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

nork Hebbar, Malavika, Girisha, Katta M, Shukla, Anju
Argitaratua izan da BMJ Case Rep (2016)

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

nork Shukla, Anju, Kaur, Parneet, Girisha, Katta M.
Argitaratua izan da J Pediatr Genet (2018)

Introducing in AJMG Part A: Case Reports in Diverse Populations

nork Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian
Argitaratua izan da Am J Med Genet A (2018)

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

nork Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
Argitaratua izan da 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

nork Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M
Argitaratua izan da Indian J Dermatol (2016)

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

nork Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.
Argitaratua izan da J Pediatr Genet (2012)

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

nork Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.
Argitaratua izan da 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

nork Vasudeva, Akhila, Nayak, Shalini S, Kadavigere, Rajagopal, Girisha, Katta M, Shetty, Jyothi
Argitaratua izan da J Clin Diagn Res (2015)

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

nork Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
Argitaratua izan da Indian J Dermatol (2016)

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

nork Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Argitaratua izan da J Hum Genet (2018)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

nork Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Argitaratua izan da J Hum Genet (2018)

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

nork Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju
Argitaratua izan da 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

nork Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.
Argitaratua izan da Clin Genet (2023)

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

nork Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.
Argitaratua izan da J Pediatr Genet (2017)

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

nork Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
Argitaratua izan da 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

nork Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
Argitaratua izan da 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

nork Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
Argitaratua izan da BMC Res Notes (2017)

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

nork Nayak, Shalini S., Harkness, Robert, Shukla, Anju, Banka, Siddharth, Newman, William G., Girisha, Katta M.
Argitaratua izan da Am J Med Genet A (2023)

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

nork Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Shukla, Anju, Bhavani, Gandham SriLakshmi, Girisha, Katta M.
Argitaratua izan da Am J Med Genet A (2024)

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

nork Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.
Argitaratua izan da J Pediatr Genet (2017)