Publications & Newsletters

Clinical and Molecular Diagnosis of Joubert
Syndrome and Related

Radha Rama Devi A, Naushad SM, Lingappa L.

Abstract : Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.

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Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene

Radha Rama Devi A, Kadali S, Radhika A, Singh V, Kumar MA, Reddy GM, Naushad SM.

Abstract : This is the first reported case of prosaposin ( PSAP ) mutation from India manifesting as an acute neuronal Gaucher disease-like condition.

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Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.

Radha Rama Devi A, Naushad SM.

Abstract : In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths

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Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Kadali S, Naushad SM, Radha Rama Devi A, Bodiga VL.

Abstract : This study was aimed to construct classification and regression tree (CART) model of glycosaminoglycans (GAGs) for the differential diagnosis of Mucopolysaccharidoses (MPS).

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Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

Subhashini P, Jaya Krishna S, Usha Rani G, Sushma Chander N, Maheshwar Reddy G, Naushad SM.

Abstract : We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis

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Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.

Kadali S, Madalasa T, Reddy GM, Naushad SM.

Abstract : Plasma chitotriosidase is a documented biomarker for certain lysosomal storage disorders. However, its clinical utility for prenatal samples is not elucidated yet.We have established Reference intervals for amniotic fluid chitotriosidase .

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Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.

Radha Rama Devi A, Lingappa L, Naushad SM.

Abstract : In this study, we report three cases of nonketotic hyperglycinemia (NKHG) diagnosed biochemically and molecularly.Clinical exome analysis in two families revealed two novel mutations

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SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.

Radha Rama Devi A, Naushad SM.

Abstract : Here, we report SLC25A13 c.1610_1612delinsAT mutation from India in a 13-year old boy who presented with recurrent episodes of delirium and hyperammonemia.

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Adaptive developmental plasticity in methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism limits its frequency in South Indians.

Naushad SM1, Krishnaprasad C, Devi AR.

Abstract : Methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism shows considerable heterogeneity in its distribution.

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Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

Devi AR, Naushad SM

Abstract : In view of high incidence of methylmalonic aciduria (MMA) among South Indians, we have performed clinical, biochemical and molecular genetic evaluation of fifteen patients.

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Autistic children exhibit distinct plasma amino acid profile.

Naushad SM, Jain JM, Prasad CK, Naik U, Akella RR.

Abstract : In order to ascertain whether autistic children display characteristic metabolic signatures that are of diagnostic value plasma amino acid analyses were carried out on a cohort of

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Neuro-fuzzy model of homocysteine metabolism.

Naushad SM, Rama Devi AR, Nivetha S, Lakshmitha G, Stanley AB, Hussain T, Kutala VK.

Abstract : In view of well-documented association of hyperhomocysteinaemia with a wide spectrum of diseases and higher incidence of vitamin deficiencies in Indians.we proposed a mathematical model to forecast the role of demographic and genetic variables

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