Publications:

---

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: NPC1: G1240R

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications

Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE

Publication Date: 2019-11-07

Variant appearance in text: NPC1: G1240R

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

View BVdb publication page

---

Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics

Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE

Publication Date: 2020-01-01

Variant appearance in text: NPC1: G1240R

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Consensus clinical management guidelines for Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases

Geberhiwot, Tarekegn T; Moro, Alessandro A; Dardis, Andrea A; Ramaswami, Uma U; Sirrs, Sandra S; Marfa, Mercedes Pineda MP; Vanier, Marie T MT; Walterfang, Mark M; Bolton, Shaun S; Dawson, Charlotte C; Héron, Bénédicte B; Stampfer, Miriam M; Imrie, Jackie J; Hendriksz, Christian C; Gissen, Paul P; Crushell, Ellen E; Coll, Maria J MJ; Nadjar, Yann Y; Klünemann, Hans H; Mengel, Eugen E; Hrebicek, Martin M; Jones, Simon A SA; Ory, Daniel D; Bembi, Bruno B; Patterson, Marc M; ,

Publication Date: 2018-04-06

Variant appearance in text: NPC1: G1240R

PubMed Link: 29625568

Variant Present in the following documents:

• Main text
• 13023_2018_Article_785.pdf

View BVdb publication page

---

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell

Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N

Publication Date: 2016-06-02

Variant appearance in text: NPC1: G1240R

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: G1240R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: G1240R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---