Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: NPC1: 1937G>A; R646H

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs112387560

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic characterization of intrinsic and acquired resistance to cetuximab in colorectal cancer patients.

Scientific Reports

Bray, Steven M SM; Lee, Jeeyun J; Kim, Seung Tae ST; Hur, Joon Young JY; Ebert, Philip J PJ; Calley, John N JN; Wulur, Isabella H IH; Gopalappa, Thejaswini T; Wong, Swee Seong SS; Qian, Hui-Rong HR; Ting, Jason C JC; Liu, Jiangang J; Willard, Melinda D MD; Novosiadly, Ruslan D RD; Park, Young Suk YS; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Aggarwal, Amit A; Kim, Hee Cheol HC; Reinhard, Christoph C

Publication Date: 2019-10-25

Variant appearance in text: NPC1: R646H

PubMed Link: 31653970

Variant Present in the following documents:

• 41598_2019_51981_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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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: NPC1: 1937G>A

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology

Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R

Publication Date: 2019

Variant appearance in text: NPC1: Arg646His; rs112387560

PubMed Link: 30985853

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf

View BVdb publication page

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD

Publication Date: 2016-01

Variant appearance in text: NPC1: 1937G>A; R646H

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

View BVdb publication page

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