Works by Shukla, Anju

Results: 103
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    Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

    Published in:
    Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01158-w
    By:
    • Sheikh, Taimoor I.;
    • Vasli, Nasim;
    • Pastore, Stephen;
    • Kharizi, Kimia;
    • Harripaul, Ricardo;
    • Fattahi, Zohreh;
    • Pande, Shruti;
    • Naeem, Farooq;
    • Hussain, Abrar;
    • Mir, Asif;
    • Islam, Omar;
    • Girisha, Katta Mohan;
    • Irfan, Muhammad;
    • Ayub, Muhammad;
    • Schwarzer, Christoph;
    • Najmabadi, Hossein;
    • Shukla, Anju;
    • Sladky, Valentina C.;
    • Braun, Vincent Zoran;
    • Garcia-Carpio, Irmina
    Publication type:
    Article
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    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
    By:
    • Kausthubham, Neethukrishna;
    • Shukla, Anju;
    • Gupta, Neerja;
    • Bhavani, Gandham S.;
    • Kulshrestha, Samarth;
    • Das Bhowmik, Aneek;
    • Moirangthem, Amita;
    • Bijarnia‐Mahay, Sunita;
    • Kabra, Madhulika;
    • Puri, Ratna D.;
    • Mandal, Kausik;
    • Verma, Ishwar C.;
    • Bielas, Stephanie L.;
    • Phadke, Shubha R.;
    • Dalal, Ashwin;
    • Girisha, Katta M.
    Publication type:
    Article
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    Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80755-7
    By:
    • Nayak, Shalini S.;
    • Schneeberger, Pauline E.;
    • Patil, Siddaramappa J.;
    • Arun, Karegowda M.;
    • Suresh, Pujar V.;
    • Kiran, Viralam S.;
    • Siddaiah, Sateesh;
    • Maiya, Shreesha;
    • Venkatachalagupta, Shrikanth K.;
    • Kausthubham, Neethukrishna;
    • Kortüm, Fanny;
    • Rau, Isabella;
    • Wey-Fabrizius, Alexandra;
    • Van Den Heuvel, Lotte;
    • Meester, Josephina;
    • Van Laer, Lut;
    • Shukla, Anju;
    • Loeys, Bart;
    • Girisha, Katta M.;
    • Kutsche, Kerstin
    Publication type:
    Article
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    Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091
    By:
    • Dupont, Marie Alice;
    • Humbert, Camille;
    • Huber, Céline;
    • Siour, Quentin;
    • Guerrera, Ida Chiara;
    • Jung, Vincent;
    • Christensen, Anni;
    • Pouliet, Aurore;
    • Garfa-Traoré, Meriem;
    • Nitschké, Patrick;
    • Injeyan, Marie;
    • Millar, Kathryn;
    • Chitayat, David;
    • Shannon, Patrick;
    • Girisha, Katta Mohan;
    • Shukla, Anju;
    • Mechler, Charlotte;
    • Lorentzen, Esben;
    • Benmerah, Alexandre;
    • Cormier-Daire, Valérie
    Publication type:
    Article
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    Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

    Published in:
    Human Genetics, 2025, v. 144, n. 1, p. 55, doi. 10.1007/s00439-024-02718-6
    By:
    • Kakar, Naseebullah;
    • Mascarenhas, Selinda;
    • Ali, Asmat;
    • Azmatullah;
    • Ijlal Haider, Syed M.;
    • Badiger, Vaishnavi Ashok;
    • Ghofrani, Mobina Shadman;
    • Kruse, Nathalie;
    • Hashmi, Sohana Nadeem;
    • Pozojevic, Jelena;
    • Balachandran, Saranya;
    • Toft, Mathias;
    • Malik, Sajid;
    • Händler, Kristian;
    • Fatima, Ambrin;
    • Iqbal, Zafar;
    • Shukla, Anju;
    • Spielmann, Malte;
    • Radhakrishnan, Periyasamy
    Publication type:
    Article
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    Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566
    By:
    • Jacob, Prince;
    • Bhavani, Gandham Sri Lakshmi;
    • Shah, Hitesh;
    • Galada, Chelna;
    • Nampoothiri, Sheela;
    • Kamath, Nutan;
    • Phadke, Shubha R.;
    • Muranjan, Mamta;
    • Datar, Chaitanya A.;
    • Shukla, Anju;
    • Girisha, Katta M.
    Publication type:
    Article
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