Katta Mohan Girisha
Overview
Explore the profile of Katta Mohan Girisha including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
69
Citations
856
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Le C, Argilli E, George E, Kalayci T, Uyguner Z, Karaman B, et al.
medRxiv
. 2024 Nov;
PMID: 39502664
encodes a Class II basic helix-loop-helix transcription factor (bHLH). It is expressed exclusively in the retina and central nervous system (CNS), and functions as an important regulator of retinogenesis and...
2.
Kaur N, do Rosario M, Majethia P, Mascarenhas S, Rao L, Nair K, et al.
Am J Med Genet A
. 2024 Oct;
197(3):e63914.
PMID: 39470296
Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical...
3.
Yeole M, Majethia P, Siddiqui S, Girisha K, Shukla A, Radhakrishnan P, et al.
Am J Med Genet A
. 2024 Sep;
197(2):e63892.
PMID: 39333057
Translocase of the outer mitochondrial membrane (TOMM) complex plays an important role in the transport of proteins from the cytoplasm into the mitochondria. TOMM7, one of the subunits of the...
4.
Kakar N, Rehman F, Kaur R, Bhavani G, Goyal M, Shah H, et al.
Clin Genet
. 2024 Feb;
106(1):47-55.
PMID: 38378010
Skeletal dysplasias (SKDs) are a heterogeneous group of more than 750 genetic disorders characterized by abnormal development, growth, and maintenance of bones or cartilage in the human skeleton. SKDs are...
5.
Majethia P, Kaur N, Mascarenhas S, Rao L, Pande S, Narayanan D, et al.
Clin Genet
. 2024 Feb;
105(6):639-654.
PMID: 38374498
The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing...
6.
Sithambaram S, Jacob P, Neethukrishna K, Bhavani G, Dalal A, Shah H, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63566.
PMID: 38357848
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome is a recently described skeletal ciliopathy, which is caused by disease-causing variants in PRKACA. The primary phenotypic description includes atrial septal defects, and limb...
7.
Purushothama G, Bhavani G, Shah H, Girisha K, Handattu K
Indian Pediatr
. 2024 Jan;
61(2):186-188.
PMID: 38217273
No abstract available.
8.
Pande S, Majethia P, Nair K, Rao L, Mascarenhas S, Kaur N, et al.
Eur J Hum Genet
. 2023 Dec;
32(10):1291-1298.
PMID: 38114583
The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well...
9.
Pande S, Mascarenhas S, Venkatraman A, Bhat V, Narayanan D, Siddiqui S, et al.
Am J Med Genet A
. 2023 Jun;
191(8):2175-2180.
PMID: 37337996
Heterozygous disease-causing variants in BCL11B are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported in one...
10.
do Rosario M, Purushothama G, Narayanan D, Siddiqui S, Girisha K, Shukla A
Clin Dysmorphol
. 2023 Mar;
32(3):112-115.
PMID: 36876340
No abstract available.