Shahyan Siddiqui
Overview
Explore the profile of Shahyan Siddiqui including associated specialties, affiliations and a list of published articles.
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17
Citations
54
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Recent Articles
1.
Radhakrishnan P, Quadri N, Erger F, Fuhrmann N, Geist O, Netzer C, et al.
Clin Genet
. 2024 Dec;
107(3):311-322.
PMID: 39638757
Leucine - rich repeat containing 45 protein (LRRC45) protein localizes at the proximal end of centrioles and forms a component of the proteinaceous linker between them, with an important role...
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.
Werren E, Bey G, Majethia P, Kaur P, Patil S, Kekatpure M, et al.
Brain
. 2024 Sep;
147(12):4033-4042.
PMID: 39292993
Erythrocyte membrane protein band 4.1 like 3 (EPB41L3: NM_012307.5), also known as DAL1, encodes the ubiquitously expressed, neuronally enriched 4.1B protein, part of the 4.1 superfamily of membrane-cytoskeleton adaptors. The...
5.
Mascarenhas S, Yeole M, Rao L, do Rosario M, Majethia P, Nair K, et al.
Clin Dysmorphol
. 2024 Aug;
33(4):160-166.
PMID: 39140381
Introduction: Biallelic variants in thiamine pyrophosphokinase 1 ( TPK1 ) are known to cause thiamine metabolism dysfunction syndrome 5 (THMD5). This disorder is characterized by neuroregression, ataxia and dystonia with...
6.
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...
7.
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...
8.
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...
9.
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.
10.
Samim M, Dhar D, Goyal S, Dey T, Parvin N, Shah R, et al.
J Clin Neurol
. 2022 Nov;
18(6):692-710.
PMID: 36367067
Background And Purpose: Autoimmune encephalitis (AIE) following coronavirus disease 2019 (COVID-19) is an underexplored condition. This study aims to systematically review the clinico-investigational and pathophysiologic aspects of COVID-19 and its...