Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GBA: 492C>G; Ser164Arg; rs746019841

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: S164R

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: 492C>G

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: 492C>G

PubMed Link: 30285649

Variant Present in the following documents:

• Main text
• 12881_2018_Article_687.pdf

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Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Molecular Genetics And Metabolism

Hassan, Shahzeb S; Lopez, Grisel G; Stubblefield, Barbara K BK; Tayebi, Nahid N; Sidransky, Ellen E

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29980418

Variant Present in the following documents:

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