Shagun Aggarwal

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Duchenne Muscular Dystrophy

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Prenatal diagnosis

Fetal and pediatric pathology

This page only lists publications with an associated author ORCID identifier.

Publications

Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Dalal, Rashna Bhandari
SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Clinical genetics 106 (3) (2024)
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Dalal, Rashna Bhandari
SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Clinical genetics (2024)
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Dalal, Rashna Bhandari
SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Clinical genetics 106 (3) (2024)
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, Caitlin D Baptiste, Heinz Gabriel, Teresa N Sparks, Yuval Yaron, Mary E Norton, Karin E M Diderich, Yiming Wang, Karen Chong, David Chitayat, Neelam Saini, Shagun Aggarwal, Montse Pauta, Antoni Borrell, Kelly Gilmore, Natalie Jane Chandler, Stephanie K Allen, Neeta L Vora, Abdul Noor, Caitriona Monaghan, Mark David Kilby, Ronald J Wapner, Lyn S Chitty, Fionnuala Mone
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis. Prenatal diagnosis (2023)
Priya Ranganath, Vineeth Vs, Ikromi Rungsung, Ashwin B Dalal, Shagun Aggarwal
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey! Fetal and pediatric pathology (2022)
Vijaya Sree Venkatapuram, Shagun Aggarwal, Aditya Deepak Kulkarni, Venugopal Satidevi Vineeth, Ashwin B Dalal, Venkatraman Bhat, Lavanya Kiran, Siddaramappa Jagdish Patil
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants. American journal of medical genetics. Part A 188 (4) (2022)
Neelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, Vijayasree Venkatapuram, Shaik Afshan Jabeen, Karthik Tallapaka, Ashwin B Dalal, Shagun Aggarwal
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome. American journal of medical genetics. Part A (2022)
Neelam Saini, Vijaya Sree Venkatapuram, Venugopal Satidevi Vineeth, Aditya Kulkarni, Ashwani Tandon, Gayatri Koppolu, Siddaramappa Jagdish Patil, Ashwin Dalal, Shagun Aggarwal
Fetal phenotypes of Mendelian disorders: A descriptive study from India. Prenatal diagnosis 42 (7) (2022)
Gayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, Lekshmi Nair, Ashwin Dalal, Shagun Aggarwal
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum. American journal of medical genetics. Part A 188 (7) (2022)
Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, Prajnya Ranganath, Jamal Md Nurul Jain S, Jayesh Sheth, Mehul Mistri, Neerja Gupta, Madhulika Kabra, Shubha R Phadke, Katta M Girisha, Ratna Dua Puri, Shagun Aggarwal, Chaitanya Datar, Kausik Mandal, Preetha Tilak, Mamta Muranjan, Sunita Bijarnia-Mahay, Radharamadevi Akella, Naresh B Tayade, Akash Ranjan, Ashwin B Dalal
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. Human mutation 42 (10) (2021)
Shagun Aggarwal, Venugopal Satidevi Vineeth, Aneek Das Bhowmik, Ashwani Tandon, Aditya Kulkarni, Dhanya Lakshmi Narayanan, Amrita Bhattacherjee, Ashwin Dalal
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping. Prenatal diagnosis 40 (2) (2019)
Karthik Tallapaka, Vineeth Venugopal, Ashwin B Dalal, Shagun Aggarwal
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. American journal of medical genetics. Part A 176 (4) (2019)
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series. Fetal and pediatric pathology 37 (1) (2018)
Aneek Das Bhowmik, Ashwin Dalal, Ashwani Tandon, Shagun Aggarwal
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. The journal of obstetrics and gynaecology research 44 (12) (2018)
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Ashwin Dalal
Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. American journal of medical genetics. Part A 176 (2) (2017)