Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 478T>C; Cys160Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association

Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M

Publication Date: 2022-08-16

Variant appearance in text: LDLR: 478T>C; Cys160Arg; rs879254540

PubMed Link: 35929461

Variant Present in the following documents:

• JAH3-11-e025232.pdf
• JAH3-11-e025232-s001.pdf

View BVdb publication page

---

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics

Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2022

Variant appearance in text: LDLR: 478T>C; Cys160Arg

PubMed Link: 35480308

Variant Present in the following documents:

• Presentation1.pdf

View BVdb publication page

---

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association

Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S

Publication Date: 2021-02-16

Variant appearance in text: LDLR: 478T>C; Cys160Arg; rs879254540

PubMed Link: 33533259

Variant Present in the following documents:

• JAH3-10-e018263.pdf
• JAH3-10-e018263-s001.pdf

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LDLR: 478T>C; Cys160Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: C160R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---