Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: LMF1: R354W

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Nature Medicine

Rosenson, Robert S RS; Gaudet, Daniel D; Ballantyne, Christie M CM; Baum, Seth J SJ; Bergeron, Jean J; Kershaw, Erin E EE; Moriarty, Patrick M PM; Rubba, Paolo P; Whitcomb, David C DC; Banerjee, Poulabi P; Gewitz, Andrew A; Gonzaga-Jauregui, Claudia C; McGinniss, Jennifer J; Ponda, Manish P MP; Pordy, Robert R; Zhao, Jian J; Rader, Daniel J DJ

Publication Date: 2023-03-06

Variant appearance in text: LMF1: R354W

PubMed Link: 36879129

Variant Present in the following documents:

• 41591_2023_2222_MOESM1_ESM.pdf

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: LMF1: 1060C>T; Arg354Trp

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia.

Lipids In Health And Disease

Cruz-Bautista, Ivette I; Huerta-Chagoya, Alicia A; Moreno-Macías, Hortensia H; Rodríguez-Guillén, Rosario R; Ordóñez-Sánchez, María Luisa ML; Segura-Kato, Yayoi Y; Mehta, Roopa R; Almeda-Valdés, Paloma P; Gómez-Munguía, Lizeth L; Ruiz-De Chávez, Ximena X; Rosas-Flota, Ximena X; Andrade-Amado, Arali A; Bernal-Barroeta, Bárbara B; López-Carrasco, María Guadalupe MG; Guillén-Pineda, Luz Elizabeth LE; López-Estrada, Angelina A; Elías-López, Daniel D; Martagón-Rosado, Alexandro J AJ; Gómez-Velasco, Donají D; Lam-Chung, Cesar Ernesto CE; Bello-Chavolla, Omar Yaxmehen OY; Del Razo-Olvera, Fabiola F; Cetina-Pérez, Lucely D LD; Acosta-Rodríguez, José Luis JL; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA

Publication Date: 2021-02-15

Variant appearance in text: rs143076454

PubMed Link: 33588820

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1436.pdf

View BVdb publication page

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Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.

Molecular Genetics And Metabolism Reports

Plengpanich, Wanee W; Muanpetch, Suwanna S; Charoen, Supannika S; Kiateprungvej, Arunrat A; Khovidhunkit, Weerapan W

Publication Date: 2020-06

Variant appearance in text: LMF1: Arg354Trp

PubMed Link: 32190547

Variant Present in the following documents:

• Main text
• main.pdf

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: LMF1: 1060C>T; Arg354Trp

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: LMF1: Arg354Trp

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: LMF1: R354W; rs143076454

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation.

Cancer Letters

Hayes, Tyler F TF; Benaich, Nathan N; Goldie, Stephen J SJ; Sipilä, Kalle K; Ames-Draycott, Ashley A; Cai, Wenjun W; Yin, Guangliang G; Watt, Fiona M FM

Publication Date: 2016-12-01

Variant appearance in text: LMF1: R354W; rs143076454

PubMed Link: 27693639

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lipids In Health And Disease

Lamiquiz-Moneo, Itziar I; Blanco-Torrecilla, Cristian C; Bea, Ana M AM; Mateo-Gallego, Rocío R; Pérez-Calahorra, Sofía S; Baila-Rueda, Lucía L; Cenarro, Ana A; Civeira, Fernando F; de Castro-Orós, Isabel I

Publication Date: 2016-04-23

Variant appearance in text: LMF1: Arg354Trp

PubMed Link: 27108409

Variant Present in the following documents:

• Main text
• 12944_2016_Article_251.pdf

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs143076454

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: LMF1: R354W

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: LMF1: R354W; rs143076454

PubMed Link: 24503134

Variant Present in the following documents:

• supp_D045963_jlr.D045963-1.pdf

View BVdb publication page

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Nature Genetics

Rivière, Jean-Baptiste JB; Mirzaa, Ghayda M GM; O'Roak, Brian J BJ; Beddaoui, Margaret M; Alcantara, Diana D; Conway, Robert L RL; St-Onge, Judith J; Schwartzentruber, Jeremy A JA; Gripp, Karen W KW; Nikkel, Sarah M SM; Worthylake, Thea T; Sullivan, Christopher T CT; Ward, Thomas R TR; Butler, Hailly E HE; Kramer, Nancy A NA; Albrecht, Beate B; Armour, Christine M CM; Armstrong, Linlea L; Caluseriu, Oana O; Cytrynbaum, Cheryl C; Drolet, Beth A BA; Innes, A Micheil AM; Lauzon, Julie L JL; Lin, Angela E AE; Mancini, Grazia M S GM; Meschino, Wendy S WS; Reggin, James D JD; Saggar, Anand K AK; Lerman-Sagie, Tally T; Uyanik, Gökhan G; Weksberg, Rosanna R; Zirn, Birgit B; Beaulieu, Chandree L CL; , ; Majewski, Jacek J; Bulman, Dennis E DE; O'Driscoll, Mark M; Shendure, Jay J; Graham, John M JM; Boycott, Kym M KM; Dobyns, William B WB

Publication Date: 2012-06-24

Variant appearance in text: LMF1: Arg354Trp

PubMed Link: 22729224

Variant Present in the following documents:

• NIHMS382270-supplement-1.pdf

View BVdb publication page

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Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Journal Of Internal Medicine

Surendran, R P RP; Visser, M E ME; Heemelaar, S S; Wang, J J; Peter, J J; Defesche, J C JC; Kuivenhoven, J A JA; Hosseini, M M; Péterfy, M M; Kastelein, J J P JJ; Johansen, C T CT; Hegele, R A RA; Stroes, E S G ES; Dallinga-Thie, G M GM

Publication Date: 2012-08

Variant appearance in text: LMF1: 1060C>T; Arg354Trp

PubMed Link: 22239554

Variant Present in the following documents:

• Main text

View BVdb publication page

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