Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
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
Published in Cell (16.09.2011)
Published in Cell (16.09.2011)
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The genetic basis of DOORS syndrome: an exome-sequencing study
Campeau, Philippe M, MD, Kasperaviciute, Dalia, PhD, Lu, James T, PhD, Burrage, Lindsay C, PhD, Kim, Choel, PhD, Hori, Mutsuki, MD, Powell, Berkley R, MD, Stewart, Fiona, MBBS, Félix, Têmis Maria, PhD, van den Ende, Jenneke, MD, Wisniewska, Marzena, PhD, Kayserili, Hülya, MD, Rump, Patrick, PhD, Nampoothiri, Sheela, MSc, Aftimos, Salim, MD, Mey, Antje, MD, Nair, Lal D V, MD, Begleiter, Michael L, MSc, De Bie, Isabelle, PhD, Meenakshi, Girish, MBBS, Murray, Mitzi L, MD, Repetto, Gabriela M, MD, Golabi, Mahin, MD, Blair, Edward, MD, Male, Alison, MD, Giuliano, Fabienne, MD, Kariminejad, Ariana, MD, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, PhD, Wieczorek, Dagmar, MD, Tostevin, Anna, MSc, Wiszniewska, Joanna, MD, Cheung, Sau Wai, Prof, Hennekam, Raoul C, Prof, Gibbs, Richard A, Prof, Lee, Brendan H, Prof, Sisodiya, Sanjay M, Prof
Published in Lancet neurology (2014)
Published in Lancet neurology (2014)
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
PENGFEI LIU, EREZ, Ayelet, REID SUTTON, V, ROEDER, Elizabeth R, BODENSTEINER, John B, DELGADO, Mauricio R, PRAKASH, Siddharth K, BELMONT, John W, STANKIEWICZ, Pawel, BERG, Jonathan S, SHINAWI, Marwan, PATEL, Ankita, SREENATH NAGAMANI, Sandesh C, WAI CHEUNG, Sau, LUPSKI, James R, WEIMIN BI, CARVALHO, Claudia M. B, SIMMONS, Alexandra D, WISZNIEWSKA, Joanna, PING FANG, ENG, Patricia A, LANCE COOPER, M
Published in Human molecular genetics (15.05.2011)
Published in Human molecular genetics (15.05.2011)
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
Ou, Zhishuo, Stankiewicz, Paweł, Xia, Zhilian, Breman, Amy M, Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M Lance, Rao, Mitchell, Shao, Lina, South, Sarah T, Coleman, Karlene, Fernhoff, Paul M, Deray, Marcel J, Rosengren, Sally, Roeder, Elizabeth R, Enciso, Victoria B, Chinault, A Craig, Patel, Ankita, Kang, Sung-Hae L, Shaw, Chad A, Lupski, James R, Cheung, Sau W
Published in Genome research (01.01.2011)
Published in Genome research (01.01.2011)
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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
Douglas, Ganka V, Wiszniewska, Joanna, Lipson, Mark H, Witt, David R, McDowell, Taryn, Sifry-Platt, Mara, Hirano, Michio, Craigen, William J, Wong, Lee-Jun C
Published in Journal of human genetics (01.12.2011)
Published in Journal of human genetics (01.12.2011)
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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Celestino-Soper, Patrícia Bs, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata Mj, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, Ladonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Published in Molecular cytogenetics (05.04.2012)
Published in Molecular cytogenetics (05.04.2012)
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Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies
Liu, Pengfei, Walter, Klaudia, Writzl, Karin, Gelowani, Violet, Lindsay, Sarah, Carvalho, Claudia MB, Withers, Marjorie, Wiszniewska, Joanna, Patel, Ankita, Rautenstrauss, Bernd, Hurles, Matthew E, Lupski, James R
Published in BMC proceedings (01.10.2012)
Published in BMC proceedings (01.10.2012)
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Performance Evaluation of a Novel Artificial Intelligence–Assisted Digital Microscopy System for the Routine Analysis of Bone Marrow Aspirates
Bagg, Adam, Raess, Philipp W., Rund, Deborah, Bhattacharyya, Siddharth, Wiszniewska, Joanna, Horowitz, Alon, Jengehino, Darrin, Fan, Guang, Huynh, Michelle, Sanogo, Abdoulaye, Avivi, Irit, Katz, Ben-Zion
Published in Modern pathology (01.09.2024)
Published in Modern pathology (01.09.2024)
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Performance Evaluation Study of a Novel Digital Microscopy System for the Quantitative Analysis of Bone Marrow Aspirates
Bagg, Adam, Raess, Philipp, Rund, Deborah, Jengehino, Darrin, Wiszniewska, Joanna, Huynh, Michelle, Sanogo, Abdoulaye, Horowitz, Alon, Fan, Guang, Bhattacharyya, Siddharth, Avivi, Irit, Katz, Ben Zion
Published in Blood (23.11.2021)
Published in Blood (23.11.2021)
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Donor-derived posttransplant lymphoproliferative disease detection by donor-derived cell-free DNA
Wungnema, Mia, Hack, Madelaine, Vaskova, Evgeniya, Gulbahce, Natali, Zhang, Hao, Grskovic, Marica, Miller, Allison, Stack, Megan, de Mattos, Angelo, Raess, Phillipp W., Xie, Wei, Wiszniewska, Joanna, Andeen, Nicole K., Kung, Vanderlene L., Maynard, Erin, Rehman, Shehzad
Published in American journal of transplantation (25.09.2024)
Published in American journal of transplantation (25.09.2024)
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Copy number and SNP arrays in clinical diagnostics
Schaaf, Christian P, Wiszniewska, Joanna, Beaudet, Arthur L
Published in Annual review of genomics and human genetics (01.01.2011)
Published in Annual review of genomics and human genetics (01.01.2011)
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Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features
Wiszniewska, Joanna, Roy, Angshumoy, Masand, Ramya P
Published in The American journal of dermatopathology (01.03.2016)
Published in The American journal of dermatopathology (01.03.2016)
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria, Probst, Frank J, Scaglia, Fernando, Beaudet, Arthur L, Lupski, James R, Eng, Christine, Cheung, Sau Wai, Bacino, Carlos, Patel, Ankita
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development
Liu, Pengfei, Yuan, Bo, Carvalho, Claudia M.B., Wuster, Arthur, Walter, Klaudia, Zhang, Ling, Gambin, Tomasz, Chong, Zechen, Campbell, Ian M., Coban Akdemir, Zeynep, Gelowani, Violet, Writzl, Karin, Bacino, Carlos A., Lindsay, Sarah J., Withers, Marjorie, Gonzaga-Jauregui, Claudia, Wiszniewska, Joanna, Scull, Jennifer, Stankiewicz, Paweł, Jhangiani, Shalini N., Muzny, Donna M., Zhang, Feng, Chen, Ken, Gibbs, Richard A., Rautenstrauss, Bernd, Cheung, Sau Wai, Smith, Janice, Breman, Amy, Shaw, Chad A., Patel, Ankita, Hurles, Matthew E., Lupski, James R.
Published in Cell (23.02.2017)
Published in Cell (23.02.2017)
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Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome
Xie, Wei, Raess, Philipp W., Dunlap, Jennifer, Hoyos, Cristina Magallanes, Li, Hongmei, Li, Peng, Swords, Ronan, Olson, Susan B., Yang, Fei, Anekpuritanang, Tauangtham, Hu, Shimin, Wiszniewska, Joanna, Fan, Guang, Press, Richard D., Moore, Stephen R.
Published in Leukemia & lymphoma (03.07.2022)
Published in Leukemia & lymphoma (03.07.2022)
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Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center
Kim, Taylor Olmsted, Curry, Choladda V., Wiszniewska, Joanna, Elghetany, M. Tarek, Satter, Lisa R. Forbes, Grimes, Amanda B., Despotovic, Jenny M.
Published in Pediatric blood & cancer (01.04.2023)
Published in Pediatric blood & cancer (01.04.2023)
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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences
Bi, Weimin, Yuan, Bo, Liu, Pengfei, Murry, Jaclyn B, Qin, Xiang, Xia, Fan, Quach, Thao, Cooper, Lance M, Wiszniewska, Joanna, Hixson, Patricia, Peacock, Sandra, Tonk, Vijay S, Huff, Robert W, Ortega, Veronica, Lupski, James R, Scherer, Steven E, Littlejohn, Rebecca Okashah, Velagaleti, Gopalrao V N, Roeder, Elizabeth R, Cheung, Sau Wai
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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