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Shagun Aggarwal

Nizam's Institute of Medical Sciences
Centre for DNA Fingerprinting and Diagnostics

54

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334

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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

2021 Human Mutation
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A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

2021 European Journal of Medical Genetics
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The Decaf (Dyspnea,Eosinopenia,Consolidation, Acidemia,Atrial Fibrillation) Score In Prediction Of Hospital Mortality In Acute Exacerbation Of Chronic Obstructive Pulmonary Airway Disease:

2021
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Role of whole exome sequencing for unidentified genetic syndromes

2021 Current Opinion in Obstetrics & Gynecology
- Shagun Aggarwal
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Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization.

2020 Journal of Neurochemistry
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Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS

2019 JOURNAL OF REPRODUCTION AND INFERTILITY
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Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

2019 Indian Pediatrics
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Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

2019 Indian Pediatrics
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Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

2019 Journal of Human Genetics
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General Physical Examination for a Cardiovascular Patient

2019
- Jyotsna Maddury
- Shagun Aggarwal
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