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

di Hebbar, Malavika, Girisha, Katta M, Shukla, Anju
Pubblicato in BMJ Case Rep (2016)

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

di Shukla, Anju, Kaur, Parneet, Girisha, Katta M.
Pubblicato in J Pediatr Genet (2018)

Introducing in AJMG Part A: Case Reports in Diverse Populations

di Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian
Pubblicato in Am J Med Genet A (2018)

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

di Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
Pubblicato in 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

di Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M
Pubblicato in Indian J Dermatol (2016)

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

di Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.
Pubblicato in J Pediatr Genet (2012)

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

di Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.
Pubblicato in 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

di Vasudeva, Akhila, Nayak, Shalini S, Kadavigere, Rajagopal, Girisha, Katta M, Shetty, Jyothi
Pubblicato in J Clin Diagn Res (2015)

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

di Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
Pubblicato in Indian J Dermatol (2016)

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

di Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Pubblicato in J Hum Genet (2018)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

di Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Pubblicato in J Hum Genet (2018)

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

di Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju
Pubblicato in 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

di Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.
Pubblicato in Clin Genet (2023)

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

di Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.
Pubblicato in J Pediatr Genet (2017)

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

di Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
Pubblicato in 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

di Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
Pubblicato in 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

di Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
Pubblicato in BMC Res Notes (2017)

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

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

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

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

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

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