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Germline variants drive myelodysplastic syndrome in young adults.
Leukemia. 2021 Aug;35(8):2439-2444. doi: 10.1038/s41375-021-01137-0. Epub 2021 Jan 28.
Leukemia. 2021.
PMID: 33510405
Free PMC article.
No abstract available.
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L, Cavalcante de Andrade Silva M, Petras K, Arndt K, Phillips N, Wanjari P, Subramanian HP, Montes D, McElherne J, Theissen M, Briese R, Das S, Godley LA, Segal J, Del Gaudio D, Fitzpatrick C, Churpek JE.
DeRoin L, et al. Among authors: subramanian hp.
Hum Mutat. 2022 Jul;43(7):950-962. doi: 10.1002/humu.24374. Epub 2022 Apr 14.
Hum Mutat. 2022.
PMID: 35419889
Free PMC article.
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Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JE.
Feurstein S, et al. Among authors: subramanian hp.
Blood Adv. 2020 Oct 13;4(19):4873-4886. doi: 10.1182/bloodadvances.2020001721.
Blood Adv. 2020.
PMID: 33035329
Free PMC article.
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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Sanyoura M, Lundgrin EL, Subramanian HP, Yu M, Sodadasi P, Greeley SAW, MacLeish S, Del Gaudio D.
Sanyoura M, et al. Among authors: subramanian hp.
Diabetes Res Clin Pract. 2021 May;175:108798. doi: 10.1016/j.diabres.2021.108798. Epub 2021 Apr 15.
Diabetes Res Clin Pract. 2021.
PMID: 33845048
Free PMC article.
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Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio D.
Gileta AF, et al. Among authors: subramanian hp.
Am J Med Genet A. 2021 Mar;185(3):889-893. doi: 10.1002/ajmg.a.62023. Epub 2020 Dec 23.
Am J Med Genet A. 2021.
PMID: 33369061
Free PMC article.
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Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.
Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M.
Chakravorty S, et al. Among authors: subramanian hp.
Muscle Nerve. 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. Epub 2019 Apr 29.
Muscle Nerve. 2019.
PMID: 30990900
Free PMC article.
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Rapid and enhanced remote homology detection by cascading hidden Markov model searches in sequence space.
Kaushik S, Nair AG, Mutt E, Subramanian HP, Sowdhamini R.
Kaushik S, et al. Among authors: subramanian hp.
Bioinformatics. 2016 Feb 1;32(3):338-44. doi: 10.1093/bioinformatics/btv538. Epub 2015 Oct 10.
Bioinformatics. 2016.
PMID: 26454276
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