Publications:

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A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

Genes

La Cognata, Valentina V; Cavallaro, Sebastiano S

Publication Date: 2021-10-30

Variant appearance in text: rs116928232

PubMed Link: 34828358

Variant Present in the following documents:

• genes-12-01750.pdf

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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: LIPA: 894G>C; Gln298His; rs116928232

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports

Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS

Publication Date: 2021-01

Variant appearance in text: rs116928232

PubMed Link: 33269076

Variant Present in the following documents:

• br-14-01-01391.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: LIPA: 894G>C; Gln298His

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Genetic Polymorphisms Implicated in Nonalcoholic Liver Disease or Selected Other Disorders Have No Influence on Drug-Induced Liver Injury.

Hepatology Communications

Bonkovsky, Herbert L HL; Severson, Tyler T; Nicoletti, Paola P; Barnhart, Huiman H; Serrano, Jose J; Chalasani, Naga N; Fontana, Robert J RJ; Watkins, Paul B PB; Navarro, Victor V; Stolz, Andrew A; Daly, Ann K AK; Aithal, Guruparasad P GP; Odin, Joseph J; ,

Publication Date: 2019-08

Variant appearance in text: rs116928232

PubMed Link: 31388624

Variant Present in the following documents:

• Main text
• HEP4-3-1032.pdf

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Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.

Journal Of Inherited Metabolic Disease

Cappuccio, Gerarda G; Donti, Taraka R TR; Hubert, Leroy L; Sun, Qin Q; Elsea, Sarah H SH

Publication Date: 2019-05

Variant appearance in text: LAL: 894G>C

PubMed Link: 30684275

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: rs116928232

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

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Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

Jimd Reports

Ruiz-Andrés, Carla C; Sellés, Elena E; Arias, Angela A; Gort, Laura L; ,

Publication Date: 2017

Variant appearance in text: LAL: 894G>C

PubMed Link: 28220406

Variant Present in the following documents:

• Main text

View BVdb publication page

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