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Author Details

Shagun Aggarwal
Nizam's Institute of Medical Sciences
2010
64
15
PMIDPaper TitleJournal TitlePublished Year
38054560Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Prenat Diagn2024
36271814Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.Am J Med Genet A2023
37861627Identification of three novel mutations in <i>SLCO2A1</i> in Asian-Indians with Pachydermoperiostosis.Indian J Med Res2023
35380090Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!Fetal Pediatr Pathol2023
36801247Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.Eur J Med Genet2023
34989141Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.Am J Med Genet A2022
35587316Fetal phenotypes of Mendelian disorders: A descriptive study from India.Prenat Diagn2022
36588762Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.Mol Syndromol2022
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
35864621Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.Neurol India2022
34998686Expanding spectrum of PCDH12 related phenotype begs exploration of multipronged pathomechanisms.Eur J Paediatr Neurol2022
35298084Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.Am J Med Genet A2022
33090494Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.J Neurochem2021
33620889Role of whole exome sequencing for unidentified genetic syndromes.Curr Opin Obstet Gynecol2021
33639314A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.Eur J Med Genet2021
34273913Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.Hum Mutat2021
33389299Validation of the American Joint Committee on Cancer Staging in Squamous Cell Carcinoma of the Vermilion Lip.Ann Surg Oncol2021
32651481Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.J Hum Genet2020
31742715Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.Prenat Diagn2020
30674982Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.J Hum Genet2019
31884430Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children.Indian Pediatr2019
31191208Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?Mol Syndromol2019
31058056Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS.J Reprod Infertil2019
30459466Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet2019
29227033Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.Am J Med Genet A2018
30058238Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis.J Obstet Gynaecol Res2018
29501612Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.Eur J Med Genet2018
29575617Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.Am J Med Genet A2018
29336636A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.Fetal Pediatr Pathol2018
27894155Increased Lower Extremity Venous Stasis May Contribute to Deep Venous Thrombosis Formation after Microsurgical Breast Reconstruction-An Ultrasonographic Study.J Reconstr Microsurg2017
26104111Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.Indian J Pediatr2016
27146977Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.Clin Genet2016
27348674Secondary Breast Augmentation.Plast Reconstr Surg2016
27521129Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.Neuromuscul Disord2016
27338287Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.Am J Med Genet A2016
26689621Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.Eur J Med Genet2016
27108999A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.Am J Med Genet A2016
25172219Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.Skeletal Radiol2015
26172087Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.Am J Med Genet A2015
25988854Novel and recurrent mutations in WISP3 and an atypical phenotype.Am J Med Genet A2015
25936995Recurrent and novel GLB1 mutations in India.Gene2015
26029702Medical genetics and genomic medicine in India: current status and opportunities ahead.Mol Genet Genomic Med2015
25479012Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.Gene2015
25356971Prenatal diagnosis in India is not limited to sex selection.Genet Med2015
23349517A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.J Child Neurol2014
24685522Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.Gene2014
23815551Coffin-Siris syndrome is a SWI/SNF complex disorder.Clin Genet2014
23294832Reconstruction of gluteal defects using free flaps.J Plast Reconstr Aesthet Surg2013
24326960GAPO syndrome with deafness: new feature or incidental finding?Clin Dysmorphol2013
24298492Effect of Deep Cervical Flexor Training vs. Conventional Isometric Training on Forward Head Posture, Pain, Neck Disability Index In Dentists Suffering from Chronic Neck Pain.J Clin Diagn Res2013
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Collaborators

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Co-authored papers 2
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Co-authored papers 2
Armand Trousseau Hospital, Sorbonne University
Co-authored papers 1
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Co-authored papers 1
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Co-authored papers 1
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 1
Seattle Children's Hospital.
Co-authored papers 1
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
University of Colorado Anschutz Medical Campus
Co-authored papers 1
Co-authored papers 1
Massachusetts General Hospital
Co-authored papers 1
Liverpool Women's NHS Foundation Trust
Co-authored papers 1
University Hospital of Lyon and Soffoet
Co-authored papers 1
Institute of Medical Genetics and Applied Genomics, University of Tuebingen
Co-authored papers 1
Nationwide Children's Hospital
Co-authored papers 1
Co-authored papers 1
DOE Joint Genome Institute, Lawrence Berkeley National Laboratory
Co-authored papers 1
Critical Path Institute
Co-authored papers 1
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William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 1
Baylor College of Medicine
Co-authored papers 1
Institute of Medical and Molecular Genetics
Co-authored papers 1
St George's University of London, Molecular and Clinical Sciences Research Institute
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University of Medicine and Pharmacy of Craiova
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Sorbonne University, INSERM
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Macquarie University Hospital
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Azienda USL-IRCCS di Reggio Emilia
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Hopital Universitaire de Nantes
Co-authored papers 1