Christian Medical College Vellore, Ida Scudder Road, Vellore – 632004, Tamil Nadu, India
Publications
Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome
Neonatal hearing screening–experience from a tertiary care hospital in southern India
Van der Woude Syndrome: IRF6 Mutations
Gaucher Disease Presenting in an Adult with Intracerebral Bleed
Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome
Neonatal hearing screening–experience from a tertiary care hospital in southern India
Van der Woude Syndrome: IRF6 Mutations
Gaucher Disease Presenting in an Adult with Intracerebral Bleed
Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis
Endovascular management of carotid-cavernous fistula in Ehlers-Danlos syndrome Type IV
Tel Hashomer camptodactyly syndrome: a case report
Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype
High expression of S100 calgranulin genes in peripheral blood mononuclear cells from patients with Takayasu arteritis
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1
Interleukin-17F and interleukin-6 gene polymorphisms in Asian Indian patients with Takayasu arteritis.
C-reactive protein gene polymorphisms (rs1205) in Asian Indian patients with Takayasu arteritis: Associations and phenotype correlations
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
Tel Hashomercamptodactyly syndrome: a case report.
Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study
Van der Woude Syndrome: IRF6 Mutations
Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis.
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study
Late diagnosis of cystic fibrosis after first decade of life: Clinical observations of a milder phenotype in India
Restrictive Dermopathy.
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India
Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis
Novel imag Novel imaging finding and novel mutation in an infant with molybdenum cofactor deficiency, a mimicker of hypoxic-ischaemic encephalopathy
Tumour necrosis factor (TNF)-α-308 gene polymorphism in Indian patients with Takayasu's arteritis – a pilot study.
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
Prenatal diagnosis in India is not limited to sex selection.
Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia
Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Genome-Wide DNA Methylation Profiling in CD8 T-Cells and Gamma Delta T-Cells of Asian Indian Patients With Takayasu Arteritis
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families
Gallstones in a patient with homocystinuria.
NLRP7 Mutation in Recurrent Non-familial Molar Pregnancies: A Case Series
First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with vitamin B12 deficiency and adverse perinatal outcomes among pregnant women of rural South India – a cross sectional longitudinal study.
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype
Menkes disease and response to copper histidine: An Indian case series
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
An Inherited Cause of Stroke Mimic in a Toddler
Novel mutation in the nuclear receptor subfamily 0, group B, member 1 ( NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India
Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort.
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
Unusual MRI findings in 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1
Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations.
Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency.
Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.
Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Treatable Neurometabolic Disorder.
An Unusual Case of BSND Gene-Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
SGCE Myoclonus-Dystonia: An Inherited Movement Disorder
First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency.
Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
SGCE Myoclonus-Dystonia: An Inherited Movement Disorder
Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus
An Inherited Cause of Stroke Mimic in a Toddler.
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review
Importance of screening for splice site and deep intronic variants—Insights from cystic fibrosis genetic testing on patients from the Indian subcontinent
Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Development and dysmorphism in Joubert syndrome–short case series from India.
An unusual case of keratinopathic icthyosis: a diagnostic conundrum
PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.
Spectrum of Chromosomal Abnormalities Detected by Conventional Cytogenetic Analysis Following Invasive Prenatal Testing of Fetuses with Abnormal Ultrasound Scans
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Clinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study.
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.
Eye signs in a child with ROBO3 gene mutation.
Successful Outcome of Pregnancy in Niemann-Pick Disease Type B: A Case Report and Review of Literature.
Oculodigital Sign: A Clinical Clue for Diagnosis.
Fumaric Aciduria: A Rare Cause of Refractory Epilepsy.
Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study.
Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder.
Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder.
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India
Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature
Juvenile ankylosing spondylitis in Turner syndrome
Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.
MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder.
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort.
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
Authors' response
Homozygous CARD14 variant presenting as infantile erythroderma.
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India
High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia
SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India
A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France.
Exploring the clinical utility of exome sequencing/mono, duo, trio in prenatal testing: a retrospective study in a tertiary care centre in south India.
