S. Aggarwal

发表

Electrical flash burns due to switchboard explosions in New South Wales--a 9-year experience.

S. Aggarwal, P. Maitz, P. Kennedy, 2011, Burns : journal of the International Society for Burn Injuries.

Cardiovascular Diseases of Genetic Etiology and Implications for the Pregnant Woman

S. Aggarwal, 2018, Indian Journal of Cardiovascular Disease in Women WINCARS.

Role of whole exome sequencing for unidentified genetic syndromes

S. Aggarwal, 2021, Current opinion in obstetrics & gynecology.

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

K. Mandal, S. Phadke, A. Dalal, 2019, Indian Pediatrics.

Counseling for Fetal Central Nervous System Defects

S. Aggarwal, 2017, Journal of Fetal Medicine.

Secondary Breast Augmentation.

S. Aggarwal, R. Somogyi, Mitchell H. Brown, 2016, Plastic and reconstructive surgery.

A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia

A. Dalal, D. Love, S. Aggarwal, 2014, Journal of child neurology.

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype

A. Dalal, S. Aggarwal, V. Venugopal, 2018, American journal of medical genetics. Part A.

Complex Cardiac Defect in a Fetus with Trisomy 18: A Case Report

S. Aggarwal, 2017, Indian Journal of Cardiovascular Disease in Women WINCARS.

A Case of Situs Ambiguous and Complex Cardiac Defect Presenting as Fetal Hydrops

S. Aggarwal, 2017, Indian Journal of Cardiovascular Disease in Women WINCARS.

Congenital Aortic Stenosis in a Fetus: A Case Report and Review of Syndromic Associations

S. Aggarwal, 2016, Indian Journal of Cardiovascular Disease in Women WINCARS.

Aetiologic spectrum of mental retardation & developmental delay in India

S. Phadke, K. Mandal, S. Aggarwal, 2012, The Indian journal of medical research.

Coffin–Siris syndrome is a SWI/SNF complex disorder

N. Matsumoto, Y. Makita, H. Ohashi, 2014, Clinical genetics.

Validation of the American Joint Committee on Cancer Staging in Squamous Cell Carcinoma of the Vermilion Lip

Jonathan R. Clark, S. Lo, S. Ch’ng, 2021, Annals of Surgical Oncology.

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

D. Smedley, F. Dhombres, M. Haendel, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

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

M. Kabra, S. Phadke, K. Mandal, 2021, Human mutation.

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.

A. Dalal, M. Prata, S. Aggarwal, 2014, Gene.

Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriages.

S. Phadke, S. Agrawal, S. Aggarwal, 2011, Reproductive biomedicine online.

Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.

S. Aggarwal, 2013, Gene.

Fetal phenotypes of Mendelian disorders: A descriptive study from India

V. S. Vineeth, A. Dalal, S. Aggarwal, 2022, Prenatal diagnosis.

Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.

Sanjeev Gupta, S. Aggarwal, J. Maras, 2012, European journal of medical genetics.

A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series

A. Dalal, S. Aggarwal, A. Tandon, 2018, Fetal and pediatric pathology.

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

V. S. Vineeth, A. Dalal, S. Aggarwal, 2018, Journal of Human Genetics.

Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics

S. Phadke, S. Aggarwal, Shubha R. Phadke, 2013, American journal of medical genetics. Part A.

GAPO syndrome with deafness: new feature or incidental finding?

A. Dalal, S. Aggarwal, A. Uttarilli, 2013, Clinical dysmorphology.

Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel

A. Dalal, S. Aggarwal, A. Tandon, 2019, Journal of Fetal Medicine.

Fetal Dysmorphology: An Indispensable Tool for Synthesis of Perinatal Diagnosis

S. Aggarwal, 2017 .

The Efficacy of a Manual Database System for Tracking Ureteric Stent Placement and Removal

H. Woo, S. Aggarwal, A. Brooks, 2011 .

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

S. Phadke, L. Atchaneeyasakul, S. Aggarwal, 2011, Molecular vision.

Medical genetics and genomic medicine in India: current status and opportunities ahead

S. Phadke, S. Aggarwal, 2015, Molecular genetics & genomic medicine.

Novel and recurrent mutations in WISP3 and an atypical phenotype

M. Kabra, S. Phadke, K. Girisha, 2015, American journal of medical genetics. Part A.

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

S. Kapoor, S. Phadke, K. Mandal, 2016, Clinical genetics.

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

A. Dalal, S. Aggarwal, U. Dutta, 2019, Journal of reproduction & infertility.

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

V. S. Vineeth, A. Dalal, S. Aggarwal, 2019, Prenatal diagnosis.

Recurrent and novel GLB1 mutations in India.

M. Kabra, S. Phadke, K. Girisha, 2015, Gene.

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, Neuromuscular Disorders.

Microsurgical scalp reconstruction and cranioplasty refined

Jonathan R. Clark, S. Ch’ng, S. Aggarwal, 2022, Australasian Journal of Plastic Surgery.

Fat Grafting: Its Role in Breast Reconstruction

S. Aggarwal, S. Aggarwala, 2017, Current Surgery Reports.

Genetics of Premature Ovarian Failure

Vijayalakshmi., S. Aggarwal, 2018 .

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Increased Lower Extremity Venous Stasis May Contribute to Deep Venous Thrombosis Formation after Microsurgical Breast Reconstruction—An Ultrasonographic Study

Michael G. Tecce, C. Pannucci, S. Kovach, 2016, Journal of Reconstructive Microsurgery.

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, Indian Journal of Pediatrics.

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.

A. Moirangthem, S. Phadke, S. Aggarwal, 2023, European journal of medical genetics.

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.

A. Dalal, S. Aggarwal, A. Tandon, 2018, European journal of medical genetics.

The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth.

S. Phadke, N. Kumari, S. Aggarwal, 2011, Clinical dysmorphology.

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

A. Dalal, L. Bicknell, S. Aggarwal, 2021, European journal of medical genetics.

Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis

A. Dalal, S. Aggarwal, A. Tandon, 2018, The journal of obstetrics and gynaecology research.

General Physical Examination for a Cardiovascular Patient

S. Aggarwal, J. Maddury, 2019, Indian Journal of Cardiovascular Disease in Women WINCARS.

Preeclampsia in North Indian women: the contribution of genetic polymorphisms

S. Aggarwal, S. Agarwal, I. Tandon, 2011, The journal of obstetrics and gynaecology research.

Bilateral anterior lens dislocation: the genetic perspective

S. Aggarwal, 2012, The Lancet.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.

D. Kelsell, A. Dalal, S. Aggarwal, 2015, Gene.

Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia

S. Aggarwal, G. Kolar, Neelam Saini, 2022, Molecular Syndromology.

Reconstruction of gluteal defects using free flaps.

S. Aggarwal, D. Pennington, 2013, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization

M. Missler, G. Mirzaa, M. Shoukier, 2021 .

Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization.

M. Missler, G. Mirzaa, M. Shoukier, 2020, Journal of neurochemistry.

Expanding spectrum of PCDH12 related phenotype begs exploration of multipronged pathomechanisms

S. Aggarwal, 2022, European Journal of Paediatric Neurology.

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

V. S. Vineeth, A. Dalal, S. Aggarwal, 2018, Journal of Human Genetics.

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

A. Dalal, S. Aggarwal, A. Bahal, 2016, European journal of medical genetics.

Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum

V. S. Vineeth, A. Dalal, S. Aggarwal, 2022, American journal of medical genetics. Part A.

Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!

A. Dalal, P. Ranganath, S. Aggarwal, 2022, Fetal and pediatric pathology.

Intracardiac echogenic focus and fetal outcome

S. Phadke, S. Aggarwal, Geetika Gupta, 2010, Journal of clinical ultrasound : JCU.

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

M. Kabra, S. Phadke, A. Dalal, 2019, Journal of Human Genetics.

Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease

M. Kabra, S. Phadke, K. Mandal, 2017 .

Corrigendum to: Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients with Acid Sphingomyelinase Deficient Niemann–Pick Disease (Am J Med Genet A., (2016), 170A, 10, 2719-2730, 10.1002/ajmg.a.37817)

M. Kabra, S. Phadke, K. Mandal, 2017 .

Ghosal hematodiaphyseal dysplasia—a concise review including an illustrative patient

R. Arora, S. Aggarwal, S. Deme, 2015, Skeletal Radiology.

Effect of Deep Cervical Flexor Training vs. Conventional Isometric Training on Forward Head Posture, Pain, Neck Disability Index In Dentists Suffering from Chronic Neck Pain.

S. Aggarwal, N. Gupta, B. Gupta, 2013, Journal of clinical and diagnostic research : JCDR.

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study

A. Dalal, R. Borgohain, S. Aggarwal, 2022, Neurology India.

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2018, American Journal of Medical Genetics. Part A.

Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease

M. Kabra, S. Phadke, K. Mandal, 2016, American journal of medical genetics. Part A.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

A. Dalal, S. Aggarwal, A. Bahal, 2016, European journal of medical genetics.

Reconstruction of gluteal defects using free flaps.

S. Aggarwal, D. Pennington, 2013, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis

T. Sparks, M. Pauta, K. Gilmore, 2023, Prenatal diagnosis.

V. S. Vineeth, S. Aggarwal, R. Bhandari, 2023, medRxiv.

Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (–T) at codon 69 in association with IVS 1‐5 (G>C) mutation

S. Phadke, S. Aggarwal, A. Dalal, 2012, International journal of laboratory hematology.

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

S. Phadke, L. Atchaneeyasakul, S. Aggarwal, 2011, Molecular vision.