Works by SHUKLA, ANJU

Results: 104
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    Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663
    By:
    • Radhakrishnan, Periyasamy;
    • Quadri, Neha;
    • Erger, Florian;
    • Fuhrmann, Nico;
    • Geist, Otilia‐Maria;
    • Netzer, Christian;
    • Khyriem, Ibakordor;
    • Muranjan, Mamta;
    • Udani, Vrajesh;
    • Yeole, Mayuri;
    • Mascarenhas, Selinda;
    • Limaye, Sanket;
    • Siddiqui, Shahyan;
    • Upadhyai, Priyanka;
    • Shukla, Anju
    Publication type:
    Article
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    Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 3, p. 398, doi. 10.1111/cge.13468
    By:
    • Somashekar, Puneeth H.;
    • Girisha, Katta M.;
    • Shukla, Anju;
    • Lewis, Leslie E. S.;
    • Shailaja, Shenoy;
    • Nampoothiri, Sheela;
    • Gowrishankar, Kalpana;
    • Devi, Radha R.;
    • Gupta, Neerja;
    • Narayanan, Dhanya L.;
    • Kaur, Anupriya;
    • Bajaj, Shruti;
    • Jagadeesh, Sujatha
    Publication type:
    Article
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    From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70025
    By:
    • Degoutin, Manon;
    • Angelini, Chloé;
    • Bar, Claire;
    • El Khedoud, Wahiba Amer;
    • Barnerias, Christine;
    • Boulariah‐Hadjou, Razika;
    • Estiar, Mehrdad A.;
    • Ewenczyk, Claire;
    • Gan‐Or, Ziv;
    • Lacombe, Didier;
    • Lefeuvre, Claire;
    • Majethia, Purvi;
    • Messaoud‐Khelifi, Mouna;
    • Narayanan, Dhanya Lakshmi;
    • Rouleau, Guy A.;
    • Suchowersky, Oksana;
    • Shukla, Anju;
    • Guillaud‐Bataille, Marine;
    • Stevanin, Giovanni;
    • Goizet, Cyril
    Publication type:
    Article
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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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    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