Publications:

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Blood group typing from whole-genome sequencing data.

Plos One

Paganini, Julien J; Nagy, Peter L PL; Rouse, Nicholas N; Gouret, Philippe P; Chiaroni, Jacques J; Picard, Chistophe C; Di Cristofaro, Julie J

Publication Date: 2020

Variant appearance in text: ICAM4: Gln100Arg

PubMed Link: 33180819

Variant Present in the following documents:

• Main text
• pone.0242168.pdf

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Next-Generation Sequencing Technologies in Blood Group Typing.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Fürst, Daniel D; Tsamadou, Chrysanthi C; Neuchel, Christine C; Schrezenmeier, Hubert H; Mytilineos, Joannis J; Weinstock, Christof C

Publication Date: 2020-02

Variant appearance in text: rs77493670

PubMed Link: 32110189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

The Journal Of Molecular Diagnostics : Jmd

Volkova, Evgeniya E; Sippert, Emilia E; Liu, Meihong M; Mercado, Teresita T; Denomme, Gregory A GA; Illoh, Orieji O; Liu, Zhugong Z; Rios, Maria M; ,

Publication Date: 2019-05

Variant appearance in text: ICAM4: 299A>G

PubMed Link: 30872185

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low-Frequency Blood Group Antigens in Switzerland.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Gassner, Christoph C; Degenhardt, Frauke F; Meyer, Stefan S; Vollmert, Caren C; Trost, Nadine N; Neuenschwander, Kathrin K; Merki, Yvonne Y; Portmann, Claudia C; Sigurdardottir, Sonja S; Zorbas, Antigoni A; Engström, Charlotte C; Gottschalk, Jochen J; Amar El Dusouqui, Soraya S; Waldvogel-Abramovski, Sophie S; Rigal, Emmanuel E; Tissot, Jean-Daniel JD; Tinguely, Caroline C; Mauvais, Simon M SM; Sarraj, Amira A; Bessero, Daniel D; Stalder, Michele M; Infanti, Laura L; Buser, Andreas A; Sigle, Jörg J; Weingand, Tina T; Castelli, Damiano D; Braisch, Monica C MC; Thierbach, Jutta J; Heer, Sonja S; Schulzki, Thomas T; Krawczak, Michael M; Franke, Andre A; Frey, Beat M BM

Publication Date: 2018-07

Variant appearance in text: rs77493670

PubMed Link: 30283273

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Impact of Using Genotyped Reagent Red Blood Cells in Antibody Identification.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Scharberg, Erwin E; Rink, Gabi G; Portegys, Jan J; Rothenberger, Sina S; Gillhuber, Nicole N; Richter, Ekkehard E; Bugert, Peter P

Publication Date: 2018-07

Variant appearance in text: rs77493670

PubMed Link: 30283270

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: ICAM4: 299A>G; Gln100Arg

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, 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: ICAM4: Q100R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: ICAM4: Q100R; rs77493670

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 9
• pgen.1004772.s004.xlsx, sheet 40

View BVdb publication page

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Genetic variation of the whole ICAM4 gene in Caucasians and African Americans.

Transfusion

Srivastava, Kshitij K; Almarry, Noorah Salman NS; Flegel, Willy A WA

Publication Date: 2014-09

Variant appearance in text: ICAM4: 299A>G; Q100R; rs77493670

PubMed Link: 24673173

Variant Present in the following documents:

• Main text

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: ICAM4: Q100R; rs77493670

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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