Publications:

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M

Publication Date: 2014-12

Variant appearance in text: LDLR: Leu575Leu

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: LDLR: L575L

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: LDLR: L575L

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 4

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Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal

Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,

Publication Date: 2012

Variant appearance in text: LDLR: L575L

PubMed Link: 25134189

Variant Present in the following documents:

• Main text

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