Publications:

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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: HEXA: 964G>A; Asp322Asn; rs772180415

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: HEXA: 964G>A; D322N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports

Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR

Publication Date: 2019-09

Variant appearance in text: HEXA: Asp322Asn

PubMed Link: 31367523

Variant Present in the following documents:

• Main text
• main.pdf

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: HEXA: 964G>A; Asp322Asn

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4

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Molecular study of lysosomal storage disorders in India.

Molecular Cytogenetics

Sheth, Jayesh J

Publication Date: 2014

Variant appearance in text: HEXA: D322N

PubMed Link: 24940364

Variant Present in the following documents:

• 1755-8166-7-S1-I30.pdf

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Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

Jimd Reports

Sheth, Jayesh J; Mistri, Mehul M; Sheth, Frenny F; Shah, Raju R; Bavdekar, Ashish A; Godbole, Koumudi K; Nanavaty, Nidhish N; Datar, Chaitanya C; Kamate, Mahesh M; Oza, Nrupesh N; Ankleshwaria, Chitra C; Mehta, Sanjeev S; Jackson, Marie M

Publication Date: 2014

Variant appearance in text: HEXA: 964G>A; D322N

PubMed Link: 23852624

Variant Present in the following documents:

• Main text

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Plos One

Mistri, Mehul M; Tamhankar, Parag M PM; Sheth, Frenny F; Sanghavi, Daksha D; Kondurkar, Pratima P; Patil, Swapnil S; Idicula-Thomas, Susan S; Gupta, Sarita S; Sheth, Jayesh J

Publication Date: 2012

Variant appearance in text: HEXA: 964G>A; D322N

PubMed Link: 22723944

Variant Present in the following documents:

• Main text
• pone.0039122.pdf

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