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

מאת Hebbar, Malavika, Girisha, Katta M, Shukla, Anju
הוצא לאור ב BMJ Case Rep (2016)

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

מאת Shukla, Anju, Kaur, Parneet, Girisha, Katta M.
הוצא לאור ב J Pediatr Genet (2018)

Introducing in AJMG Part A: Case Reports in Diverse Populations

מאת Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian
הוצא לאור ב Am J Med Genet A (2018)

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

מאת Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
הוצא לאור ב 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

מאת Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M
הוצא לאור ב Indian J Dermatol (2016)

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

מאת Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.
הוצא לאור ב J Pediatr Genet (2012)

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

מאת Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.
הוצא לאור ב 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

מאת Vasudeva, Akhila, Nayak, Shalini S, Kadavigere, Rajagopal, Girisha, Katta M, Shetty, Jyothi
הוצא לאור ב J Clin Diagn Res (2015)

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

מאת Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
הוצא לאור ב Indian J Dermatol (2016)

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

מאת Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
הוצא לאור ב J Hum Genet (2018)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

מאת Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
הוצא לאור ב J Hum Genet (2018)

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

מאת Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju
הוצא לאור ב 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

מאת Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.
הוצא לאור ב Clin Genet (2023)

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

מאת Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.
הוצא לאור ב J Pediatr Genet (2017)

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

מאת Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
הוצא לאור ב 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

מאת Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
הוצא לאור ב 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

מאת Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
הוצא לאור ב BMC Res Notes (2017)

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

מאת Nayak, Shalini S., Harkness, Robert, Shukla, Anju, Banka, Siddharth, Newman, William G., Girisha, Katta M.
הוצא לאור ב Am J Med Genet A (2023)

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

מאת Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Shukla, Anju, Bhavani, Gandham SriLakshmi, Girisha, Katta M.
הוצא לאור ב Am J Med Genet A (2024)

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

מאת Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.
הוצא לאור ב J Pediatr Genet (2017)