma, Ali, Zafar, Efthymiou, Stephanie, Murphy, David, Mitani, Tadahiro, Withers, Marjorie A, Jhangiani, Shalini N, Coban-Akdemir, Zeynep, Calame, Daniel G, Pehlivan, Davut, Gibbs, Richard A, Posey, Jennifer E, Houlden, Henry, Lupashin, Vladimir V, Zaki, Maha S, Freeze, Hudson H, Lupski, James R

“…Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders…”
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Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS by Zhang, Feng, Potocki, Lorraine, Sampson, Jacinda B., Liu, Pengfei, Sanchez-Valle, Amarilis, Robbins-Furman, Patricia, Navarro, Alicia Delicado, Wheeler, Patricia G., Spence, J. Edward, Brasington, Campbell K., Withers, Marjorie A., Lupski, James R.

“…Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS)…”
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Real-time detection of TDP1 activity using a fluorophore–quencher coupled DNA-biosensor by Jensen, Pia W., Falconi, Mattia, Kristoffersen, Emil L., Simonsen, Anita T., Cifuentes, Jèssica B., Marcussen, Lærke B., Frøhlich, Rikke, Vagner, Josephine, Harmsen, Charlotte, Juul, Sissel, Ho, Yi-Ping, Withers, Marjorie A., Lupski, James R., Koch, Jørn, Desideri, Alessandro, Knudsen, Birgitta R., Stougaard, Magnus

“…Real-time detection of enzyme activities may present the easiest and most reliable way of obtaining quantitative analyses in biological samples. We present a…”
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy by Pehlivan, Davut, Beck, Christine R., Okamoto, Yuji, Harel, Tamar, Akdemir, Zeynep H.C., Jhangiani, Shalini N., Withers, Marjorie A., Goksungur, Meryem Tuba, Carvalho, Claudia M.B., Czesnik, Dirk, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna M., Gibbs, Richard A., Rautenstrauss, Bernd, Sereda, Michael W., Lupski, James R.

“…Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute…”
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Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates by Shaw, Christine J., Withers, Marjorie A., Lupski, James R.

“…Several homologous recombination “hotspots,” or sites of positional preference for strand exchanges, associated with recurrent deletions and duplications have…”
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Centers for Mendelian Genomics: A decade of facilitating gene discovery by Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Lek, Monkol, Jhangiani, Shalini N., Lifton, Richard P., Matise, Tara C., Lupski, James R., Valle, David, Nickerson, Deborah A., Akay, Gulsen, Antonescu, Corina, Austin-Tse, Christina A., Bacus, Tamara J., Bahrambeigi, Vahid, Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boone, Philip M., Calame, Daniel, Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Clarke, Declan, Delano, Kayla, Doddapaneni, Harshavardhan, Du, Renqian, Fatih, Jawid, Francioli, Laurent C., Fu, Jack, Gambin, Tomasz, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Gonzaga-Jauregui, Claudia, Grochowski, Christopher M., Gu, Shen, Hansen, Adam, Harmanci, Arif O., Huang, Yongqing, Johanson, Eric, Karaca, Ender, Kumar, Sushant, Laricchia, Kristen M., Ling, Hua, Lipson, Rachel B., MacMillan, Melissa P., Marshall, Jamie L., Martin, Renan, McGee, Sean, Mekonnen, Betselote, Mullen, Thomas E., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nielsen, Patrick M., Nudelman, Natalie, O’Leary, Melanie C., Pais, Lynn S., Patterson, Karynne, Pehlivan, Davut, Penney, Samantha, Pierce-Hoffman, Emma, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Sabo, Aniko, Scott, Daryl A., Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Snow, Hana, Solomonson, Matthew, Song, Xiaofei, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Valivullah, Zaheer, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Wilson, Michael W., Wiszniewski, Wojciech, Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wu, Nan, Yi, Qian, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Yeting, Zoghbi, Huda, van den Veyver, Igna, O’Donnell-Luria, Anne

“…Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing,…”
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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates: e1005686 by Yuan, Bo, Liu, Pengfei, Gupta, Aditya, Beck, Christine R, Tejomurtula, Anusha, Campbell, Ian M, Gambin, Tomasz, Simmons, Alexandra D, Withers, Marjorie A, Harris, R Alan, Rogers, Jeffrey, Schwartz, David C, Lupski, James R

“…Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic…”
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Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome: e1002247 by Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A, Lupski, James R

“…A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number…”
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Increased LIS1 expression affects human and mouse brain development: Making diversity count by WEIMIN BI, SAPIR, Tamar, NEZARATI, Marjan M, SHOTTS, Vern Ann, AMATO, Stephen S, SAVAGE, Sarah K, HARRIS, David J, DAY-SALVATORE, Debra-Lynn, HORNER, Michele, LU, Xin-Yan, SAHOO, Trilochan, YANAGAWA, Yuchio, SHCHELOCHKOV, Oleg A, BEAUDET, Arthur L, SAU WAI CHEUNG, MARTINEZ, Salvador, LUPSKI, James R, REINER, Orly, FENG ZHANG, WITHERS, Marjorie A, HUNTER, Jill V, LEVY, Talia, SHINDER, Vera, PEIFFER, Daniel A, GUNDERSON, Kevin L

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