Works by Graham, Brett

Results: 82
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    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.

    Published in:
    PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
    By:
    • Bayat, Vafa;
    • Thiffault, Isabelle;
    • Jaiswal, Manish;
    • Tétreault, Martine;
    • Donti, Taraka;
    • Sasarman, Florin;
    • Bernard, Geneviève;
    • Demers-Lamarche, Julie;
    • Dicaire, Marie-Josée;
    • Mathieu, Jean;
    • Vanasse, Michel;
    • Bouchard, Jean-Pierre;
    • Rioux, Marie-France;
    • Lourenco, Charles M.;
    • Zhihong Li;
    • Haueter, Claire;
    • Shoubridge, Eric A.;
    • Graham, Brett H.;
    • Brais, Bernard;
    • Bellen, Hugo J.
    Publication type:
    Article
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    Calretinin-expressing islet cells are a source of pre- and post-synaptic inhibition of non-peptidergic nociceptor input to the mouse spinal cord.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-38605-9
    By:
    • Davis, Olivia C.;
    • Dickie, Allen C.;
    • Mustapa, Marami B.;
    • Boyle, Kieran A.;
    • Browne, Tyler J.;
    • Gradwell, Mark A.;
    • Smith, Kelly M.;
    • Polgár, Erika;
    • Bell, Andrew M.;
    • Kókai, Éva;
    • Watanabe, Masahiko;
    • Wildner, Hendrik;
    • Zeilhofer, Hanns Ulrich;
    • Ginty, David D.;
    • Callister, Robert J.;
    • Graham, Brett A.;
    • Todd, Andrew J.;
    • Hughes, David I.
    Publication type:
    Article
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    Gabapentin Modulates HCN4 Channel Voltage-Dependence.

    Published in:
    Frontiers in Pharmacology, 2017, p. 1, doi. 10.3389/fphar.2017.00554
    By:
    • Han-Shen Tae;
    • Smith, Kelly M.;
    • Phillips, A. Marie;
    • Boyle, Kieran A.;
    • Li, Melody;
    • Forster, Ian C.;
    • Hatch, Robert J.;
    • Richardson, Robert;
    • Hughes, David I.;
    • Graham, Brett A.;
    • Petrou, Steven;
    • Reid, Christopher A.
    Publication type:
    Article
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    MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

    Published in:
    Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
    By:
    • Meng, Linyan;
    • Isohanni, Pirjo;
    • Shao, Yunru;
    • Graham, Brett H.;
    • Hickey, Scott E.;
    • Brooks, Stephanie;
    • Suomalainen, Anu;
    • Joset, Pascal;
    • Steindl, Katharina;
    • Rauch, Anita;
    • Hackenberg, Annette;
    • High, Frances A.;
    • Armstrong‐Javors, Amy;
    • Mencacci, Niccolò E.;
    • Gonzàlez‐Latapi, Paulina;
    • Kamel, Walaa A.;
    • Al‐Hashel, Jasem Y.;
    • Bustos, Bernabé I.;
    • Hernandez, Alejandro V.;
    • Krainc, Dimitri
    Publication type:
    Article
    9

    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
    By:
    • Huemer, Martina;
    • Karall, Daniela;
    • Schossig, Anna;
    • Abdenur, Jose;
    • Jasmi, Fatma;
    • Biagosch, Caroline;
    • Distelmaier, Felix;
    • Freisinger, Peter;
    • Graham, Brett;
    • Haack, Tobias;
    • Hauser, Natalie;
    • Hertecant, Jozef;
    • Ebrahimi-Fakhari, Darius;
    • Konstantopoulou, Vassiliki;
    • Leydiker, Karen;
    • Lourenco, Charles;
    • Scholl-Bürgi, Sabine;
    • Wilichowski, Ekkehard;
    • Wolf, Nicole;
    • Wortmann, Saskia
    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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    Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

    Published in:
    Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
    By:
    • Marom, Ronit;
    • Jain, Mahim;
    • Burrage, Lindsay C.;
    • Song, I‐Wen;
    • Graham, Brett H.;
    • Brown, Chester W.;
    • Stevens, Servi J.C.;
    • Stegmann, Alexander P.A.;
    • Gunter, Andrew T.;
    • Kaplan, Julie D.;
    • Gavrilova, Ralitza H.;
    • Shinawi, Marwan;
    • Rosenfeld, Jill A.;
    • Bae, Yangjin;
    • Tran, Alyssa A.;
    • Chen, Yuqing;
    • Lu, James T.;
    • Gibbs, Richard A.;
    • Eng, Christine;
    • Yang, Yaping
    Publication type:
    Article
    28

    Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
    By:
    • Ng, Bobby G.;
    • Raymond, Kimiyo;
    • Kircher, Martin;
    • Buckingham, Kati J.;
    • Wood, Tim;
    • Shendure, Jay;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.;
    • Wong, Jonathan T.S.;
    • Monteiro, Fabiola Paoli;
    • Graham, Brett H.;
    • Jackson, Sheryl;
    • Sparkes, Rebecca;
    • Scheuerle, Angela E.;
    • Cathey, Sara;
    • Kok, Fernando;
    • Gibson, James B.;
    • Freeze, Hudson H.
    Publication type:
    Article
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    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

    Published in:
    Human Mutation, 2010, v. 31, n. 7, p. 840, doi. 10.1002/humu.21284
    By:
    • Szafranski, Przemyslaw;
    • Schaaf, Christian P.;
    • Person, Richard E.;
    • Gibson, Ian B.;
    • Xia, Zhilian;
    • Mahadevan, Sangeetha;
    • Wiszniewska, Joanna;
    • Bacino, Carlos A.;
    • Lalani, Seema;
    • Potocki, Lorraine;
    • Kang, Sung-Hae;
    • Patel, Ankita;
    • Cheung, Sau Wai;
    • Probst, Frank J.;
    • Graham, Brett H.;
    • Shinawi, Marwan;
    • Beaudet, Arthur L.;
    • Stankiewicz, Pawel
    Publication type:
    Article
    31

    Gabapentin—Friend or foe?

    Published in:
    Pain Practice, 2023, v. 23, n. 1, p. 63, doi. 10.1111/papr.13165
    By:
    • Russo, Marc;
    • Graham, Brett;
    • Santarelli, Danielle M.
    Publication type:
    Article
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    Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.

    Published in:
    2019
    By:
    • Vetrini, Francesco;
    • McKee, Shane;
    • Rosenfeld, Jill A.;
    • Suri, Mohnish;
    • Lewis, Andrea M.;
    • Nugent, Kimberly Margaret;
    • Roeder, Elizabeth;
    • Littlejohn, Rebecca O.;
    • Holder, Sue;
    • Zhu, Wenmiao;
    • Alaimo, Joseph T.;
    • Graham, Brett;
    • Harris, Jill M.;
    • Gibson, James B.;
    • Pastore, Matthew;
    • McBride, Kim L.;
    • Komara, Makanko;
    • Al-Gazali, Lihadh;
    • Al Shamsi, Aisha;
    • Fanning, Elizabeth A.
    Publication type:
    Correction Notice
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    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0623-0
    By:
    • Vetrini, Francesco;
    • McKee, Shane;
    • Rosenfeld, Jill A.;
    • Suri, Mohnish;
    • Lewis, Andrea M.;
    • Nugent, Kimberly Margaret;
    • Roeder, Elizabeth;
    • Littlejohn, Rebecca O.;
    • Holder, Sue;
    • Zhu, Wenmiao;
    • Alaimo, Joseph T.;
    • Graham, Brett;
    • Harris, Jill M.;
    • Gibson, James B.;
    • Pastore, Matthew;
    • McBride, Kim L.;
    • Komara, Makanko;
    • Al-Gazali, Lihadh;
    • Al Shamsi, Aisha;
    • Fanning, Elizabeth A.
    Publication type:
    Article
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    Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice.

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0858-y
    By:
    • Emmerzaal, Tim L.;
    • Preston, Graeme;
    • Geenen, Bram;
    • Verweij, Vivienne;
    • Wiesmann, Maximilian;
    • Vasileiou, Elisavet;
    • Grüter, Femke;
    • de Groot, Corné;
    • Schoorl, Jeroen;
    • de Veer, Renske;
    • Roelofs, Monica;
    • Arts, Martijn;
    • Hendriksen, Yara;
    • Klimars, Eva;
    • Donti, Taraka R.;
    • Graham, Brett H.;
    • Morava, Eva;
    • Rodenburg, Richard J.;
    • Kozicz, Tamas
    Publication type:
    Article
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    6q22.1 microdeletion and susceptibility to pediatric epilepsy.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
    By:
    • Szafranski, Przemyslaw;
    • Von Allmen, Gretchen K;
    • Graham, Brett H;
    • Wilfong, Angus A;
    • Kang, Sung-Hae L;
    • Ferreira, Jose A;
    • Upton, Sheila J;
    • Moeschler, John B;
    • Bi, Weimin;
    • Rosenfeld, Jill A;
    • Shaffer, Lisa G;
    • Wai Cheung, Sau;
    • Stankiewicz, Paweł;
    • Lalani, Seema R
    Publication type:
    Article
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    Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
    By:
    • Nagamani, Sandesh C Sreenath;
    • Erez, Ayelet;
    • Bay, Carolyn;
    • Pettigrew, Anjana;
    • Lalani, Seema R;
    • Herman, Kristin;
    • Graham, Brett H;
    • Nowaczyk, Malgorzata JM;
    • Proud, Monica;
    • Craigen, William J;
    • Hopkins, Bobbi;
    • Kozel, Beth;
    • Plunkett, Katie;
    • Hixson, Patricia;
    • Stankiewicz, Pawel;
    • Patel, Ankita;
    • Cheung, Sau Wai
    Publication type:
    Article