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: 694+2T>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes

Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I

Publication Date: 2022-01-15

Variant appearance in text: LDLR: 694+2T>C

PubMed Link: 35052492

Variant Present in the following documents:

• Main text
• genes-13-00153.pdf

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Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes

Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I

Publication Date: 2022-01-15

Variant appearance in text: LDLR: 694+2T>C

PubMed Link: 35052492

Variant Present in the following documents:

• Main text
• genes-13-00153.pdf

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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology

Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K

Publication Date: 2021-10

Variant appearance in text: LDLR: 694+2T>C

PubMed Link: 34407635

Variant Present in the following documents:

• Main text
• atv-41-2616-s001.pdf
• atv-41-2616.pdf

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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ

Publication Date: 2022-05-01

Variant appearance in text: rs200238879

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: LDLR: 694+2T>C

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM2_ESM.xlsx, sheet 1

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: 694+2T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: LDLR: 694+2T>C; rs200238879

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s003.xlsx, sheet 1
• pgen.1008409.s001.xlsx, sheet 1

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Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study.

International Journal Of Endocrinology And Metabolism

Daneshpour, Maryam S MS; Hedayati, Mehdi M; Sedaghati-Khayat, Bahareh B; Guity, Kamran K; Zarkesh, Maryam M; Akbarzadeh, Mahdi M; Javanrooh, Niloofar N; Zadeh-Vakili, Azita A; Azizi, Fereidoun F

Publication Date: 2018-10

Variant appearance in text: rs200238879

PubMed Link: 30584432

Variant Present in the following documents:

• Main text
• ijem-16-suppl04-84744.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 694+2T>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics

Gretarsdottir, Solveig S; Helgason, Hannes H; Helgadottir, Anna A; Sigurdsson, Asgeir A; Thorleifsson, Gudmar G; Magnusdottir, Audur A; Oddsson, Asmundur A; Steinthorsdottir, Valgerdur V; Rafnar, Thorunn T; de Graaf, Jacqueline J; Daneshpour, Maryam S MS; Hedayati, Mehdi M; Azizi, Fereidoun F; Grarup, Niels N; Jørgensen, Torben T; Vestergaard, Henrik H; Hansen, Torben T; Eyjolfsson, Gudmundur G; Sigurdardottir, Olof O; Olafsson, Isleifur I; Kiemeney, Lambertus A LA; Pedersen, Oluf O; Sulem, Patrick P; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Holm, Hilma H; Thorsteinsdottir, Unnur U; Stefansson, Kari K

Publication Date: 2015-09

Variant appearance in text: LDLR: 694+2T>C; rs200238879

PubMed Link: 26327206

Variant Present in the following documents:

• Main text
• pgen.1005379.pdf

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