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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Kohda, Masakazu ; Tokuzawa, Yoshimi ; Kishita, Yoshihito ; Nyuzuki, Hiromi ; Moriyama, Yohsuke ; Mizuno, Yosuke ; Hirata, Tomoko ; Yatsuka, Yukiko ; Yamashita-Sugahara, Yzumi ; Nakachi, Yutaka ; Kato, Hidemasa ; Okuda, Akihiko ; Tamaru, Shunsuke ; Borna, Nurun Nahar ; Banshoya, Kengo ; Aigaki, Toshiro ; Sato-Miyata, Yukiko ; Ohnuma, Kohei ; Suzuki, Tsutomu ; Nagao, Asuteka ; Maehata, Hazuki ; Matsuda, Fumihiko ; Higasa, Koichiro ; Nagasaki, Masao ; Yasuda, Jun ; Yamamoto, Masayuki ; Fushimi, Takuya ; Shimura, Masaru ; Kaiho-Ichimoto, Keiko ; Harashima, Hiroko ; Yamazaki, Taro ; Mori, Masato ; Murayama, Kei ; Ohtake, Akira ; Okazaki, Yasushi Barsh, Gregory S.

PLoS genetics, 2016-01, Vol.12 (1), p.e1005679-e1005679 [Periódico revisado por pares]

United States: Public Library of Science

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2
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service
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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service

Hamblin, Angela ; Wordsworth, Sarah ; Fermont, Jilles M ; Page, Suzanne ; Kaur, Kulvinder ; Camps, Carme ; Kaisaki, Pamela ; Gupta, Avinash ; Talbot, Denis ; Middleton, Mark ; Henderson, Shirley ; Cutts, Anthony ; Vavoulis, Dimitrios V ; Housby, Nick ; Tomlinson, Ian ; Taylor, Jenny C ; Schuh, Anna Ladanyi, Marc

PLoS medicine, 2017-02, Vol.14 (2), p.e1002230-e1002230 [Periódico revisado por pares]

United States: Public Library of Science

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3
Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis
Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis
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Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis

Manoharan, Neevika ; Ajuyah, Pamela ; Senapati, Akanksha ; Wong, Marie ; Mullins, Anna ; Rodriguez, Michael ; Doyle, Helen ; McCowage, Geoff ; Lau, Loretta M S ; Ekert, Paul G ; Ziegler, David S

Acta neuropathologica communications, 2021-09, Vol.9 (1), p.147-147, Article 147 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
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Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

Jiang, Jianping ; Huang, Jinwei ; Gu, Jianlei ; Cai, Xiaoshu ; Zhao, Hongyu ; Lu, Hui

BMC medical genetics, 2019-12, Vol.20 (1), p.204-204, Article 204 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing
Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing
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Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing

Shen, Jiandong ; Ding, Taoli ; Sun, Xueping ; Yang, Ji ; Zhang, Yue ; Wang, Jing ; Ge, Mengdi ; Xu, Heng ; Xie, Jiazi ; Wang, Fei ; Diao, Feiyang

BMC genomics, 2024-03, Vol.25 (1), p.292-292, Article 292 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Genomic analysis of DNA repair genes and androgen signaling in prostate cancer
Genomic analysis of DNA repair genes and androgen signaling in prostate cancer
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Genomic analysis of DNA repair genes and androgen signaling in prostate cancer

Jividen, Kasey ; Kedzierska, Katarzyna Z ; Yang, Chun-Song ; Szlachta, Karol ; Ratan, Aakrosh ; Paschal, Bryce M

BMC cancer, 2018-10, Vol.18 (1), p.960-20, Article 960 [Periódico revisado por pares]

England: BioMed Central

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7
Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis
Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis
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Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis

Hendricks, William P D ; Zismann, Victoria ; Sivaprakasam, Karthigayini ; Legendre, Christophe ; Poorman, Kelsey ; Tembe, Waibhav ; Perdigones, Nieves ; Kiefer, Jeffrey ; Liang, Winnie ; DeLuca, Valerie ; Stark, Mitchell ; Ruhe, Alison ; Froman, Roe ; Duesbery, Nicholas S ; Washington, Megan ; Aldrich, Jessica ; Neff, Mark W ; Huentelman, Matthew J ; Hayward, Nicholas ; Brown, Kevin ; Thamm, Douglas ; Post, Gerald ; Khanna, Chand ; Davis, Barbara ; Breen, Matthew ; Sekulic, Alexander ; Trent, Jeffrey M Cooper, Gregory M.

PLoS genetics, 2018-09, Vol.14 (9), p.e1007589-e1007589 [Periódico revisado por pares]

United States: Public Library of Science

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8
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Shamseldin, Hanan E ; Alshammari, Muneera ; Al-Sheddi, Tarfa ; Salih, Mustafa A ; Alkhalidi, Hisham ; Kentab, Amal ; Repetto, Gabriela M ; Hashem, Mais ; Alkuraya, Fowzan S

Journal of medical genetics, 2012-04, Vol.49 (4), p.234-241 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
An integrated genomic analysis of lung cancer reveals loss of DUSP4 in EGFR-mutant tumors
An integrated genomic analysis of lung cancer reveals loss of DUSP4 in EGFR-mutant tumors
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An integrated genomic analysis of lung cancer reveals loss of DUSP4 in EGFR-mutant tumors

CHITALE, D ; GONG, Y ; REINERSMAN, J. M ; MAJOR, J ; SANDER, C ; SESHAN, V. E ; ZAKOWSKI, M. F ; RUSCH, V ; PAO, W ; GERALD, W ; LADANYI, M ; TAYLOR, B. S ; BRODERICK, S ; BRENNAN, C ; SOMWAR, R ; GOLAS, B ; WANG, L ; MOTOI, N ; SZOKE, J

Oncogene, 2009-08, Vol.28 (31), p.2773-2783 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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10
Genomic analysis of cellular hierarchy in acute myeloid leukemia using ultrasensitive LC-FACSeq
Genomic analysis of cellular hierarchy in acute myeloid leukemia using ultrasensitive LC-FACSeq
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Genomic analysis of cellular hierarchy in acute myeloid leukemia using ultrasensitive LC-FACSeq

Saygin, Caner ; Hu, Eileen ; Zhang, Pu ; Sher, Steven ; Lozanski, Arletta ; Doong, Tzyy-Jye ; Nicolet, Deedra ; Orwick, Shelley ; Labanowska, Jadwiga ; Skinner, Jordan N ; Cempre, Casey ; Kauffman, Tierney ; Goettl, Virginia M ; Heerema, Nyla A ; Abruzzo, Lynne ; Miller, Cecelia ; Lapalombella, Rosa ; Behbehani, Gregory ; Mims, Alice S ; Larkin, Karilyn ; Grieselhuber, Nicole ; Walker, Alison ; Bhatnagar, Bhavana ; Bloomfield, Clara D ; Byrd, John C ; Lozanski, Gerard ; Blachly, James S

Leukemia, 2021-12, Vol.35 (12), p.3406-3420 [Periódico revisado por pares]

England: Nature Publishing Group

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