Publications:

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POIROT: A powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes.

Bioinformatics (Oxford, England)

Head, S Taylor ST; Leslie, Elizabeth J EJ; Cutler, David J DJ; Epstein, Michael P MP

Publication Date: 2023-04-17

Variant appearance in text: rs41360247

PubMed Link: 37067493

Variant Present in the following documents:

• Main text
• btad199.pdf

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Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.

Nature Communications

Scholz, Markus M; Horn, Katrin K; Pott, Janne J; Gross, Arnd A; Kleber, Marcus E ME; Delgado, Graciela E GE; Mishra, Pashupati Prasad PP; Kirsten, Holger H; Gieger, Christian C; Müller-Nurasyid, Martina M; Tönjes, Anke A; Kovacs, Peter P; Lehtimäki, Terho T; Raitakari, Olli O; Kähönen, Mika M; Gylling, Helena H; Baber, Ronny R; Isermann, Berend B; Stumvoll, Michael M; Loeffler, Markus M; März, Winfried W; Meitinger, Thomas T; Peters, Annette A; Thiery, Joachim J; Teupser, Daniel D; Ceglarek, Uta U

Publication Date: 2022-01-10

Variant appearance in text: rs41360247

PubMed Link: 35013273

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27706.pdf

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Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.

Nature Communications

Scholz, Markus M; Horn, Katrin K; Pott, Janne J; Gross, Arnd A; Kleber, Marcus E ME; Delgado, Graciela E GE; Mishra, Pashupati Prasad PP; Kirsten, Holger H; Gieger, Christian C; Müller-Nurasyid, Martina M; Tönjes, Anke A; Kovacs, Peter P; Lehtimäki, Terho T; Raitakari, Olli O; Kähönen, Mika M; Gylling, Helena H; Baber, Ronny R; Isermann, Berend B; Stumvoll, Michael M; Loeffler, Markus M; März, Winfried W; Meitinger, Thomas T; Peters, Annette A; Thiery, Joachim J; Teupser, Daniel D; Ceglarek, Uta U

Publication Date: 2022-01-10

Variant appearance in text: rs41360247

PubMed Link: 35013273

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27706.pdf

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Associations between SNPs in Intestinal Cholesterol Absorption and Endogenous Cholesterol Synthesis Genes with Cholesterol Metabolism.

Biomedicines

Schroor, Maite M MM; Mokhtar, Fatma B A FBA; Plat, Jogchum J; Mensink, Ronald P RP

Publication Date: 2021-10-14

Variant appearance in text: rs41360247

PubMed Link: 34680591

Variant Present in the following documents:

• Main text
• biomedicines-09-01475.pdf

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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: ABCG8: 322+206T>C

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules

Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E

Publication Date: 2019-11-29

Variant appearance in text: rs41360247

PubMed Link: 31795497

Variant Present in the following documents:

• Main text
• biomolecules-09-00807.pdf

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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: ABCG8: 322+206T>C; rs41360247

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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The Lipid-lowering Effects and Associated Mechanisms of Dietary Phytosterol Supplementation.

Current Pharmaceutical Design

Dumolt, Jerad H JH; Rideout, Todd C TC

Publication Date: 2017

Variant appearance in text: rs41360247

PubMed Link: 28745211

Variant Present in the following documents:

• Main text

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Plant sterol enriched functional food and atherosclerosis.

British Journal Of Pharmacology

Köhler, Jürgen J; Teupser, Daniel D; Elsässer, Albrecht A; Weingärtner, Oliver O

Publication Date: 2017-06

Variant appearance in text: rs41360247

PubMed Link: 28253422

Variant Present in the following documents:

• Main text

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Coherent somatic mutation in autoimmune disease.

Plos One

Ross, Kenneth Andrew KA

Publication Date: 2014

Variant appearance in text: rs41360247

PubMed Link: 24988487

Variant Present in the following documents:

• Main text
• pone.0101093.pdf

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Non-cholesterol sterol levels predict hyperglycemia and conversion to type 2 diabetes in Finnish men.

Plos One

Cederberg, Henna H; Gylling, Helena H; Miettinen, Tatu A TA; Paananen, Jussi J; Vangipurapu, Jagadish J; Pihlajamäki, Jussi J; Kuulasmaa, Teemu T; Stančáková, Alena A; Smith, Ulf U; Kuusisto, Johanna J; Laakso, Markku M

Publication Date: 2013

Variant appearance in text: rs41360247

PubMed Link: 23840693

Variant Present in the following documents:

• Main text
• pone.0067406.pdf

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Abundant pleiotropy in human complex diseases and traits.

American Journal Of Human Genetics

Sivakumaran, Shanya S; Agakov, Felix F; Theodoratou, Evropi E; Prendergast, James G JG; Zgaga, Lina L; Manolio, Teri T; Rudan, Igor I; McKeigue, Paul P; Wilson, James F JF; Campbell, Harry H

Publication Date: 2011-11-11

Variant appearance in text: rs41360247

PubMed Link: 22077970

Variant Present in the following documents:

• Main text

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: ABCG8: 322+206T>C; rs41360247

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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