Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GBA: D354N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Bmc Medical Genetics

Sheth, Jayesh J; Bhavsar, Riddhi R; Mistri, Mehul M; Pancholi, Dhairya D; Bavdekar, Ashish A; Dalal, Ashwin A; Ranganath, Prajnya P; Girisha, Katta M KM; Shukla, Anju A; Phadke, Shubha S; Puri, Ratna R; Panigrahi, Inusha I; Kaur, Anupriya A; Muranjan, Mamta M; Goyal, Manisha M; Ramadevi, Radha R; Shah, Raju R; Nampoothiri, Sheela S; Danda, Sumita S; Datar, Chaitanya C; Kapoor, Seema S; Bhatwadekar, Seema S; Sheth, Frenny F

Publication Date: 2019-02-14

Variant appearance in text: GBA1: 1060G>A; rs398123526

PubMed Link: 30764785

Variant Present in the following documents:

• Main text
• 12881_2019_Article_759.pdf

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Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Bmc Medical Genetics

Sheth, Jayesh J; Pancholi, Dhairya D; Mistri, Mehul M; Nath, Payal P; Ankleshwaria, Chitra C; Bhavsar, Riddhi R; Puri, Ratna R; Phadke, Shubha S; Sheth, Frenny F

Publication Date: 2018-10-01

Variant appearance in text: GBA: 1060G>A; rs398123526

PubMed Link: 30285649

Variant Present in the following documents:

• Main text
• 12881_2018_Article_687.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GBA: 1060G>A; D354N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page