Kulshrestha S - Search Results

1

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R, Bijarnia-Mahay S, Verma IC, Puri RD. Bhatia S, et al. Among authors: kulshrestha s. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01569-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605122

2

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.

Bhai P, Saxena R, Kulshrestha S, Verma IC. Bhai P, et al. Among authors: kulshrestha s. Cancer Genet. 2019 Jun;235-236:13-17. doi: 10.1016/j.cancergen.2019.05.003. Epub 2019 May 31. Cancer Genet. 2019. PMID: 31296309

3

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.

Bhai P, Kulshrestha S, Puri RD, Bijarnia Mahay S, Saxena R, Verma IC. Bhai P, et al. Among authors: kulshrestha s. Indian J Gastroenterol. 2020 Dec;39(6):599-607. doi: 10.1007/s12664-020-01096-x. Epub 2020 Nov 16. Indian J Gastroenterol. 2020. PMID: 33191490

4

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Bijarnia-Mahay S, Somashekar PH, Kaur P, Kulshrestha S, Ramprasad VL, Murugan S, Sud S, Shukla A. Bijarnia-Mahay S, et al. Among authors: kulshrestha s. J Hum Genet. 2022 Mar;67(3):133-136. doi: 10.1038/s10038-021-00981-3. Epub 2021 Oct 8. J Hum Genet. 2022. PMID: 34621002 Free PMC article.

5

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD. Biji IK, et al. Among authors: kulshrestha s. Eur J Med Genet. 2022 Oct;65(10):104595. doi: 10.1016/j.ejmg.2022.104595. Epub 2022 Aug 22. Eur J Med Genet. 2022. PMID: 36007841

6

Next-Generation Sequencing in Unexplained Intellectual Disability.

Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD. Sandal S, et al. Among authors: kulshrestha s. Indian J Pediatr. 2023 Oct 7. doi: 10.1007/s12098-023-04820-5. Online ahead of print. Indian J Pediatr. 2023. PMID: 37804371

7

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

Setia N, Movva S, Balakrishnan P, Biji IK, Sawhney JPS, Puri R, Arora A, Puri RD, Saxena R, Mishra S, Apte S, Kulshrestha S, Ramprasad VL, Verma IC. Setia N, et al. Among authors: kulshrestha s. J Clin Lipidol. 2020 Jan-Feb;14(1):35-45. doi: 10.1016/j.jacl.2019.12.010. Epub 2020 Jan 9. J Clin Lipidol. 2020. PMID: 32044282

8

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. Kausthubham N, et al. Among authors: kulshrestha s. Hum Mutat. 2021 Apr;42(4):e15-e61. doi: 10.1002/humu.24172. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33502066 Free PMC article.

9

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Murakami Y, et al. Among authors: kulshrestha s. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256876 Free PMC article.

10

Genome Sequencing.

Verma M, Kulshrestha S, Puri A. Verma M, et al. Among authors: kulshrestha s. Methods Mol Biol. 2017;1525:3-33. doi: 10.1007/978-1-4939-6622-6_1. Methods Mol Biol. 2017. PMID: 27896715

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