Publications:

---

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2022-11-01

Variant appearance in text: APOE: Arg50His

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

View BVdb publication page

---

Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine

Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G

Publication Date: 2022-02-04

Variant appearance in text: APOE: Arg50His

PubMed Link: 35119017

Variant Present in the following documents:

• Main text
• medi-101-e28718.pdf

View BVdb publication page

---

Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine

Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G

Publication Date: 2022-02-04

Variant appearance in text: APOE: Arg50His

PubMed Link: 35119017

Variant Present in the following documents:

• Main text
• medi-101-e28718.pdf

View BVdb publication page

---

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs762461580

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: APOE: R50H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: APOE: R50H

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

View BVdb publication page

---

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: APOE: R50H

PubMed Link: 30917570

Variant Present in the following documents:

• Main text
• ijms-20-01514.pdf

View BVdb publication page

---

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: APOE: R50H

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

View BVdb publication page

---

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs762461580

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3

View BVdb publication page

---

Organoids model distinct Vitamin E effects at different stages of prostate cancer evolution.

Scientific Reports

Njoroge, Rose N RN; Unno, Kenji K; Zhao, Jonathan C JC; Naseem, Anum F AF; Anker, Jonathan F JF; McGee, Warren A WA; Nonn, Larisa L; Abdulkadir, Sarki A SA

Publication Date: 2017-11-24

Variant appearance in text: APOE: R50H

PubMed Link: 29176677

Variant Present in the following documents:

• 41598_2017_16459_MOESM1_ESM.pdf

View BVdb publication page

---