Publications:

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: PCSK9: 1394C>T; Ser465Leu

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Frontiers In Pediatrics

Imafidon, Miriam E ME; Sikkema-Raddatz, Birgit B; Abbott, Kristin M KM; Meems-Veldhuis, Martine T MT; Swertz, Morris A MA; van der Velde, K Joeri KJ; Beunders, Gea G; Bos, Dennis K DK; Knoers, Nine V A M NVAM; Kerstjens-Frederikse, Wilhelmina S WS; van Diemen, Cleo C CC

Publication Date: 2021

Variant appearance in text: PCSK9: 1394C>T; Ser465Leu

PubMed Link: 34136434

Variant Present in the following documents:

• Main text
• fped-09-600556.pdf

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Membrane type 1 matrix metalloproteinase promotes LDL receptor shedding and accelerates the development of atherosclerosis.

Nature Communications

Alabi, Adekunle A; Xia, Xiao-Dan XD; Gu, Hong-Mei HM; Wang, Faqi F; Deng, Shi-Jun SJ; Yang, Nana N; Adijiang, Ayinuer A; Douglas, Donna N DN; Kneteman, Norman M NM; Xue, Yazhuo Y; Chen, Li L; Qin, Shucun S; Wang, Guiqing G; Zhang, Da-Wei DW

Publication Date: 2021-03-25

Variant appearance in text: PCSK9: Ser465Leu

PubMed Link: 33767172

Variant Present in the following documents:

• 41467_2021_Article_22167.pdf

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH

Publication Date: 2019-10-25

Variant appearance in text: PCSK9: Ser465Leu

PubMed Link: 31653860

Variant Present in the following documents:

• Main text

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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: 1394C>T; Ser465Leu; rs778849441

PubMed Link: 29127338

Variant Present in the following documents:

• Main text

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics

Hopkins, Paul N PN; Defesche, Joep J; Fouchier, Sigrid W SW; Bruckert, Eric E; Luc, Gérald G; Cariou, Bertrand B; Sjouke, Barbara B; Leren, Trond P TP; Harada-Shiba, Mariko M; Mabuchi, Hiroshi H; Rabès, Jean-Pierre JP; Carrié, Alain A; van Heyningen, Charles C; Carreau, Valérie V; Farnier, Michel M; Teoh, Yee P YP; Bourbon, Mafalda M; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Soran, Handrean H; Marais, A David AD; Tada, Hayato H; Abifadel, Marianne M; Boileau, Catherine C; Chanu, Bernard B; Katsuda, Shoji S; Kishimoto, Ichiro I; Lambert, Gilles G; Makino, Hisashi H; Miyamoto, Yoshihiro Y; Pichelin, Matthieu M; Yagi, Kunimasa K; Yamagishi, Masakazu M; Zair, Yassine Y; Mellis, Scott S; Yancopoulos, George D GD; Stahl, Neil N; Mendoza, Johanna J; Du, Yunling Y; Hamon, Sara S; Krempf, Michel M; Swergold, Gary D GD

Publication Date: 2015-12

Variant appearance in text: PCSK9: Ser465Leu

PubMed Link: 26374825

Variant Present in the following documents:

• Main text

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