Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: ITGB2: 1888G>A; Glu630Lys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

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

D'Alterio, Giuseppe G; Lasorsa, Vito Alessandro VA; Bonfiglio, Ferdinando F; Cantalupo, Sueva S; Rosato, Barbara Eleni BE; Andolfo, Immacolata I; Russo, Roberta R; Esposito, Umberto U; Frisso, Giulia G; Abete, Pasquale P; Cassese, Gian Marco GM; Servillo, Giuseppe G; Gentile, Ivan I; Piscopo, Carmelo C; Della Monica, Matteo M; Fiorentino, Giuseppe G; Boccia, Angelo A; Paolella, Giovanni G; Ferrucci, Veronica V; de Antonellis, Pasqualino P; Siciliano, Roberto R; Asadzadeh, Fathem F; Cerino, Pellegrino P; Buonerba, Carlo C; Pierri, Biancamaria B; Zollo, Massimo M; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2022-08

Variant appearance in text: ITGB2: 1888G>A; Glu630Lys; rs2230531

PubMed Link: 35511137

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One

Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: ITGB2: 1888G>A; Glu630Lys; rs2230531

PubMed Link: 35085295

Variant Present in the following documents:

• pone.0262419.s002.xlsx, sheet 1
• pone.0262419.s004.xlsx, sheet 1

View BVdb publication page

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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One

Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: ITGB2: 1888G>A; Glu630Lys; rs2230531

PubMed Link: 35085295

Variant Present in the following documents:

• pone.0262419.s002.xlsx, sheet 1
• pone.0262419.s004.xlsx, sheet 1

View BVdb publication page

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Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicates CXCR4 in inherited risk.

Journal Of Translational Genetics And Genomics

Feusier, Julie E JE; Madsen, Michael J MJ; Avery, Brian J BJ; Williams, Justin A JA; Stephens, Deborah M DM; Hu, Boyu B; Osman, Afaf E G AEG; Glenn, Martha J MJ; Camp, Nicola J NJ

Publication Date: 2021

Variant appearance in text: rs2230531

PubMed Link: 34368645

Variant Present in the following documents:

• Main text
• nihms-1720207.pdf

View BVdb publication page

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Differences between Well-Differentiated Neuroendocrine Tumors and Ductal Adenocarcinomas of the Pancreas Assessed by Multi-Omics Profiling.

International Journal Of Molecular Sciences

Starzyńska, Teresa T; Karczmarski, Jakub J; Paziewska, Agnieszka A; Kulecka, Maria M; Kuśnierz, Katarzyna K; Żeber-Lubecka, Natalia N; Ambrożkiewicz, Filip F; Mikula, Michał M; Kos-Kudła, Beata B; Ostrowski, Jerzy J

Publication Date: 2020-06-23

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 32586046

Variant Present in the following documents:

• ijms-21-04470-s001.xlsx, sheet 1

View BVdb publication page

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β2 Integrins-Multi-Functional Leukocyte Receptors in Health and Disease.

International Journal Of Molecular Sciences

Bednarczyk, Monika M; Stege, Henner H; Grabbe, Stephan S; Bros, Matthias M

Publication Date: 2020-02-19

Variant appearance in text: CD18: E630K

PubMed Link: 32092981

Variant Present in the following documents:

• Main text
• ijms-21-01402.pdf

View BVdb publication page

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Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.

Data In Brief

Russell, Mark W MW; Moldenhauer, Julie S JS; Rychik, Jack J; Burnham, Nancy B NB; Zullo, Erin E; Parry, Samuel I SI; Simmons, Rebecca A RA; Elovitz, Michal A MA; Nicolson, Susan C SC; Linn, Rebecca L RL; Johnson, Mark P MP; Yu, Sunkyung S; Sampson, Matthew G MG; Hakonarson, Hakon H; Gaynor, J William JW

Publication Date: 2019-08

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 31453292

Variant Present in the following documents:

• Main text
• main.pdf

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: ITGB2: 1888G>A; E630K; rs2230531

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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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Potentially functional genetic variants in the complement-related immunity gene-set are associated with non-small cell lung cancer survival.

International Journal Of Cancer

Qian, Danwen D; Liu, Hongliang H; Wang, Xiaomeng X; Ge, Jie J; Luo, Sheng S; Patz, Edward F EF; Moorman, Patricia G PG; Su, Li L; Shen, Sipeng S; Christiani, David C DC; Wei, Qingyi Q

Publication Date: 2019-04-15

Variant appearance in text: rs2230531

PubMed Link: 30259978

Variant Present in the following documents:

• Main text

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: ITGB2: 1888G>A; Glu630Lys; rs2230531

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

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Role of LFA-1 and ICAM-1 in Cancer.

Cancers

Reina, Manuel M; Espel, Enric E

Publication Date: 2017-11-03

Variant appearance in text: CD18: E630K

PubMed Link: 29099772

Variant Present in the following documents:

• Main text
• cancers-09-00153.pdf

View BVdb publication page

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Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies.

Blood

Blackburn, Nicholas B NB; Marthick, James R JR; Banks, Annette A; Charlesworth, Jac C JC; Marsden, Katherine A KA; Lowenthal, Ray M RM; Blangero, John J; Dickinson, Joanne L JL

Publication Date: 2017-07-06

Variant appearance in text: rs2230531

PubMed Link: 28490571

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: ITGB2: 1888G>A; Glu630Lys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility.

Blood

Goldin, Lynn R LR; McMaster, Mary L ML; Rotunno, Melissa M; Herman, Sarah E M SE; Jones, Kristine K; Zhu, Bin B; Boland, Joseph J; Burdett, Laurie L; Hicks, Belynda B; Ravichandran, Sarangan S; Luke, Brian T BT; Yeager, Meredith M; Fontaine, Laura L; Goldstein, Alisa M AM; Chanock, Stephen J SJ; Tucker, Margaret A MA; Wiestner, Adrian A; Marti, Gerald G; Caporaso, Neil E NE

Publication Date: 2016-11-03

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 27629550

Variant Present in the following documents:

• Main text

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ITGB2: E630K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: ITGB2: E630K; rs2230531

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 23

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: ITGB2: E630K

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.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: rs2230531

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Hematologically important mutations: leukocyte adhesion deficiency (first update).

Blood Cells, Molecules & Diseases

van de Vijver, Edith E; Maddalena, Anne A; Sanal, Özden Ö; Holland, Steven M SM; Uzel, Gulbu G; Madkaikar, Manisha M; de Boer, Martin M; van Leeuwen, Karin K; Köker, M Yavuz MY; Parvaneh, Nima N; Fischer, Alain A; Law, S K Alex SK; Klein, Nigel N; Tezcan, F Ilhan FI; Unal, Ekrem E; Patiroglu, Turkan T; Belohradsky, Bernd H BH; Schwartz, Klaus K; Somech, Raz R; Kuijpers, Taco W TW; Roos, Dirk D

Publication Date: 2012-01-15

Variant appearance in text: ITGB2: Glu630Lys

PubMed Link: 22134107

Variant Present in the following documents:

• Main text

View BVdb publication page

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