Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2

od Hebbar, Malavika, Girisha, Katta M, Shukla, Anju
izdano v BMJ Case Rep (2016)

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

od Shukla, Anju, Kaur, Parneet, Girisha, Katta M.
izdano v J Pediatr Genet (2018)

Introducing in AJMG Part A: Case Reports in Diverse Populations

od Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian
izdano v Am J Med Genet A (2018)

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature

od Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
izdano v BMJ Case Rep (2015)

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis

od Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M
izdano v Indian J Dermatol (2016)

Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

od Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.
izdano v J Pediatr Genet (2012)

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

od Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.
izdano v J Pediatr Genet (2017)

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

od Vasudeva, Akhila, Nayak, Shalini S, Kadavigere, Rajagopal, Girisha, Katta M, Shetty, Jyothi
izdano v J Clin Diagn Res (2015)

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant

od Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
izdano v Indian J Dermatol (2016)

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

od Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
izdano v J Hum Genet (2018)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

od Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
izdano v J Hum Genet (2018)

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia

od Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju
izdano v Eur J Med Genet (2017)

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

od Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.
izdano v Clin Genet (2023)

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

od Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.
izdano v J Pediatr Genet (2017)

A Neurodegenerative Mitochondrial Disease Phenotype Due to Biallelic Loss-of-function Variants in PNPLA8 Encoding Calcium-independent Phospholipase A2γ

od Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
izdano v Am J Med Genet A (2018)

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

od Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
izdano v Eur J Med Genet (2018)

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

od Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
izdano v BMC Res Notes (2017)

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

od Nayak, Shalini S., Harkness, Robert, Shukla, Anju, Banka, Siddharth, Newman, William G., Girisha, Katta M.
izdano v Am J Med Genet A (2023)

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

od Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Shukla, Anju, Bhavani, Gandham SriLakshmi, Girisha, Katta M.
izdano v Am J Med Genet A (2024)

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

od Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.
izdano v J Pediatr Genet (2017)