Exome re-analysis increases the diagnostic yield of monogenic diseases in children

Exome re-analysis increases the diagnostic yield of monogenic diseases in children

Saved in:

Bibliographic Details
Main Authors:	Atanu Kumar Dutta, Niladri Sekhar Bhunia, Rohit Bhowmik, Nihar Ranjan Mishra, Rimjhim Sonowal, Nibedita Sarma, Sumit Mukherjee, Kalyan Goswami
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Pediatrics and Neonatology
Online Access:	http://www.sciencedirect.com/science/article/pii/S1875957224001839
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Line Graphs of Monogenic Semigroup Graphs
by: Nihat Akgunes, et al.
Published: (2021-01-01)

On Dedekind's criterion and monogenicity over Dedekind rings
by: M. E. Charkani, et al.
Published: (2003-01-01)

Polymorphism of monogenic scab resistance loci in apple varieties
by: A. S. Lyzhin, et al.
Published: (2020-04-01)

Szegő projections for hardy spaces of monogenic functions and applications
by: Swanhild Bernstein, et al.
Published: (2002-01-01)

Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives
by: Marco A. Luís, et al.
Published: (2025-01-01)

Clinical and molecular characterisation of children with monogenic obesity: a case series
by: Arun George, et al.
Published: (2024-07-01)

Whole exome analysis of primary immunodeficiency
by: E. S. Rahmani, et al.
Published: (2018-08-01)

Understanding the Pathogenesis of Angelman Syndrome through Animal Models
by: Nihar Ranjan Jana
Published: (2012-01-01)

Dietary Iodine Intake and Pattern of Thyroid Disorders among the Ethnic Population of Eastern Himalayan Ranges of India
by: Trisha Sonowal, et al.
Published: (2024-01-01)

Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
by: Jiwoong Kim, et al.
Published: (2013-03-01)

Early Social Enrichment Improves Social Motivation and Skills in a Monogenic Mouse Model of Autism, the Oprm1−/− Mouse
by: Luciana Garbugino, et al.
Published: (2016-01-01)

Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
by: Ibitayo Abigail Ademuwagun, et al.
Published: (2025-02-01)

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy
by: Huafang Zou, et al.
Published: (2025-01-01)

Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
by: Ziravard N. Tonyan, et al.
Published: (2025-02-01)

Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
by: Marisa P. Dolled-Filhart, et al.
Published: (2013-01-01)

Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants
by: Kyung Kim, et al.
Published: (2015-06-01)

ERRATUM: Acknowledgments Correction. Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
by: Jiwoong Kim, et al.
Published: (2013-06-01)

Radiosensitivity and Induction of Apoptosis by High LET Carbon Ion Beam and Low LET Gamma Radiation: A Comparative Study
by: Atanu Ghorai, et al.
Published: (2014-01-01)

SNP discovery by exome capture and resequencing in a pea genetic resource collection
by: Aubert, Grégoire, et al.
Published: (2023-10-01)

Whole exome sequencing identifies genomic alterations in proximal and distal colorectal cancer
by: Ryia-Illani Mohd Yunos, et al.
Published: (2019-09-01)

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
by: Ahmed Bouhouche, et al.
Published: (2018-01-01)

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia
by: Ding Chen, et al.
Published: (2024-05-01)

Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma
by: Milena Urbini, et al.
Published: (2018-01-01)

Revealing Genomic Profile That Underlies Tropism of Myeloma Cells Using Whole Exome Sequencing
by: Youngil Koh, et al.
Published: (2015-01-01)

Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
by: Gerald Goh, et al.
Published: (2012-12-01)

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer
by: Ying-Cheng Chiang, et al.
Published: (2025-01-01)

Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio
by: Vera Belova, et al.
Published: (2025-01-01)

Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
by: Kyong-Ah Yoon, et al.
Published: (2018-12-01)

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
by: Heonjong Han, et al.
Published: (2025-01-01)

Extent of Farm Mechanization in North Bank Plains Zone of Assam, India
by: Suhail Alam, et al.
Published: (2025-01-01)

Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS
by: Priyal Sharma, et al.
Published: (2023-10-01)

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
by: Magdaléna Neřoldová, et al.
Published: (2023-01-01)

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
by: Masatake Toshimitsu, et al.
Published: (2019-01-01)

Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population
by: Tae-Joon Park, et al.
Published: (2015-01-01)

Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data
by: Jaewon Kim, et al.
Published: (2020-03-01)

Genetic Risk Prediction for Normal-Karyotype Acute Myeloid Leukemia Using Whole-Exome Sequencing
by: Seong Gu Heo, et al.
Published: (2013-03-01)

Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
by: Doudou Chen, et al.
Published: (2021-01-01)

A preliminary account of Culicoides (Diptera: Ceratopogonidae) from the Andaman and Nicobar Islands with 13 new records and updated species inventory from India
by: Koustav Mukherjee, et al.
Published: (2025-01-01)

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
by: Magdaléna Neřoldová, et al.
Published: (2025-01-01)

Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family
by: Y. N. Khan, et al.
Published: (2024-05-01)