Publications:

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Journal Of The American Heart Association

Cuchel, Marina M; Lee, Paul C PC; Hudgins, Lisa C LC; Duell, P Barton PB; Ahmad, Zahid Z; Baum, Seth J SJ; Linton, MacRae F MF; de Ferranti, Sarah D SD; Ballantyne, Christie M CM; Larry, John A JA; Hemphill, Linda C LC; Kindt, Iris I; Gidding, Samuel S SS; Martin, Seth S SS; Moriarty, Patrick M PM; Thompson, Paul P PP; Underberg, James A JA; Guyton, John R JR; Andersen, Rolf L RL; Whellan, David J DJ; Benuck, Irwin I; Kane, John P JP; Myers, Kelly K; Howard, William W; Staszak, David D; Jamison, Allison A; Card, Mary C MC; Bourbon, Mafalda M; Chora, Joana R JR; Rader, Daniel J DJ; Knowles, Joshua W JW; Wilemon, Katherine K; McGowan, Mary P MP

Publication Date: 2023-04-29

Variant appearance in text: LDLR: Cys75Ser

PubMed Link: 37119068

Variant Present in the following documents:

• JAH3-12-e029175.pdf
• JAH3-12-e029175-s001.pdf

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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: 223T>A; Cys75Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: LDLR: 223T>A; Cys75Ser

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

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Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol.

American Journal Of Preventive Cardiology

Warden, Bruce A BA; Miles, Joshua R JR; Oleaga, Carlota C; Ganda, Om P OP; Duell, P Barton PB; Purnell, Jonathan Q JQ; Shapiro, Michael D MD; Fazio, Sergio S

Publication Date: 2020-03

Variant appearance in text: LDLR: Cys75Ser

PubMed Link: 34327453

Variant Present in the following documents:

• Main text
• main.pdf

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 223T>A; Cys75Ser

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

View BVdb publication page