Publications:

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: ABCA1: 6138T>A; Ser2046Arg

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: ABCA1: S2046R

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.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: ABCA1: 6138T>A; Ser2046Arg

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery.

Frontiers In Medicine

Corbett, James L JL; Duncan, Stephen A SA

Publication Date: 2019

Variant appearance in text: ABCA1: S2046R

PubMed Link: 31803747

Variant Present in the following documents:

• Main text
• fmed-06-00265.pdf

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ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion.

Ebiomedicine

Bi, Xin X; Pashos, Evanthia E EE; Cuchel, Marina M; Lyssenko, Nicholas N NN; Hernandez, Mayda M; Picataggi, Antonino A; McParland, James J; Yang, Wenli W; Liu, Ying Y; Yan, Ruilan R; Yu, Christopher C; DerOhannessian, Stephanie L SL; Phillips, Michael C MC; Morrisey, Edward E EE; Duncan, Stephen A SA; Rader, Daniel J DJ

Publication Date: 2017-04

Variant appearance in text: ABCA1: S2046R

PubMed Link: 28330813

Variant Present in the following documents:

• Main text
• main.pdf

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