Publications:

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine

Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B

Publication Date: 2023-04-17

Variant appearance in text: ICAM1: 1432C>T; Arg478Trp; rs5030400

PubMed Link: 37066513

Variant Present in the following documents:

• EMMM-15-e17078-s005.xlsx, sheet 5

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: ICAM1: R478W

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 35

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: ICAM1: 1432C>T; R478W; rs5030400

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: ICAM1: R478W; rs5030400

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: ICAM1: R478W; rs5030400

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

View BVdb publication page

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: ICAM1: R478W; rs5030400

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2

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: rs5030400

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: ICAM1: R478W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: ICAM1: R478W; rs5030400

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

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: ICAM1: R478W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1
• NIHMS551112-supplement-19.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: rs5030400

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Scientific Reports

Duan, Jubao J; Shi, Jianxin J; Ge, Xijin X; Dölken, Lars L; Moy, Winton W; He, Deli D; Shi, Sandra S; Sanders, Alan R AR; Ross, Jeff J; Gejman, Pablo V PV

Publication Date: 2013

Variant appearance in text: ICAM1: R478W; rs5030400

PubMed Link: 23422947

Variant Present in the following documents:

• srep01318-s2.xls, sheet 7

View BVdb publication page

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Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.

Annals Of The Rheumatic Diseases

Kim, Kwangwoo K; Brown, Elizabeth E EE; Choi, Chan-Bum CB; Alarcón-Riquelme, Marta E ME; , ; Kelly, Jennifer A JA; Glenn, Stuart B SB; Ojwang, Joshua O JO; Adler, Adam A; Lee, Hye-Soon HS; Boackle, Susan A SA; Criswell, Lindsey A LA; Alarcón, Graciela S GS; Edberg, Jeffrey C JC; Stevens, Anne M AM; Jacob, Chaim O CO; Gilkeson, Gary S GS; Kamen, Diane L DL; Tsao, Betty P BP; Anaya, Juan-Manuel JM; Guthridge, Joel M JM; Nath, Swapan K SK; Richardson, Bruce B; Sawalha, Amr H AH; Kang, Young Mo YM; Shim, Seung Cheol SC; Suh, Chang-Hee CH; Lee, Soo-Kon SK; Kim, Chang-sik CS; Merrill, Joan T JT; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Vilá, Luis M LM; Niewold, Timothy B TB; Martin, Javier J; Pons-Estel, Bernardo A BA; , ; Vyse, Timothy J TJ; Freedman, Barry I BI; Moser, Kathy L KL; Gaffney, Patrick M PM; Williams, Adrienne A; Comeau, Mary M; Reveille, John D JD; James, Judith A JA; Scofield, R Hal RH; Langefeld, Carl D CD; Kaufman, Kenneth M KM; Harley, John B JB; Kang, Changwon C; Kimberly, Robert P RP; Bae, Sang-Cheol SC

Publication Date: 2012-11

Variant appearance in text: rs5030400

PubMed Link: 22523428

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variation in the ICAM1 gene is not associated with severe malaria phenotypes.

Genes And Immunity

Fry, A E AE; Auburn, S S; Diakite, M M; Green, A A; Richardson, A A; Wilson, J J; Jallow, M M; Sisay-Joof, F F; Pinder, M M; Griffiths, M J MJ; Peshu, N N; Williams, T N TN; Marsh, K K; Molyneux, M E ME; Taylor, T E TE; Rockett, K A KA; Kwiatkowski, D P DP

Publication Date: 2008-07

Variant appearance in text: rs5030400

PubMed Link: 18528404

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction of P2 purinergic receptors with cellular macromolecules.

Naunyn-Schmiedeberg'S Archives Of Pharmacology

Köles, Laszlo L; Gerevich, Zoltan Z; Oliveira, João Felipe JF; Zadori, Zoltan Sandor ZS; Wirkner, Kerstin K; Illes, Peter P

Publication Date: 2008-03

Variant appearance in text: rs5030400

PubMed Link: 18273661

Variant Present in the following documents:

• 210_2008_Article_275.pdf

View BVdb publication page

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