Jayesh Sheth
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View article: Prenatal diagnosis of rare genetic disorders: fourteen years’ experience of a tertiary genetic centre from India
Prenatal diagnosis of rare genetic disorders: fourteen years’ experience of a tertiary genetic centre from India Open
View article: Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India
Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India Open
View article: Long read whole genome sequencing-based discovery of complex structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India
Long read whole genome sequencing-based discovery of complex structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India Open
Background: Despite having heritability estimates of 80%, approximately 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Complex structural variants (SVs) detected using long-read genome sequencing are a rel…
View article: Maculopathy and adult‐onset ataxia in patients with biallelic <scp><i>MFSD8</i></scp> variants
Maculopathy and adult‐onset ataxia in patients with biallelic <span><i>MFSD8</i></span> variants Open
Background Biallelic variants in the major facilitator superfamily domain containing 8 gene ( MFSD8 ) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 di…
View article: Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India Open
Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping …
View article: 48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community
48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community Open
View article: Non-immune hydrops fetalis due to infantile sialidosis
Non-immune hydrops fetalis due to infantile sialidosis Open
Non-immune hydrops fetalis (NIHF) could result from several hematological and metabolic disorders, including alpha thalassemia, some mucopolysaccharidoses (MPSs), such as MPS I, MPS VII, and Gaucher disease; as well as some lethal skeletal…
View article: Lysosomal storage disorders identified in adult population from <scp>India</scp>: <scp>Experience</scp> of a tertiary genetic centre and review of literature
Lysosomal storage disorders identified in adult population from <span>India</span>: <span>Experience</span> of a tertiary genetic centre and review of literature Open
Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and …
View article: Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test Open
View article: THE CLINICAL AND MOLECULAR LANDSCAPE OF GLIOMAS IN ADOLESCENTS AND YOUNG ADULTS
THE CLINICAL AND MOLECULAR LANDSCAPE OF GLIOMAS IN ADOLESCENTS AND YOUNG ADULTS Open
Molecular alterations in gliomas in adolescents and young adults (AYA) have not been comprehensively described to date. To determine the impact of mutation, we performed a population based study of gliomas in AYA. METHODS: Patients diagnos…
View article: Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the <scp><i>PSAP</i></scp> gene: Case report from India
Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the <span><i>PSAP</i></span> gene: Case report from India Open
Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to for…
View article: Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: Evidence supporting whole exome sequencing as first tier test
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: Evidence supporting whole exome sequencing as first tier test Open
Background: Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly increasing prevalence. To the best of our knowledge, no data exists on the genetic architecture of ASD in India. This study aimed to identify the …
View article: Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review Open
View article: Multicentric study for estimation of prevalence of microsatellite instability and Lynch syndrome amongst colorectal cancer patients in India
Multicentric study for estimation of prevalence of microsatellite instability and Lynch syndrome amongst colorectal cancer patients in India Open
Purpose Colorectal cancer (CRC) is the fifth most common cancer in India, however, there is a paucity of systematically collected data related to its molecular epidemiology, specifically related to tumour microsatellite instability (MSI) a…
View article: A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report Open
Introduction NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth…
View article: Additional file 4 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
Additional file 4 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test Open
Supplementary Material 4
View article: Additional file 3 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
Additional file 3 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test Open
Supplementary Material 3
View article: Additional file 1 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
Additional file 1 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test Open
Supplementary Material 1
View article: Lysosomal storage disorders: from biology to the clinic with reference to India
Lysosomal storage disorders: from biology to the clinic with reference to India Open
View article: The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome Open
View article: The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome Open
Background: Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfatase ( GALNS ) gene. The mutation spectrum in th…
View article: Rapid molecular identification of a rare β-globin gene deletion & its clinical implication
Rapid molecular identification of a rare β-globin gene deletion & its clinical implication Open
Sir, β-thalassaemia is one of the most common inherited monogenic disorders prevalent in India, with an overall frequency of 3-4 per cent and an estimate of 10,000-12,000 children born every year as β-thalassaemia major1. This emphasizes o…
View article: An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report Open
Background Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an ultra-rare genetic condition that belongs to the group of spondyloepimetaphyseal dysplasias. It is caused due to presence of biallelic variants in the …
View article: Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors Open
Sir, Tay–Sachs disease (TSD) is one of the common glycolipid storage disorders with an incidence of 1 in 100,000 live births.[1] TSD (OMIM # 272800) is a result of biallelic pathogenic variants in the HEXA gene that causes deficiency of β-…
View article: Additional file 2 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
Additional file 2 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome Open
Additional file 2: Supplementary Table 2. List of single molecule molecular inversion probes for target capture of exons and exon-intron boundaries of the GALNS gene.
View article: Additional file 3 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
Additional file 3 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome Open
Additional file 3: Supplementary File 1. Genotyped SNP output data from 13 MPS IVA patients and 63 controls used for haplotype analysis.
View article: Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study
Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study Open
Background The fat-soluble K vitamins K1 and K2 play an essential role in the blood coagulation cascade and are made available predominantly through selective dietary intakes. They are less known for their nonessential roles in a family of…
View article: Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases
Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases Open
Biallelic mutations in the CCN6 gene are known to cause a rare genetic disorder—progressive pseudorheumatoid dysplasia (PPD). PPD is characterized by distinct joint deformities of interphalangeal joints, stiffness, gait disturbance, abnorm…
View article: Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study (Preprint)
Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study (Preprint) Open
BACKGROUND The fat-soluble K vitamins K1 and K2 play an essential role in the blood coagulation cascade and are made available predominantly through selective dietary intakes. They are less known for their nonessential roles in a family o…
View article: Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report Open
Background A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely r…