Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: LIPG: 1426C>T; Arg476Trp; rs117623631

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: LIPG: R476W

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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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: LIPG: 1426C>T; Arg476Trp

PubMed Link: 32041611

Variant Present in the following documents:

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

View BVdb publication page

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs117623631

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: LIPG: R476W

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 1

View BVdb publication page

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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics

Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P

Publication Date: 2016-09-15

Variant appearance in text: rs117623631

PubMed Link: 27466198

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: LIPG: 1426C>T; R476W; rs117623631

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: LIPG: R476W; rs117623631

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

View BVdb publication page

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Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal Of Lipid Research

Sadananda, Singh N SN; Foo, Jia Nee JN; Toh, Meng Tiak MT; Cermakova, Lubomira L; Trigueros-Motos, Laia L; Chan, Teddy T; Liany, Herty H; Collins, Jennifer A JA; Gerami, Sima S; Singaraja, Roshni R RR; Hayden, Michael R MR; Francis, Gordon A GA; Frohlich, Jiri J; Khor, Chiea Chuen CC; Brunham, Liam R LR

Publication Date: 2015-10

Variant appearance in text: LIPG: 1426C>T; Arg476Trp; rs117623631

PubMed Link: 26255038

Variant Present in the following documents:

• Main text

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: LIPG: R476W; rs117623631

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics.

Clinical Lipidology

Larach, Daniel B DB; Cuchel, Marina M; Rader, Daniel J DJ

Publication Date: 2013-12

Variant appearance in text: LIPG: R476W

PubMed Link: 25374625

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics

Holmen, Oddgeir L OL; Zhang, He H; Fan, Yanbo Y; Hovelson, Daniel H DH; Schmidt, Ellen M EM; Zhou, Wei W; Guo, Yanhong Y; Zhang, Ji J; Langhammer, Arnulf A; Løchen, Maja-Lisa ML; Ganesh, Santhi K SK; Vatten, Lars L; Skorpen, Frank F; Dalen, Håvard H; Zhang, Jifeng J; Pennathur, Subramaniam S; Chen, Jin J; Platou, Carl C; Mathiesen, Ellisiv B EB; Wilsgaard, Tom T; Njølstad, Inger I; Boehnke, Michael M; Chen, Y Eugene YE; Abecasis, Gonçalo R GR; Hveem, Kristian K; Willer, Cristen J CJ

Publication Date: 2014-04

Variant appearance in text: LIPG: Arg476Trp

PubMed Link: 24633158

Variant Present in the following documents:

• Main text

View BVdb publication page

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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research

Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA

Publication Date: 2014-04

Variant appearance in text: LIPG: R476W; rs117623631

PubMed Link: 24503134

Variant Present in the following documents:

• supp_D045963_jlr.D045963-1.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: LIPG: R476W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs117623631

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

Plos One

Tietjen, Ian I; Hovingh, G Kees GK; Singaraja, Roshni R RR; Radomski, Chris C; Barhdadi, Amina A; McEwen, Jason J; Chan, Elden E; Mattice, Maryanne M; Legendre, Annick A; Franchini, Patrick L PL; Dubé, Marie-Pierre MP; Kastelein, John J P JJ; Hayden, Michael R MR

Publication Date: 2012

Variant appearance in text: LIPG: R476W

PubMed Link: 22952570

Variant Present in the following documents:

• Main text
• pone.0037437.pdf

View BVdb publication page

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Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.

The Journal Of Clinical Investigation

Edmondson, Andrew C AC; Brown, Robert J RJ; Kathiresan, Sekar S; Cupples, L Adrienne LA; Demissie, Serkalem S; Manning, Alisa Knodle AK; Jensen, Majken K MK; Rimm, Eric B EB; Wang, Jian J; Rodrigues, Amrith A; Bamba, Vaneeta V; Khetarpal, Sumeet A SA; Wolfe, Megan L ML; Derohannessian, Stephanie S; Li, Mingyao M; Reilly, Muredach P MP; Aberle, Jens J; Evans, David D; Hegele, Robert A RA; Rader, Daniel J DJ

Publication Date: 2009-04

Variant appearance in text: LIPG: Arg476Trp

PubMed Link: 19287092

Variant Present in the following documents:

• Main text

View BVdb publication page

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