Publications:

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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: 1739C>T; Ser580Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Multiparametric platform for profiling lipid trafficking in human leukocytes.

Cell Reports Methods

Pfisterer, Simon G SG; Brock, Ivonne I; Kanerva, Kristiina K; Hlushchenko, Iryna I; Paavolainen, Lassi L; Ripatti, Pietari P; Islam, Mohammad Majharul MM; Kyttälä, Aija A; Di Taranto, Maria D MD; Scotto di Frega, Annalisa A; Fortunato, Giuliana G; Kuusisto, Johanna J; Horvath, Peter P; Ripatti, Samuli S; Laakso, Markku M; Ikonen, Elina E

Publication Date: 2022-02-28

Variant appearance in text: LDLR: Ser580Phe

PubMed Link: 35474963

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc2.pdf

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Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: LDLR: 1739C>T; Ser580Phe; rs934496989

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

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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: LDLR: S580F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2020-01-14

Variant appearance in text: LDLR: 1739C>T; Ser580Phe

PubMed Link: 31947532

Variant Present in the following documents:

• Main text
• jcm-09-00219.pdf

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An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research

Romano, Maria M; Di Taranto, Maria Donata MD; Mirabelli, Peppino P; D'Agostino, Maria Nicoletta MN; Iannuzzi, Arcangelo A; Marotta, Gennaro G; Gentile, Marco M; Raia, Maddalena M; Di Noto, Rosa R; Del Vecchio, Luigi L; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2011-11

Variant appearance in text: LDLR: 1739C>T; Ser580Phe

PubMed Link: 21865347

Variant Present in the following documents:

• Main text

View BVdb publication page

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