Works by Ali Torkamani

Results: 76
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18

    Large-scale rare variant burden testing in Parkinson's disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4622, doi. 10.1093/brain/awad214
    By:
    • Makarious, Mary B;
    • Lake, Julie;
    • Pitz, Vanessa;
    • Fu, Allen Ye;
    • Guidubaldi, Joseph L;
    • Solsberg, Caroline Warly;
    • Bandres-Ciga, Sara;
    • Leonard, Hampton L;
    • Kim, Jonggeol Jeffrey;
    • Billingsley, Kimberley J;
    • Grenn, Francis P;
    • Jerez, Pilar Alvarez;
    • Alvarado, Chelsea X;
    • Iwaki, Hirotaka;
    • Ta, Michael;
    • Vitale, Dan;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John
    Publication type:
    Article
    19

    Genome‐Wide Analysis of Structural Variants in Parkinson Disease.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
    By:
    • Billingsley, Kimberley J.;
    • Ding, Jinhui;
    • Jerez, Pilar Alvarez;
    • Illarionova, Anastasia;
    • Levine, Kristin;
    • Grenn, Francis P.;
    • Makarious, Mary B.;
    • Moore, Anni;
    • Vitale, Daniel;
    • Reed, Xylena;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John;
    • Chia, Ruth;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Dalgard, Clifton L.;
    • Ehrlich, Debra J.;
    • Tanaka, Toshiko
    Publication type:
    Article
    20

    Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

    Published in:
    2019
    By:
    • Kang, Seok Kyu;
    • Vanoye, Carlos G.;
    • Misra, Sunita N.;
    • Echevarria, Dennis M.;
    • Calhoun, Jeffrey D.;
    • O'Connor, John B.;
    • Fabre, Katarina L.;
    • McKnight, Dianalee;
    • Demmer, Laurie;
    • Goldenberg, Paula;
    • Grote, Lauren E.;
    • Thiffault, Isabelle;
    • Saunders, Carol;
    • Strauss, Kevin A.;
    • Torkamani, Ali;
    • der Smagt, Jasper;
    • Gassen, Koen;
    • Carson, Robert P.;
    • Diaz, Jullianne;
    • Leon, Eyby
    Publication type:
    journal article
    21

    De novo KCNB1 mutations in epileptic encephalopathy.

    Published in:
    Annals of Neurology, 2014, v. 76, n. 4, p. 529, doi. 10.1002/ana.24263
    By:
    • Torkamani, Ali;
    • Bersell, Kevin;
    • Jorge, Benjamin S.;
    • Bjork, Robert L.;
    • Friedman, Jennifer R.;
    • Bloss, Cinnamon S.;
    • Cohen, Julie;
    • Gupta, Siddharth;
    • Naidu, Sakkubai;
    • Vanoye, Carlos G.;
    • George, Alfred L.;
    • Kearney, Jennifer A.
    Publication type:
    Article
    22

    A brain DNA co‐methylation network analysis of psychosis in Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2025, v. 21, n. 2, p. 1, doi. 10.1002/alz.14501
    By:
    • Kouhsar, Morteza;
    • Weymouth, Luke;
    • Smith, Adam R.;
    • Imm, Jennifer;
    • Bredemeyer, Claudia;
    • Wedatilake, Yehani;
    • Torkamani, Ali;
    • Bergh, Sverre;
    • Selbæk, Geir;
    • Mill, Jonathan;
    • Ballard, Clive;
    • Sweet, Robert A.;
    • Kofler, Julia;
    • Creese, Byron;
    • Pishva, Ehsan;
    • Lunnon, Katie
    Publication type:
    Article
    23

    Co‐methylation network analysis of Psychosis in Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.088982
    By:
    • Kouhsar, Morteza P;
    • Weymouth, Luke;
    • Smith, Adam;
    • Imm, Jennifer;
    • Bredemeyer, Claudia;
    • Wedatilake, Yehani;
    • Torkamani, Ali;
    • Bergh, Sverre;
    • Selbaek, Geir;
    • Mill, Jonathan;
    • Ballard, Clive G;
    • Sweet, Robert;
    • Kofler, Julia;
    • Creese, Byron;
    • Pishva, Ehsan;
    • Lunnon, Katie
    Publication type:
    Article
    24
    25
    26
    27

    Transcription‐based drug repurposing in Alzheimer disease psychosis.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.065938
    By:
    • Kouhsar, Morteza P;
    • Creese, Byron;
    • Weymouth, Luke Stephen;
    • Smith, Adam R.;
    • Bergh, Sverre;
    • Wedatilake, Yehani;
    • Selbæk, Geir;
    • Torkamani, Ali;
    • Mill, Jonathan;
    • Ballard, Clive G;
    • Sweet, Robert;
    • Kofler, Julia;
    • Pishva, Ehsan;
    • Lunnon, Katie
    Publication type:
    Article
    28

    Machine learning‐based prediction of cognitive outcomes in de novo Parkinson's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 5, p. 1, doi. 10.1002/alz.067067
    By:
    • Harvey, Joshua;
    • Reijnders, Rick A;
    • Cavill, Rachel;
    • Duits, Annelien;
    • Köhler, Sebastian;
    • Eijssen, Lars M.T.;
    • Rutten, Bart P.F.;
    • Shireby, Gemma;
    • Torkamani, Ali;
    • Creese, Byron;
    • Leentjens, Albert F.G.;
    • Lunnon, Katie;
    • Pishva, Ehsan
    Publication type:
    Article
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50

    Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.

    Published in:
    Movement Disorders, 2022, v. 37, n. 10, p. 2161, doi. 10.1002/mds.29155
    By:
    • Billingsley, Kimberley J.;
    • Alvarez Jerez, Pilar;
    • Grenn, Francis P.;
    • Bandres‐Ciga, Sara;
    • Malik, Laksh;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Dalgard, Clifton L.;
    • Ehrlich, Debra J.;
    • Tanaka, Toshiko;
    • Ferrucci, Luigi;
    • Beach, Thomas G.;
    • Serrano, Geidy E.;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Blauwendraat, Cornelis
    Publication type:
    Article