Publications:

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Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance

Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V

Publication Date: 2023-03

Variant appearance in text: PCSK9: 1069C>T; Arg357Cys

PubMed Link: 36635046

Variant Present in the following documents:

• LSA-2022-01673_TableS1.xlsx, sheet 1

View BVdb publication page

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: PCSK9: Arg357Cys

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

View BVdb publication page

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Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Frontiers In Genetics

Nurm, Miriam M; Reigo, Anu A; Nõukas, Margit M; Leitsalu, Liis L; Nikopensius, Tiit T; Palover, Marili M; Annilo, Tarmo T; Alver, Maris M; Saar, Aet A; Marandi, Toomas T; Ainla, Tiia T; Metspalu, Andres A; Esko, Tõnu T; Tõnisson, Neeme N

Publication Date: 2022

Variant appearance in text: PCSK9: Arg357Cys; rs148562777

PubMed Link: 35928446

Variant Present in the following documents:

• Main text
• fgene-13-936131.pdf

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: PCSK9: R357C; rs148562777

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Arquivos Brasileiros De Cardiologia

Jannes, Cinthia Elim CE; Silvino, Júnea Paolucci Paiva JPP; Silva, Pãmela Rodrigues de Souza PRS; Lima, Isabella Ramos IR; Tada, Mauricio Teruo MT; Oliveira, Theo Gremen Mimary TGM; Santos, Raul D RD; Krieger, José Eduardo JE; Pereira, Alexandre da Costa ADC

Publication Date: 2022-04

Variant appearance in text: PCSK9: Arg357Cys

PubMed Link: 35137788

Variant Present in the following documents:

• 0066-782X-abc-118-04-0669.pdf

View BVdb publication page

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: PCSK9: 1069C>T; Arg357Cys; rs148562777

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

View BVdb publication page

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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: PCSK9: 1069C>T; Arg357Cys; rs148562777

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: PCSK9: 1069C>T; Arg357Cys; rs148562777

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

View BVdb publication page

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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics

Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y

Publication Date: 2020

Variant appearance in text: PCSK9: R357C

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: PCSK9: R357C; rs148562777

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Alver, Maris M; Palover, Marili M; Saar, Aet A; Läll, Kristi K; Zekavat, Seyedeh Maryam SM; Tõnisson, Neeme N; Leitsalu, Liis L; Reigo, Anu A; Nikopensius, Tiit T; Ainla, Tiia T; Kals, Mart M; Mägi, Reedik R; Gabriel, Stacey B SB; Eha, Jaan J; Lander, Eric S ES; Irs, Alar A; Philippakis, Anthony A; Marandi, Toomas T; Natarajan, Pradeep P; Metspalu, Andres A; Kathiresan, Sekar S; Esko, Tõnu T

Publication Date: 2019-05

Variant appearance in text: PCSK9: 1069C>T; Arg357Cys; rs148562777

PubMed Link: 30270359

Variant Present in the following documents:

• 41436_2018_311_MOESM5_ESM.pdf
• 41436_2018_311_MOESM7_ESM.pdf
• 41436_2018_311_MOESM6_ESM.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs148562777

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: PCSK9: 1069C>T; Arg357Cys

PubMed Link: 29127338

Variant Present in the following documents:

• Main text
• 41598_2017_Article_15543.pdf

View BVdb publication page

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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics

Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR

Publication Date: 2015

Variant appearance in text: PCSK9: 1069C>T; R357C

PubMed Link: 25904937

Variant Present in the following documents:

• Main text
• fgene-06-00136.pdf

View BVdb publication page

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Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

Nature Genetics

Taylor, Kathryn R KR; Mackay, Alan A; Truffaux, Nathalène N; Butterfield, Yaron Y; Morozova, Olena O; Philippe, Cathy C; Castel, David D; Grasso, Catherine S CS; Vinci, Maria M; Carvalho, Diana D; Carcaboso, Angel M AM; de Torres, Carmen C; Cruz, Ofelia O; Mora, Jaume J; Entz-Werle, Natacha N; Ingram, Wendy J WJ; Monje, Michelle M; Hargrave, Darren D; Bullock, Alex N AN; Puget, Stéphanie S; Yip, Stephen S; Jones, Chris C; Grill, Jacques J

Publication Date: 2014-05

Variant appearance in text: rs148562777

PubMed Link: 24705252

Variant Present in the following documents:

• NIHMS57117-supplement-2.xlsx, sheet 2

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PCSK9: R357C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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