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

Por Hebbar, Malavika, Girisha, Katta M, Shukla, Anju
Publicado no BMJ Case Rep (2016)

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

Por Shukla, Anju, Kaur, Parneet, Girisha, Katta M.
Publicado no J Pediatr Genet (2018)

Introducing in AJMG Part A: Case Reports in Diverse Populations

Por Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian
Publicado no Am J Med Genet A (2018)

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

Por Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
Publicado no 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

Por Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M
Publicado no Indian J Dermatol (2016)

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

Por Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.
Publicado no J Pediatr Genet (2012)

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

Por Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.
Publicado no 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

Por Vasudeva, Akhila, Nayak, Shalini S, Kadavigere, Rajagopal, Girisha, Katta M, Shetty, Jyothi
Publicado no J Clin Diagn Res (2015)

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

Por Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
Publicado no Indian J Dermatol (2016)

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

Por Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Publicado no J Hum Genet (2018)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

Por Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Publicado no J Hum Genet (2018)

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

Por Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju
Publicado no 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

Por Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.
Publicado no Clin Genet (2023)

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

Por Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.
Publicado no J Pediatr Genet (2017)

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

Por Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
Publicado no 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

Por Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
Publicado no 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

Por Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
Publicado no BMC Res Notes (2017)

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

Por Nayak, Shalini S., Harkness, Robert, Shukla, Anju, Banka, Siddharth, Newman, William G., Girisha, Katta M.
Publicado no Am J Med Genet A (2023)

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

Por Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Shukla, Anju, Bhavani, Gandham SriLakshmi, Girisha, Katta M.
Publicado no Am J Med Genet A (2024)

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

Por Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.
Publicado no J Pediatr Genet (2017)