Publications:

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: MLXIPL: 2058+41G>A

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MLXIPL: 2058+41G>A; rs13247874

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs13247874

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-12.pdf

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Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

Nature Genetics

Kettunen, Johannes J; Tukiainen, Taru T; Sarin, Antti-Pekka AP; Ortega-Alonso, Alfredo A; Tikkanen, Emmi E; Lyytikäinen, Leo-Pekka LP; Kangas, Antti J AJ; Soininen, Pasi P; Würtz, Peter P; Silander, Kaisa K; Dick, Danielle M DM; Rose, Richard J RJ; Savolainen, Markku J MJ; Viikari, Jorma J; Kähönen, Mika M; Lehtimäki, Terho T; Pietiläinen, Kirsi H KH; Inouye, Michael M; McCarthy, Mark I MI; Jula, Antti A; Eriksson, Johan J; Raitakari, Olli T OT; Salomaa, Veikko V; Kaprio, Jaakko J; Järvelin, Marjo-Riitta MR; Peltonen, Leena L; Perola, Markus M; Freimer, Nelson B NB; Ala-Korpela, Mika M; Palotie, Aarno A; Ripatti, Samuli S

Publication Date: 2012-01-29

Variant appearance in text: rs13247874

PubMed Link: 22286219

Variant Present in the following documents:

• Main text

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