Publications:

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: 3598A>G; S1200G

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: NPC1: S1200G

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.

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

Adebali, Ogun O; Reznik, Alexander O AO; Ory, Daniel S DS; Zhulin, Igor B IB

Publication Date: 2016-10

Variant appearance in text: NPC1: S1200G

PubMed Link: 26890452

Variant Present in the following documents:

• Main text
• gim2015208a.pdf

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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: 3598A>G; S1200G

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Human Molecular Genetics

Bauer, Peter P; Balding, David J DJ; Klünemann, Hans H HH; Linden, David E J DE; Ory, Daniel S DS; Pineda, Mercè M; Priller, Josef J; Sedel, Frederic F; Muller, Audrey A; Chadha-Boreham, Harbajan H; Welford, Richard W D RW; Strasser, Daniel S DS; Patterson, Marc C MC

Publication Date: 2013-11-01

Variant appearance in text: NPC1: 3598A>G; Ser1200Gly

PubMed Link: 23773996

Variant Present in the following documents:

• Main text
• ddt284.pdf

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