Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: F11: 403G>T; Glu135Ter
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08
Variant appearance in text: F11: 403G>T; Glu135Ter
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: F11: 403G>T; Glu135Ter; rs121965063
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19
Variant appearance in text: F11: 403G>T; Glu135Ter; rs121965063
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19
Variant appearance in text: F11: 403G>T; Glu135Ter; rs121965063
Anticoagulant therapy in patients with congenital FXI deficiency.
Blood Advances
Bravo-Pérez, Carlos C; Serna, María Jose MJ; Esteban, Julio J; Fernandez-Mellid, Eugenia E; Fontanes-Trabazo, Emilia E; Lorenzo, Alvaro A; Calviño-Suárez, Michael M; Miñano, Antonia A; Padilla, José J; Roldán, Vanessa V; Vicente, Vicente V; Corral, Javier J; de la Morena-Barrio, María Eugenia ME
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Journal Of Thrombosis And Haemostasis : Jth
Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019
Variant appearance in text: F11: 403G>T; Glu135Ter
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: F11: 403G>T; Glu135*; rs121965063
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Plos Genetics
Rivas, Manuel A MA; Avila, Brandon E BE; Koskela, Jukka J; Huang, Hailiang H; Stevens, Christine C; Pirinen, Matti M; Haritunians, Talin T; Neale, Benjamin M BM; Kurki, Mitja M; Ganna, Andrea A; Graham, Daniel D; Glaser, Benjamin B; Peter, Inga I; Atzmon, Gil G; Barzilai, Nir N; Levine, Adam P AP; Schiff, Elena E; Pontikos, Nikolas N; Weisburd, Ben B; Lek, Monkol M; Karczewski, Konrad J KJ; Bloom, Jonathan J; Minikel, Eric V EV; Petersen, Britt-Sabina BS; Beaugerie, Laurent L; Seksik, Philippe P; Cosnes, Jacques J; Schreiber, Stefan S; Bokemeyer, Bernd B; Bethge, Johannes J; , ; , ; , ; Heap, Graham G; Ahmad, Tariq T; Plagnol, Vincent V; Segal, Anthony W AW; Targan, Stephan S; Turner, Dan D; Saavalainen, Paivi P; Farkkila, Martti M; Kontula, Kimmo K; Palotie, Aarno A; Brant, Steven R SR; Duerr, Richard H RH; Silverberg, Mark S MS; Rioux, John D JD; Weersma, Rinse K RK; Franke, Andre A; Jostins, Luke L; Anderson, Carl A CA; Barrett, Jeffrey C JC; MacArthur, Daniel G DG; Jalas, Chaim C; Sokol, Harry H; Xavier, Ramnik J RJ; Pulver, Ann A; Cho, Judy H JH; McGovern, Dermot P B DPB; Daly, Mark J MJ
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.
Human Genome Variation
Tiscia, Giovanni L GL; Favuzzi, Giovanni G; Lupone, Maria R MR; Cappucci, Filomena F; Schiavulli, Michele M; Mirabelli, Valentina V; D'Andrea, Giovanna G; Chinni, Elena E; Giuliani, Nicola N; Caliandro, Rocco R; Grandone, Elvira E
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: F11: 403G>T; E135*; rs121965063
Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.
The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Külm, Maigi M; Gardner, Phyllis I PI; Pergament, Eugene P EP; Fiddler, Morris B MB