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Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation
Lantieri, Francesca, Malacarne, Michela, Gimelli, Stefania, Santamaria, Giuseppe, Coviello, Domenico, Ceccherini, Isabella
Published in International journal of molecular sciences (10.03.2017)
Published in International journal of molecular sciences (10.03.2017)
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Journal Article
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease
Lantieri, Francesca, Gimelli, Stefania, Viaggi, Chiara, Stathaki, Elissavet, Malacarne, Michela, Santamaria, Giuseppe, Grossi, Alice, Mosconi, Manuela, Sloan-Béna, Frédérique, Prato, Alessio Pini, Coviello, Domenico, Ceccherini, Isabella
Published in Orphanet journal of rare diseases (25.11.2019)
Published in Orphanet journal of rare diseases (25.11.2019)
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Journal Article
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci
Saadati, Hamid Reza, Wittig, Michael, Helbig, Ingo, Häsler, Robert, Anderson, Carl A., Mathew, Christopher G., Kupcinskas, Limas, Parkes, Miles, Karlsen, Tom Hemming, Rosenstiel, Philip, Schreiber, Stefan, Franke, Andre
Published in BMC medical genetics (01.04.2016)
Published in BMC medical genetics (01.04.2016)
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Journal Article
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
Vasson, Aurélie, Leroux, Céline, Orhant, Lucie, Boimard, Mathieu, Toussaint, Aurélie, Leroy, Chrystel, Commere, Virginie, Ghiotti, Tiffany, Deburgrave, Nathalie, Saillour, Yoann, Atlan, Isabelle, Fouveaut, Corinne, Beldjord, Cherif, Valleix, Sophie, Leturcq, France, Dodé, Catherine, Bienvenu, Thierry, Chelly, Jamel, Cossée, Mireille
Published in European journal of human genetics : EJHG (01.09.2013)
Published in European journal of human genetics : EJHG (01.09.2013)
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Journal Article
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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Journal Article
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders
Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Published in Journal of neuromuscular diseases (2018)
Published in Journal of neuromuscular diseases (2018)
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Journal Article
High-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesothelioma
Yoshikawa, Yoshie, Emi, Mitsuru, Hashimoto-Tamaoki, Tomoko, Ohmuraya, Masaki, Sato, Ayuko, Tsujimura, Tohru, Hasegawa, Seiki, Nakano, Takashi, Nasu, Masaki, Pastorino, Sandra, Szymiczek, Agata, Bononi, Angela, Tanji, Mika, Pagano, Ian, Gaudino, Giovanni, Napolitano, Andrea, Goparaju, Chandra, Pass, Harvey I., Yang, Haining, Carbone, Michele
Published in Proceedings of the National Academy of Sciences - PNAS (22.11.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (22.11.2016)
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Journal Article
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
Bi, Weimin, Breman, Amy, Shaw, Chad A, Stankiewicz, Pawel, Gambin, Tomasz, Lu, Xinyan, Cheung, Sau Wai, Jackson, Laird G, Lupski, James R, Van den Veyver, Ignatia B, Beaudet, Arthur L
Published in Prenatal diagnosis (01.01.2012)
Published in Prenatal diagnosis (01.01.2012)
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Journal Article
Characterization of del20q in Peripheral Blood of MPD Patients Using Copy Number Analysis and High Resolution Oligonucleotide CGH Array
Schaub, Franz, Tiedt, Ralph, Hermouet, Sylvie, Girodon, François, Kralovics, Robert, Tichelli, André, Skoda, Radek C.
Published in Blood (16.11.2007)
Published in Blood (16.11.2007)
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Journal Article
Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
Sasaki, Hidenao, Emi, Mitsuru, Iijima, Hiroshi, Ito, Noriko, Sato, Hidenori, Yabe, Ichiro, Kato, Takeo, Utsumi, Jun, Matsubara, Kenichi
Published in Molecular brain (10.06.2011)
Published in Molecular brain (10.06.2011)
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Journal Article
Advanced 3D AR display based on custom-designed asymmetric holographic microlens array with high fill factor
Khuderchuluun, Anar, Wu, Hui-Ying, Erdenebat, Munkh-Uchral, Amgalan, Tuvshinjargal, Kwon, Ki-Chul, Dashdavaa, Erkhembaatar, Kim, Young-Seok, Kim, Nam
Published in Optics and lasers in engineering (01.10.2025)
Published in Optics and lasers in engineering (01.10.2025)
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Journal Article
Micro-Scale Genomic DNA Copy Number Aberrations as Another Means of Mutagenesis in Breast Cancer
Chao, Hann-Hsiang, He, Xiaping, Parker, Joel S., Zhao, Wei, Perou, Charles M.
Published in PloS one (17.12.2012)
Published in PloS one (17.12.2012)
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Journal Article
Enhancing Genome-Wide Copy Number Variation Identification by High Density Array CGH Using Diverse Resources of Pig Breeds
Wang, Jiying, Jiang, Jicai, Wang, Haifei, Kang, Huimin, Zhang, Qin, Liu, Jian-Feng
Published in PloS one (27.01.2014)
Published in PloS one (27.01.2014)
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Journal Article
Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
Wong, Lee-Jun C, Dimmock, David, Geraghty, Michael T, Quan, Richard, Lichter-Konecki, Uta, Wang, Jing, Brundage, Ellen K, Scaglia, Fernando, Chinault, A. Craig
Published in Clinical chemistry (Baltimore, Md.) (01.07.2008)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2008)
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Journal Article
Abstract 2553: High-density array-CGH with targeted NGS unmask multiple non-contiguous minute deletions on chromosome 3p21 in mesothelioma
Carbone, Michele, Yoshikawa, Yoshie, Emi, Mitsuru, Hashimoto-Tamaoki, Tomoko, Ohmuraya, Masaki, Sato, Ayuko, Tsujimura, Tohru, Hasegawa, Seiki, Nakano, Takashi, Nasu, Masaki, Pastorino, Sandra, Szymiczek, Agata, Bononi, Angela, Pass, Harvey I., Yang, Haining
Published in Cancer research (Chicago, Ill.) (01.07.2017)
Published in Cancer research (Chicago, Ill.) (01.07.2017)
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Journal Article
Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
Bi, Weimin, Breman, Amy, Shaw, Chad A., Stankiewicz, Pawel, Gambin, Tomasz, Lu, Xinyan, Cheung, Sau Wai, Jackson, Laird G., Lupski, James R., den Veyver, Ignatia B. Van, Beaudet, Arthur L.
Published in Prenatal diagnosis (01.01.2012)
Published in Prenatal diagnosis (01.01.2012)
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Journal Article
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, Wai Cheung, Sau, 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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Journal Article
Abstract 2553: High-density array-CGH with targeted NGS unmask multiple non-contiguous minute deletions on chromosome 3p21 in mesothelioma
Agata Szymiczek, Yoshie Yoshikawa, Masaki Nasu, Ayuko Sato, Haining Yang, Takashi Nakano, Angela Bononi, Sandra Pastorino, Harvey I. Pass, Seiki Hasegawa, Michele Carbone, Masaki Ohmuraya, Tomoko Hashimoto-Tamaoki, Mitsuru Emi, Tohru Tsujimura
Published in Cancer Research (01.07.2017)
Published in Cancer Research (01.07.2017)
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Journal Article
Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
Wang, Jing, Zhan, Hongli, Li, Fang-Yuan, Pursley, Amber N., Schmitt, Eric S., Wong, Lee-Jun
Published in Molecular genetics and metabolism (01.06.2012)
Published in Molecular genetics and metabolism (01.06.2012)
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Journal Article