Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis

by Smrithi Salian, Ashish Gupta, Anju Shukla, Katta M Girisha
Published 2016-01-01

Middle Interhemispheric Variant of Holoprosencephaly – Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus

by Akhila Vasudeva, Shalini S Nayak, Rajagopal Kadavigere, Katta M Girisha, Jyothi Shetty
Published 2015-09-01

Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

by Swathi Sunil Rao, Rathika D Shenoy, Smrithi Salian, Katta M Girisha
Published 2016-01-01

Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion

by Harsha Prasada Lashkari, Naga Venkata Sirisha Andey, Nanda Kumar, Katta M. Girisha
Published 2021-06-01

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin

by Jimmy F. Zhang, Francis James, Anju Shukla, Katta M. Girisha, Alex R. Paciorkowski
Published 2017-06-01

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

by Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
Published 2018-09-01

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

by Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M. Girisha, Shiro Ikegawa
Published 2021-04-01

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

by Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth
Published 2019-02-01

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

by Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche
Published 2021-01-01