Publications by authors named "Shelly Goomber"

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Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Jennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, Shelly Goomber, Yinghong Pan

Mol Genet Metab· November 2023

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Development of a clinically validated functional assay to assess pathogenicity of novel variants in patients with Pompe disease identified newborn screening.
Shelly Goomber, Erin Huggins, Catherine W Rehder, Jennifer L Cohen, Deeksha S Bali

Front Genet· September 2022

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Geographic Plasmodium falciparum sarcoplasmic reticulum Ca2+ ATPase (PfSERCA) genotype diversity in India.
Shelly Goomber, Neelima Mishra, Anup Anvikar, Neena Valecha

Acta Trop· February 2020

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Engineering lipases for temperature adaptation: Structure function correlation.
Rakesh Kumar, Shelly Goomber, Jagdeep Kaur

Biochim Biophys Acta Proteins Proteom· November 2019

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Spatio-temporal distribution of PfMDR1 polymorphism among uncomplicated Plasmodium falciparum malaria cases along international border of north east India.
Shelly Goomber, Neelima Mishra, Anup Anvikar, Chander Prakash Yadav, Neena Valecha

Infect Genet Evol· September 2018

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Point mutation Gln121-Arg increased temperature optima of Bacillus lipase (1.4 subfamily) by fifteen degrees.
Shelly Goomber, Rakesh Kumar, Ranvir Singh, Neelima Mishra, Jagdeep Kaur

Int J Biol Macromol· July 2016

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Point Mutation Ile137-Met Near Surface Conferred Psychrophilic Behaviour and Improved Catalytic Efficiency to Bacillus Lipase of 1.4 Subfamily.
Shelly Goomber, Arbind Kumar, Ranvir Singh, Jagdeep Kaur

Appl Biochem Biotechnol· February 2016

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Disruption of N terminus long range non covalent interactions shifted temp.opt 25°C to cold: Evolution of point mutant Bacillus lipase by error prone PCR.
Shelly Goomber, Arbind Kumar, Jagdeep Kaur

Gene· January 2016

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