Works by Scaglia, Fernando

Results: 78
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    Characterization of the renal phenotype in RMND1‐related mitochondrial disease.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
    By:
    • Shayota, Brian J.;
    • Le, Nhon T.;
    • Bekheirnia, Nasim;
    • Rosenfeld, Jill A.;
    • Goldstein, Amy C.;
    • Moritz, Michael;
    • Bartholomew, Dennis W.;
    • Pastore, Matthew T.;
    • Xia, Fan;
    • Eng, Christine;
    • Yang, Yaping;
    • Lamb, Dolores J.;
    • Scaglia, Fernando;
    • Braun, Michael C.;
    • Bekheirnia, Mir Reza
    Publication type:
    Article
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    Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.

    Published in:
    EMBO Journal, 2004, v. 23, n. 17, p. 3559, doi. 10.1038/sj.emboj.7600351
    By:
    • Sano, Motoaki;
    • Wang, Sam C.;
    • Shirai, Manabu;
    • Scaglia, Fernando;
    • Min Xie;
    • Sakai, Satoshi;
    • Tanaka, Toru;
    • Kulkarni, Prathit A.;
    • Barger, Philip M.;
    • Youker, Keith A.;
    • Taffet, George E.;
    • Hamamori, Yasuo;
    • Michael, Lloyd H.;
    • Craigen, William J.;
    • Schneider, Michael D.
    Publication type:
    Article
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    Reply.

    Published in:
    Annals of Neurology, 2009, v. 65, n. 4, p. 482, doi. 10.1002/ana.21689
    By:
    • Bodamer, Olaf A.;
    • Scaglia, Fernando
    Publication type:
    Article
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    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

    Published in:
    Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
    By:
    • Brunetti-Pierri, Nicola;
    • Berg, Jonathan S.;
    • Scaglia, Fernando;
    • Belmont, John;
    • Bacino, Carlos A.;
    • Sahoo, Trilochan;
    • Lalani, Seema R.;
    • Graham, Brett;
    • Lee, Brendan;
    • Shinawi, Marwan;
    • Shen, Joseph;
    • Kang, Sung-Hae L.;
    • Pursley, Amber;
    • Lotze, Timothy;
    • Kennedy, Gail;
    • Lansky-Shafer, Susan;
    • Weaver, Christine;
    • Roeder, Elizabeth R.;
    • Grebe, Theresa A.;
    • Arnold, Georgianne L.
    Publication type:
    Article
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    Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.

    Published in:
    Advanced Genetics, 2022, v. 3, n. 1, p. 1, doi. 10.1002/ggn2.202100047
    By:
    • Karaa, Amel;
    • MacMullen, Laura E.;
    • Campbell, John C.;
    • Christodoulou, John;
    • Cohen, Bruce H.;
    • Klopstock, Thomas;
    • Koga, Yasutoshi;
    • Lamperti, Costanza;
    • van Maanen, Rob;
    • McFarland, Robert;
    • Parikh, Sumit;
    • Rahman, Shamima;
    • Scaglia, Fernando;
    • Sherman, Alexander V.;
    • Yeske, Philip;
    • Falk, Marni J.
    Publication type:
    Article
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    Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
    By:
    • Chong, Shuk Ching;
    • Cao, Ye;
    • Fung, Eva L. W.;
    • Kleppe, Soledad;
    • Gripp, Karen W.;
    • Hertecant, Jozef;
    • El‐Hattab, Ayman W.;
    • Suleiman, Jehan;
    • Clark, Gary;
    • von Allmen, Gretchen;
    • Rodziyevska, Olga;
    • Lewis, Richard A.;
    • Rosenfeld, Jill A.;
    • Dong, Jie;
    • Wang, Xia;
    • Miller, Marcus J.;
    • Bi, Weimin;
    • Liu, Pengfei;
    • Scaglia, Fernando
    Publication type:
    Article
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    Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.

    Published in:
    Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
    By:
    • Jordan, Valerie K.;
    • Fregeau, Brieana;
    • Ge, Xiaoyan;
    • Giordano, Jessica;
    • Wapner, Ronald J.;
    • Balci, Tugce B.;
    • Carter, Melissa T.;
    • Bernat, John A.;
    • Moccia, Amanda N.;
    • Srivastava, Anshika;
    • Martin, Donna M.;
    • Bielas, Stephanie L.;
    • Pappas, John;
    • Svoboda, Melissa D.;
    • Rio, Marlène;
    • Boddaert, Nathalie;
    • Cantagrel, Vincent;
    • Lewis, Andrea M.;
    • Scaglia, Fernando;
    • Undiagnosed Diseases Network
    Publication type:
    Article
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    Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

    Published in:
    Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
    By:
    • Stankiewicz, Paweł;
    • Kulkarni, Shashikant;
    • Dharmadhikari, Avinash V.;
    • Sampath, Srirangan;
    • Bhatt, Samarth S.;
    • Shaikh, Tamim H.;
    • Xia, Zhilian;
    • Pursley, Amber N.;
    • Cooper, M. Lance;
    • Shinawi, Marwan;
    • Paciorkowski, Alex R.;
    • Grange, Dorothy K.;
    • Noetzel, Michael J.;
    • Saunders, Scott;
    • Simons, Paul;
    • Summar, Marshall;
    • Lee, Brendan;
    • Scaglia, Fernando;
    • Fellmann, Florence;
    • Martinet, Danielle
    Publication type:
    Article
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    A new buzzard from the late Pliocene of Argentina.

    Published in:
    Palaeontologia Polonica, 2021, v. 66, n. 4, p. 779, doi. 10.4202/app.00933.2021
    By:
    • DEGRANGE, FEDERICO J.;
    • TAMBUSSI, CLAUDIA P.;
    • TAGLIORETTI, MATÍAS L.;
    • SCAGLIA, FERNANDO A.
    Publication type:
    Article
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    Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
    By:
    • Komulainen‐Ebrahim, Jonna;
    • Kangas, Salla M.;
    • López‐Martín, Estrella;
    • Feyma, Timothy;
    • Scaglia, Fernando;
    • Martínez‐Delgado, Beatriz;
    • Kuismin, Outi;
    • Suo‐Palosaari, Maria;
    • Carr, Lucinda;
    • Hinttala, Reetta;
    • Kurian, Manju A.;
    • Uusimaa, Johanna
    Publication type:
    Article
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    A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonica.

    Published in:
    Nature Communications, 2017, v. 8, n. 6, p. 15951, doi. 10.1038/ncomms15951
    By:
    • Westbury, Michael;
    • Baleka, Sina;
    • Barlow, Axel;
    • Hartmann, Stefanie;
    • Paijmans, Johanna L.A.;
    • Kramarz, Alejandro;
    • Forasiepi, Analía M;
    • Bond, Mariano;
    • Gelfo, Javier N.;
    • Reguero, Marcelo A.;
    • López-Mendoza, Patricio;
    • Taglioretti, Matias;
    • Scaglia, Fernando;
    • Rinderknecht, Andrés;
    • Jones, Washington;
    • Mena, Francisco;
    • Billet, Guillaume;
    • de Muizon, Christian;
    • Aguilar, José Luis;
    • MacPhee, Ross D.E.
    Publication type:
    Article
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    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
    By:
    • 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
    Publication type:
    Article
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    Phenotypic manifestations of copy number variation in chromosome 16p13.11.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
    By:
    • Nagamani, Sandesh C. Sreenath;
    • Erez, Ayelet;
    • Bader, Patricia;
    • Lalani, Seema R.;
    • Scott, Daryl A.;
    • Scaglia, Fernando;
    • Plon, Sharon E.;
    • Chun-Hui Tsai;
    • Reimschisel, Tyler;
    • Roeder, Elizabeth;
    • Malphrus, Amy D.;
    • Eng, Patricia A.;
    • Hixson, Patricia M.;
    • Kang, Sung-Hae L.;
    • Stankiewicz, Pawel;
    • Patel, Ankita;
    • Sau Wai Cheung
    Publication type:
    Article
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    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377
    By:
    • Yanyan Peng;
    • Shinde, Deepali N.;
    • Valencia, C. Alexander;
    • Jun-Song Mo;
    • Rosenfeld, Jill;
    • Cho, Megan Truitt;
    • Chamberlin, Adam;
    • Zhuo Li;
    • Jie Liu;
    • Baoheng Gui;
    • Brockhage, Rachel;
    • Basinger, Alice;
    • Alvarez-Leon, Brenda;
    • Heydemann, Peter;
    • Magoulas, Pilar L.;
    • Lewis, Andrea M.;
    • Scaglia, Fernando;
    • Gril, Solange;
    • Shuk Ching Chong;
    • Bower, Matthew
    Publication type:
    Article
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