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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Delle Vedove A, et al. Among authors: girisha km. Am J Hum Genet. 2016 Nov 3;99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. Epub 2016 Oct 27. Am J Hum Genet. 2016. PMID: 27843126 Free PMC article.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. Schepers D, et al. Among authors: girisha km. Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736733 Free PMC article.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: girisha km. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036
Clinical utility of fetal autopsy and its impact on genetic counseling.
Nayak SS, Shukla A, Lewis L, Kadavigere R, Mathew M, Adiga PK, Vasudeva A, Kumar P, Shetty J, Shah H, Girisha KM. Nayak SS, et al. Among authors: girisha km. Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25763538
276 results