Works matching AU Stephen, Joshi

Results: 21
    1
    2

    Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372
    By:
    • Kambouris, Marios;
    • Thevenon, Julien;
    • Soldatos, Ariane;
    • Cox, Allison;
    • Stephen, Joshi;
    • Ben‐Omran, Tawfeg;
    • Al‐Sarraj, Yasser;
    • Boulos, Hala;
    • Bone, William;
    • Mullikin, James C.;
    • Masurel‐Paulet, Alice;
    • St‐Onge, Judith;
    • Dufford, Yannis;
    • Chantegret, Corrine;
    • Thauvin‐Robinet, Christel;
    • Al‐Alami, Jamil;
    • Faivre, Laurence;
    • Riviere, Jean Baptiste;
    • Gahl, William A.;
    • Bassuk, Alexander G.
    Publication type:
    Article
    3
    4
    5

    Diagnosis of Chediak Higashi disease in a 67‐year old woman.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886
    By:
    • Yarnell, David S.;
    • Roney, Joseph C.;
    • Teixeira, Cláudia;
    • Freitas, Maria I.;
    • Cipriano, Ana;
    • Leuschner, Pedro;
    • Krzewski, Konrad;
    • Stephen, Joshi;
    • Dorward, Heidi;
    • Gahl, William A.;
    • Gochuico, Bernadette R.;
    • Toro, Camilo;
    • Malicdan, May C.;
    • Introne, Wendy J.
    Publication type:
    Article
    6
    7

    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
    By:
    • Vilboux, Thierry;
    • Malicdan, May Christine V.;
    • Roney, Joseph C.;
    • Cullinane, Andrew R.;
    • Stephen, Joshi;
    • Yildirimli, Deniz;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Vemulapalli, Meghana;
    • Mullikin, James C.;
    • Steinbach, Peter J.;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
    8
    9
    10

    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

    Published in:
    2017
    By:
    • Barel, Ortal;
    • Malicdan, May Christine V.;
    • Ben-Zeev, Bruria;
    • Kandel, Judith;
    • Pri-Chen, Hadass;
    • Stephen, Joshi;
    • Castro, Inês G.;
    • Metz, Jeremy;
    • Atawa, Osama;
    • Moshkovitz, Sharon;
    • Ganelin, Eti;
    • Barshack, Iris;
    • Polak-Charcon, Sylvie;
    • Nass, Dvora;
    • Marek-Yagel, Dina;
    • Amariglio, Ninette;
    • Shalva, Nechama;
    • Vilboux, Thierry;
    • Ferreira, Carlos;
    • Pode-Shakked, Ben
    Publication type:
    journal article
    11

    cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
    By:
    • Kuptanon, Chulaluk;
    • Morimoto, Marie;
    • Nicoli, Elena-Raluca;
    • Stephen, Joshi;
    • Yarnell, David S.;
    • Dorward, Heidi;
    • Owen, William;
    • Parikh, Suhag;
    • Ozbek, Namik Yasar;
    • Malbora, Baris;
    • Ciccone, Carla;
    • Gunay-Aygun, Meral;
    • Gahl, William A.;
    • Introne, Wendy J.;
    • Malicdan, May Christine V.
    Publication type:
    Article
    12

    Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

    Published in:
    PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
    By:
    • Stephen, Joshi;
    • Yokoyama, Tadafumi;
    • Tolman, Nathanial J.;
    • O’Brien, Kevin J.;
    • Nicoli, Elena-Raluca;
    • Brooks, Brian P.;
    • Huryn, Laryssa;
    • Titus, Steven A.;
    • Adams, David R.;
    • Chen, Dong;
    • Gahl, William A.;
    • Gochuico, Bernadette R.;
    • Malicdan, May Christine V.
    Publication type:
    Article
    13
    14
    15
    16

    Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300
    By:
    • Garland, Jennifer;
    • Stephen, Joshi;
    • Class, Bradley;
    • Gruber, Angela;
    • Ciccone, Carla;
    • Poliak, Aaron;
    • Hayes, Christina P.;
    • Singhal, Vandana;
    • Slota, Christina;
    • Perreault, John;
    • Gavrilova, Ralitza;
    • Shrader, Joseph A.;
    • Chittiboina, Prashant;
    • Joe, Galen;
    • Heiss, John;
    • Gahl, William A.;
    • Huizing, Marjan;
    • Carrillo, Nuria;
    • Malicdan, May Christine V.
    Publication type:
    Article
    17
    18
    19

    Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

    Published in:
    Human Genetics, 2018, v. 137, n. 4, p. 293, doi. 10.1007/s00439-018-1882-3
    By:
    • Stephen, Joshi;
    • Nampoothiri, Sheela;
    • Banerjee, Aditi;
    • Tolman, Nathanial J.;
    • Penninger, Josef Martin;
    • Elling, Ullrich;
    • Agu, Chukwuma A.;
    • Burke, John D.;
    • Devadathan, Kalpana;
    • Kannan, Rajesh;
    • Huang, Yan;
    • Steinbach, Peter J.;
    • Martinis, Susan A.;
    • Gahl, William A.;
    • Malicdan, May Christine V.
    Publication type:
    Article
    20

    Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 399, doi. 10.1007/s00439-017-1765-z
    By:
    • Vilboux, Thierry;
    • Gahl, William;
    • Malicdan, May;
    • Gunay-Aygun, Meral;
    • Stephen, Joshi;
    • Kuptanon, Chulaluck;
    • Sinclair, Courtney;
    • Yildirimli, Deniz;
    • Maynard, Dawn;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Huizing, Marjan;
    • Mian, Luhe;
    • Vemulapalli, Meghana;
    • Mullikin, James
    Publication type:
    Article
    21