Publications:

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

The Journal Of Biological Chemistry

Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF

Publication Date: 2022-09

Variant appearance in text: LDLR: D748N

PubMed Link: 35863433

Variant Present in the following documents:

• mmc4.xlsx, sheet 11

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Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal

Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF

Publication Date: 2022

Variant appearance in text: LDLR: 2242G>A

PubMed Link: 34875256

Variant Present in the following documents:

• Main text
• main.pdf

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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications

Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G

Publication Date: 2021-10-06

Variant appearance in text: LDLR: D748N

PubMed Link: 34615865

Variant Present in the following documents:

• 41467_2021_26114_MOESM5_ESM.xlsx, sheet 1

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications

Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS

Publication Date: 2021-06-09

Variant appearance in text: LDLR: 2242G>A; Asp748Asn

PubMed Link: 34108472

Variant Present in the following documents:

• 41467_2021_23556_MOESM3_ESM.xlsx, sheet 2

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H

Publication Date: 2015-02

Variant appearance in text: LDLR: D748N

PubMed Link: 25647241

Variant Present in the following documents:

• pgen.1004855.s019.xlsx, sheet 1

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