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: Trp87Ter

PubMed Link: 37119068

Variant Present in the following documents:

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

View BVdb publication page

---

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: 190+2388G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports

Di Taranto, Maria Donata MD; Benito-Vicente, Asier A; Giacobbe, Carola C; Uribe, Kepa Belloso KB; Rubba, Paolo P; Etxebarria, Aitor A; Guardamagna, Ornella O; Gentile, Marco M; Martín, Cesar C; Fortunato, Giuliana G

Publication Date: 2017-11-10

Variant appearance in text: LDLR: Trp87*

PubMed Link: 29127338

Variant Present in the following documents:

View BVdb publication page

---

[Not Available].

Der Internist

Publication Date: 2016-04

Variant appearance in text: LDLR: 260G>A; Trp87X

PubMed Link: 27011311

Variant Present in the following documents:

• 108_2016_Article_53.pdf

View BVdb publication page

---

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.

Bmc Medical Genomics

Facio, Flavia M FM; Sapp, Julie C JC; Linn, Amy A; Biesecker, Leslie G LG

Publication Date: 2012-10-10

Variant appearance in text: LDLR: Trp87X

PubMed Link: 23046515

Variant Present in the following documents:

• Main text
• 1755-8794-5-45.pdf

View BVdb publication page

---

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.

Atherosclerosis

Ng, David D; Spaulding, Emma E; , ; Mullikin, James C JC; Biesecker, Leslie G LG

Publication Date: 2010-08

Variant appearance in text: LDLR: 260G>A; Trp87X

PubMed Link: 20452591

Variant Present in the following documents:

• Main text

View BVdb publication page

---