Advancing diagnosis and management of liver disease in adults through exome sequencing

Authors: Zheng, Melanie, Hakim, Aaron, Konkwo, Chigoziri, Deaton, Aimee M., Ward, Lucas D., Silveira, Marina G., Assis, David N., Liapakis, AnnMarie, Jaffe, Ariel, Jiang, Z. Gordon, Curry, Michael P., Lai, Michelle, Cho, Michael H., Dykas, Daniel, Bale, Allen, Mistry, Pramod K., Vilarinho, Silvia

Source: In eBioMedicine September 2023 95

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1

Authors: Cox, Timothy M., Charrow, Joel, Lukina, Elena, Mistry, Pramod K., Foster, Meredith C., Peterschmitt, M. Judith

Source: In Genetics in Medicine February 2023 25(2)

Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science

Authors: Grabowski, Gregory A., Mistry, Pramod K.

Source: Molecular genetics and metabolism. 137(1-2):81-91

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176747495.0x000001&indx=1&recIds=ETOCvdc_100176747495.0x000001

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry

Authors: Rosenbloom, Barry E., Cappellini, Maria Domenica, Weinreb, Neal J., Dragosky, Marta, Revel‐Vilk, Shoshana, Batista, Julie L., Sekulic, Davorka, Mistry, Pramod K.

Source: American journal of hematology. 97(10):1337-1347

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170796181.0x000001&indx=1&recIds=ETOCvdc_100170796181.0x000001

Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Authors: Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism Reports December 2021 29

Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease

Authors: Kleytman, Nathaniel, Ruan, Jiapeng, Ruan, Audrey, Zhang, Bailin, Murugesan, Vagishwari, Lin, Haiqun, Guo, Lilu, Klinger, Katherine, Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism Reports December 2021 29

Gaucher disease: Basic and translational science needs for more complete therapy and management

Authors: Grabowski, Gregory A., Antommaria, Armand H.M., Kolodny, Edwin H., Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism February 2021 132(2):59-75

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

Authors: Fierro, Luca, Nesheiwat, Nora, Naik, Hetanshi, Narayanan, Praveena, Mistry, Pramod K., Balwani, Manisha

Source: In Molecular Genetics and Metabolism January 2021 132(1):44-48

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results

Authors: Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Feldman, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Lau, Heather, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Foster, Meredith C., Gaemers, Sebastiaan J. M., Peterschmitt, M. Judith

Source: American journal of hematology. 96(9):1156-1165

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125675826.0x000001&indx=1&recIds=ETOCvdc_100125675826.0x000001

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy

Authors: Jones, Simon A., McGovern, Margaret, Lidove, Olivier, Giugliani, Roberto, Mistry, Pramod K., Dionisi-Vici, Carlo, Munoz-Rojas, Maria-Veronica, Nalysnyk, Lubomyra, Schecter, Alison D., Wasserstein, Melissa

Source: In Molecular Genetics and Metabolism September-October 2020 131(1-2):116-123

Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy

Authors: Nair, Shiny, Bar, Noffar, Xu, Mina L., Dhodapkar, Madhav, Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism April 2020 129(4):286-291

The risk of hepatocellular carcinoma is markedly increased in Gaucher disease

Authors: Basiri, Mohsen, Ruan, Jiapeng, Nair, Shiny, Lau, Heather A., Mistry, Pramod K., Taddei, Tamar

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180905883.0x000001&indx=1&recIds=ETOCvdc_100180905883.0x000001

Osteonecrosis in the era of Gaucher disease therapies

Authors: Basiri, Mohsen, Ruan, Jiapeng, Belinsky, Glenn, Yang, Ruhua, Guo, Lilu, Klinger, Katherine W., Mistry, Pramod K.

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180905880.0x000001&indx=1&recIds=ETOCvdc_100180905880.0x000001

Severe pulmonary arterial hypertension in Gaucher disease type 1

Authors: Basiri, Mohsen, Ruan, Jiapeng, Nair, Shiny, Guo, Lilu, Mistry, Pramod K.

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180905891.0x000001&indx=1&recIds=ETOCvdc_100180905891.0x000001

Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry

Authors: Mistry, Pramod K., Bianculli, Pablo, Batsu, Isabela, Heine, Walter, Oliveira-dos-Santos, Antonio, Minini, Pascal, Batista, Julie

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180902691.0x000001&indx=1&recIds=ETOCvdc_100180902691.0x000001

Single cell resolution of neurodegeneration in Gaucher disease

Authors: Nair, Shiny, Belinsky, Glenn, Ruan, Jiapeng, Basiri, Mohsen, Klinger, Katherine W., Mistry, Pramod K.

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180902622.0x000001&indx=1&recIds=ETOCvdc_100180902622.0x000001

Apoe-Abca1 axis is involved in the pathogenesis of Gaucher disease

Authors: Xing, Shu, Nair, Shiny, Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Molecular cell atlas of the brain in neuronopathic Gaucher disease

Authors: Nair, Shiny, Mehta, Sameet, Belinsky, Glenn S., Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Long-term outcomes of imiglucerase treatment in children with Gaucher disease type 1 or type 3 starting therapy before the age of 2 years

Authors: Mistry, Pramod K. ^a, Carwile, Jenny L. ^b, Burrow, Andrew ^c, Ganesh, Jaya ^d, Camelo, José Simon, Jr ^e, Hennermann, Julia B. ^f, Batista, Julie L. ^b, Oliveira-dos-Santos, Antonio ^g, Perichon, Maria G. ^b, Tantawy, Azza ^h

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease

Authors: Ain, Noor Ul, Kulkarni, Nina, Ruan, Jiapeng, Ruan, Audrey, Nair, Shiny, Mehta, Sameet, Mistry, Pramod K.

Source: In Molecular Genetics and Metabolism February 2025 144(2)