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: LILRB5: D247G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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The cholesterol-lowering effect of statins is modified by LILRB5 intolerance genotype: Results from a recruit-by-genotype clinical trial.

Frontiers In Pharmacology

Tornio, Aleksi A; Bigossi, Margherita M; Siddiqui, Moneeza K MK; Kennedy, Gwen G; Melhem, Ala'a A; Chourasia, Mehul K MK; Maroteau, Cyrielle C; Pola, Roberto R; Chasman, Daniel I DI; Doney, Alexander S F ASF; Palmer, Colin N A CNA

Publication Date: 2023

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 36998609

Variant Present in the following documents:

• Main text
• fphar-14-1090010.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs12975366

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: LILRB5: D247G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.

Circulation. Genomic And Precision Medicine

Murphy, William A WA; Lin, Nan N; Damask, Amy A; Schwartz, Gregory G GG; Steg, P Gabriel PG; Szarek, Michael M; Banerjee, Poulabi P; Fazio, Sergio S; Manvelian, Garen G; Pordy, Robert R; Shuldiner, Alan R AR; Paulding, Charles C

Publication Date: 2022-06

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 35543701

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early experience with an opt-in research register - Scottish Health Research Register (SHARE): a multi-method evaluation of participant recruitment performance.

Bmc Medical Research Methodology

Shi, Wen W; Vasishta, Shobna S; Dow, Louise L; Cavellini, Daniella D; Palmer, Colin C; McKinstry, Brian B; Sullivan, Frank F

Publication Date: 2021-12-20

Variant appearance in text: rs12975366

PubMed Link: 34930144

Variant Present in the following documents:

• Main text
• 12874_2021_Article_1479.pdf

View BVdb publication page

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Early experience with an opt-in research register - Scottish Health Research Register (SHARE): a multi-method evaluation of participant recruitment performance.

Bmc Medical Research Methodology

Shi, Wen W; Vasishta, Shobna S; Dow, Louise L; Cavellini, Daniella D; Palmer, Colin C; McKinstry, Brian B; Sullivan, Frank F

Publication Date: 2021-12-20

Variant appearance in text: rs12975366

PubMed Link: 34930144

Variant Present in the following documents:

• Main text
• 12874_2021_Article_1479.pdf

View BVdb publication page

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Statin-Associated Myopathy: Emphasis on Mechanisms and Targeted Therapy.

International Journal Of Molecular Sciences

Vinci, Pierandrea P; Panizon, Emiliano E; Tosoni, Letizia Maria LM; Cerrato, Carla C; Pellicori, Federica F; Mearelli, Filippo F; Biasinutto, Chiara C; Fiotti, Nicola N; Di Girolamo, Filippo Giorgio FG; Biolo, Gianni G

Publication Date: 2021-10-28

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 34769118

Variant Present in the following documents:

• Main text
• ijms-22-11687.pdf

View BVdb publication page

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Common Statin Intolerance Variants in ABCB1 and LILRB5 Show Synergistic Effects on Statin Response: An Observational Study Using Electronic Health Records.

Frontiers In Genetics

Melhem, Alaa' Lutfi AL; Chourasia, Mehul Kumar MK; Bigossi, Margherita M; Maroteau, Cyrielle C; Taylor, Alasdair A; Pola, Roberto R; Dawed, Adem Y AY; Tornio, Aleksi A; Palmer, Colin N A CNA; Siddiqui, Moneeza K MK

Publication Date: 2021

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 34659336

Variant Present in the following documents:

• Main text
• fgene-12-713181.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: LILRB5: 740A>G; rs12975366

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: LILRB5: 740A>G; D247G; rs12975366

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Pharmacogenomics for Primary Care: An Overview.

Genes

Rollinson, Victoria V; Turner, Richard R; Pirmohamed, Munir M

Publication Date: 2020-11-12

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 33198260

Variant Present in the following documents:

• Main text
• genes-11-01337.pdf

View BVdb publication page

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Pharmacogenetics of Statin-Induced Myotoxicity.

Frontiers In Genetics

Kee, Ping Siu PS; Chin, Paul Ken Leong PKL; Kennedy, Martin A MA; Maggo, Simran D S SDS

Publication Date: 2020

Variant appearance in text: rs12975366

PubMed Link: 33193687

Variant Present in the following documents:

• Main text

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: LILRB5: 740A>G; Asp247Gly

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs12975366

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology

Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ

Publication Date: 2020-04

Variant appearance in text: rs12975366

PubMed Link: 31884074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

Journal Of Clinical Medicine

Turner, Richard Myles RM; Pirmohamed, Munir M

Publication Date: 2019-12-20

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 31861911

Variant Present in the following documents:

• Main text

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: rs12975366

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

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: LILRB5: D247G; rs12975366

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications

Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,

Publication Date: 2019-09-24

Variant appearance in text: rs12975366

PubMed Link: 31551420

Variant Present in the following documents:

• 41467_2019_12026_MOESM1_ESM.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs12975366

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: LILRB5: 740A>G; rs12975366

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Role of genetics in the prediction of statin-associated muscle symptoms and optimization of statin use and adherence.

Cardiovascular Research

Brunham, Liam R LR; Baker, Steven S; Mammen, Andrew A; Mancini, G B John GBJ; Rosenson, Robert S RS

Publication Date: 2018-07-01

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 29878063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect modification by region in the associations of LEP G2548A and LEPR Q223R polymorphisms with statin-induced CK elevation.

Oncotarget

Jiang, Shanqun S; Venners, Scott A SA; Li, Kang K; Hsu, Yi-Hsiang YH; Weinstock, Justin J; Zou, Yanfeng Y; Pan, Faming F; Xu, Xiping X

Publication Date: 2017-12-08

Variant appearance in text: rs12975366

PubMed Link: 29296187

Variant Present in the following documents:

• Main text
• oncotarget-08-107565.pdf

View BVdb publication page

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A common missense variant of LILRB5 is associated with statin intolerance and myalgia.

European Heart Journal

K Siddiqui, Moneeza M; Maroteau, Cyrielle C; Veluchamy, Abirami A; Tornio, Aleksi A; Tavendale, Roger R; Carr, Fiona F; Abelega, Ngu-Uma NU; Carr, Dan D; Bloch, Katyrzyna K; Hallberg, Par P; Yue, Qun-Ying QY; Pearson, Ewan R ER; Colhoun, Helen M HM; Morris, Andrew D AD; Dow, Eleanor E; George, Jacob J; Pirmohamed, Munir M; Ridker, Paul M PM; Doney, Alex S F ASF; Alfirevic, Ana A; Wadelius, Mia M; Maitland-van der Zee, Anke-Hilse AH; Chasman, Daniel I DI; Palmer, Colin N A CNA; ,

Publication Date: 2017-12-21

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 29020356

Variant Present in the following documents:

• Main text
• ehx467.pdf

View BVdb publication page

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One

Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A

Publication Date: 2017

Variant appearance in text: LILRB5: 740A>G; Asp247Gly

PubMed Link: 28472130

Variant Present in the following documents:

• pone.0176516.s002.xlsx, sheet 1

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

Nature Communications

Kristjansson, Ragnar P RP; Oddsson, Asmundur A; Helgason, Hannes H; Sveinbjornsson, Gardar G; Arnadottir, Gudny A GA; Jensson, Brynjar O BO; Jonasdottir, Aslaug A; Jonasdottir, Adalbjorg A; Bragi Walters, G G; Sulem, Gerald G; Oskarsdottir, Arna A; Benonisdottir, Stefania S; Davidsson, Olafur B OB; Masson, Gisli G; Magnusson, Olafur Th OT; Holm, Hilma H; Sigurdardottir, Olof O; Jonsdottir, Ingileif I; Eyjolfsson, Gudmundur I GI; Olafsson, Isleifur I; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2016-02-03

Variant appearance in text: LILRB5: Asp247Gly; rs12975366

PubMed Link: 26838040

Variant Present in the following documents:

• Main text
• ncomms10572-s1.pdf
• ncomms10572.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs12975366

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: LILRB5: D247G; rs12975366

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LILRB5: D247G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: LILRB5: D247G

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, 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: LILRB5: D247G; rs12975366

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs12975366

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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