Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: LDLR: 1733T>C; V578A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: V578A

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: LDLR: 1733T>C; Val578Ala

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4

View BVdb publication page

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Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Nature Genetics

Sidore, Carlo C; Busonero, Fabio F; Maschio, Andrea A; Porcu, Eleonora E; Naitza, Silvia S; Zoledziewska, Magdalena M; Mulas, Antonella A; Pistis, Giorgio G; Steri, Maristella M; Danjou, Fabrice F; Kwong, Alan A; Ortega Del Vecchyo, Vicente Diego VD; Chiang, Charleston W K CWK; Bragg-Gresham, Jennifer J; Pitzalis, Maristella M; Nagaraja, Ramaiah R; Tarrier, Brendan B; Brennan, Christine C; Uzzau, Sergio S; Fuchsberger, Christian C; Atzeni, Rossano R; Reinier, Frederic F; Berutti, Riccardo R; Huang, Jie J; Timpson, Nicholas J NJ; Toniolo, Daniela D; Gasparini, Paolo P; Malerba, Giovanni G; Dedoussis, George G; Zeggini, Eleftheria E; Soranzo, Nicole N; Jones, Chris C; Lyons, Robert R; Angius, Andrea A; Kang, Hyun M HM; Novembre, John J; Sanna, Serena S; Schlessinger, David D; Cucca, Francesco F; Abecasis, Gonçalo R GR

Publication Date: 2015-11

Variant appearance in text: LDLR: V578A; rs72658864

PubMed Link: 26366554

Variant Present in the following documents:

• Main text
• emss-64133.pdf

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Methods for association analysis and meta-analysis of rare variants in families.

Genetic Epidemiology

Feng, Shuang S; Pistis, Giorgio G; Zhang, He H; Zawistowski, Matthew M; Mulas, Antonella A; Zoledziewska, Magdalena M; Holmen, Oddgeir L OL; Busonero, Fabio F; Sanna, Serena S; Hveem, Kristian K; Willer, Cristen C; Cucca, Francesco F; Liu, Dajiang J DJ; Abecasis, Gonçalo R GR

Publication Date: 2015-05

Variant appearance in text: rs72658864

PubMed Link: 25740221

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

Plos Genetics

Sanna, Serena S; Li, Bingshan B; Mulas, Antonella A; Sidore, Carlo C; Kang, Hyun M HM; Jackson, Anne U AU; Piras, Maria Grazia MG; Usala, Gianluca G; Maninchedda, Giuseppe G; Sassu, Alessandro A; Serra, Fabrizio F; Palmas, Maria Antonietta MA; Wood, William H WH; Njølstad, Inger I; Laakso, Markku M; Hveem, Kristian K; Tuomilehto, Jaakko J; Lakka, Timo A TA; Rauramaa, Rainer R; Boehnke, Michael M; Cucca, Francesco F; Uda, Manuela M; Schlessinger, David D; Nagaraja, Ramaiah R; Abecasis, Gonçalo R GR

Publication Date: 2011-07

Variant appearance in text: LDLR: V578A; rs72658864

PubMed Link: 21829380

Variant Present in the following documents:

• Main text
• pgen.1002198.pdf

View BVdb publication page

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