Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
Goomber, Shelly, Huggins, Erin, Rehder, Catherine W., Cohen, Jennifer L., Bali, Deeksha S., Kishnani, Priya S.
Published in Frontiers in genetics (30.09.2022)
Published in Frontiers in genetics (30.09.2022)
Get full text
Journal Article
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
Kanavy, Dona, Goldstein, Jenny, Pinto e Vairo, Filippo, Bali, Deeksha, Chen-Deutsch, Xiangwen, Donti, Taraka, Goomber, Shelly, McGlaughon, Jennifer, Pan, Yinghong, Seifert, Bryce, Fernandez, Raquel, Kyle, Emily, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
Engineering lipases for temperature adaptation: Structure function correlation
Kumar, Rakesh, Goomber, Shelly, Kaur, Jagdeep
Published in Biochimica et biophysica acta. Proteins and proteomics (01.11.2019)
Published in Biochimica et biophysica acta. Proteins and proteomics (01.11.2019)
Get full text
Journal Article
eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients
Goomber, Shelly, Huggins, Erin, Rehder, Catherine, Cohen, Jennifer L., Bali, Deeksha, Kishnani, Priya
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
Get full text
Journal Article
Geographic Plasmodium falciparum sarcoplasmic reticulum Ca2+ ATPase (PfSERCA) genotype diversity in India
Goomber, Shelly, Mishra, Neelima, Anvikar, Anup, Valecha, Neena
Published in Acta tropica (01.02.2020)
Published in Acta tropica (01.02.2020)
Get full text
Journal Article
Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)
Goomber, Shelly, Yi, Haiqing, Austin, Stephanie, Rehder, Catherine, Crawford, Gregory, Bali, Deeksha Sarihyan, Kishnani, Priya
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
Get full text
Journal Article
Comparative analysis of point mutations on protein COOH terminal near surface and its hydrophobic core provide insights on thermostability of Bacillus Lipase LipJ
Goomber, Shelly, Chopra, Nisha, Kaur Bedi, Gursimran, Kaur, Jagdeep
Published in Journal of molecular catalysis. B, Enzymatic (01.11.2016)
Published in Journal of molecular catalysis. B, Enzymatic (01.11.2016)
Get full text
Journal Article
Spatio-temporal distribution of PfMDR1 polymorphism among uncomplicated Plasmodium falciparum malaria cases along international border of north east India
Goomber, Shelly, Mishra, Neelima, Anvikar, Anup, Yadav, Chander Prakash, Valecha, Neena
Published in Infection, genetics and evolution (01.09.2018)
Published in Infection, genetics and evolution (01.09.2018)
Get full text
Journal Article
Variant classification for Pompe disease; ACMG/AMP specifications from the ClinGen lysosomal diseases variant curation expert panel
Goldstein, Jennifer L., McGlaughon, Jennifer, Kanavy, Dona, Goomber, Shelly, Pan, Yinghong, Deml, Brett, Donti, Taraka, Kearns, Liz, Seifert, Bryce A., Schachter, Miriam, Son, Rachel G., Thaxton, Courtney, Udani, Rupa, Bali, Deeksha, Baudet, Heather, Caggana, Michele, Hung, Christina, Kyriakopoulou, Lianna, Rosenblum, Lynne, Steiner, Robert, Pinto e Vairo, Filippo, Wang, Yang, Watson, Michael, Fernandez, Raquel, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Molecular genetics and metabolism (01.09.2023)
Published in Molecular genetics and metabolism (01.09.2023)
Get full text
Journal Article