Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.
Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Etiology of Persistent Microalbuminuria in Nigeria (P_MICRO study): protocol and study design.
Bmc Infectious Diseases
Wester, C William CW; Shepherd, Bryan E BE; Wudil, Usman J UJ; Musa, Baba Maiyaki BM; Ingles, Donna J DJ; Prigmore, Heather L HL; Dankishiya, Faisal S FS; Ahonkhai, Aima A AA; Grema, Bukar A BA; Budge, Philip J PJ; Takakura, Ayumi A; Olabisi, Opeyemi A OA; Winkler, Cheryl A CA; Kopp, Jeffrey B JB; Bonventre, Joseph V JV; Wyatt, Christina M CM; Aliyu, Muktar H MH
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Plos One
Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A
IFN-λ4 is associated with increased risk and earlier occurrence of several common infections in African children.
Genes And Immunity
Prokunina-Olsson, Ludmila L; Morrison, Robert D RD; Obajemu, Adeola A; Mahamar, Almahamoudou A; Kim, Sungduk S; Attaher, Oumar O; Florez-Vargas, Oscar O; Sidibe, Youssoufa Y; Onabajo, Olusegun O OO; Hutchinson, Amy A AA; Manning, Michelle M; Kwan, Jennifer J; Brand, Nathan N; Dicko, Alassane A; Fried, Michal M; Albert, Paul S PS; Mbulaiteye, Sam M SM; Duffy, Patrick E PE
Genetic variation in the immune system and malaria susceptibility in infants: a nested case-control study in Nanoro, Burkina Faso.
Malaria Journal
Natama, Hamatandi Magloire HM; Rovira-Vallbona, Eduard E; Krit, Meryam M; Guetens, Pieter P; Sorgho, Hermann H; Somé, M Athanase MA; Traoré-Coulibaly, Maminata M; Valéa, Innocent I; Mens, Petra F PF; Schallig, Henk D F H HDFH; Berkvens, Dirk D; Kestens, Luc L; Tinto, Halidou H; Rosanas-Urgell, Anna A
High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.
Experimental Biology And Medicine (Maywood, N.J.)
Amuzu, Dominic Sy DS; Rockett, Kirk A KA; Leffler, Ellen M EM; Ansah, Felix F; Amoako, Nicholas N; Morang'a, Collins M CM; Hubbart, Christina C; Rowlands, Kate K; Jeffreys, Anna E AE; Amenga-Etego, Lucas N LN; Kwiatkowski, Dominic P DP; Awandare, Gordon A GA
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Plos Genetics
Kowalski, Madeline H MH; Qian, Huijun H; Hou, Ziyi Z; Rosen, Jonathan D JD; Tapia, Amanda L AL; Shan, Yue Y; Jain, Deepti D; Argos, Maria M; Arnett, Donna K DK; Avery, Christy C; Barnes, Kathleen C KC; Becker, Lewis C LC; Bien, Stephanie A SA; Bis, Joshua C JC; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Buyske, Steve S; Cai, Jianwen J; Cho, Michael H MH; Choi, Seung Hoan SH; Choquet, Hélène H; Cupples, L Adrienne LA; Cushman, Mary M; Daya, Michelle M; de Vries, Paul S PS; Ellinor, Patrick T PT; Faraday, Nauder N; Fornage, Myriam M; Gabriel, Stacey S; Ganesh, Santhi K SK; Graff, Misa M; Gupta, Namrata N; He, Jiang J; Heckbert, Susan R SR; Hidalgo, Bertha B; Hodonsky, Chani J CJ; Irvin, Marguerite R MR; Johnson, Andrew D AD; Jorgenson, Eric E; Kaplan, Robert R; Kardia, Sharon L R SLR; Kelly, Tanika N TN; Kooperberg, Charles C; Lasky-Su, Jessica A JA; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mathias, Rasika A RA; McHugh, Caitlin P CP; Montgomery, Courtney C; Moon, Jee-Young JY; Morrison, Alanna C AC; Palmer, Nicholette D ND; Pankratz, Nathan N; Papanicolaou, George J GJ; Peralta, Juan M JM; Peyser, Patricia A PA; Rich, Stephen S SS; Rotter, Jerome I JI; Silverman, Edwin K EK; Smith, Jennifer A JA; Smith, Nicholas L NL; Taylor, Kent D KD; Thornton, Timothy A TA; Tiwari, Hemant K HK; Tracy, Russell P RP; Wang, Tao T; Weiss, Scott T ST; Weng, Lu-Chen LC; Wiggins, Kerri L KL; Wilson, James G JG; Yanek, Lisa R LR; Zöllner, Sebastian S; North, Kari E KE; Auer, Paul L PL; , ; , ; Raffield, Laura M LM; Reiner, Alexander P AP; Li, Yun Y
A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.
Scientific Reports
Tsao, David S DS; Silas, Sukrit S; Landry, Brian P BP; Itzep, Nelda P NP; Nguyen, Amy B AB; Greenberg, Samuel S; Kanne, Celeste K CK; Sheehan, Vivien A VA; Sharma, Rani R; Shukla, Rahul R; Arora, Prem N PN; Atay, Oguzhan O
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Thirty-year risk of ischemic stroke in individuals with sickle cell trait and modification by chronic kidney disease: The atherosclerosis risk in communities (ARIC) study.
American Journal Of Hematology
Caughey, Melissa C MC; Derebail, Vimal K VK; Key, Nigel S NS; Reiner, Alexander P AP; Gottesman, Rebecca F RF; Kshirsagar, Abhijit V AV; Heiss, Gerardo G
Development and evaluation of a transfusion medicine genome wide genotyping array.
Transfusion
Guo, Yuelong Y; Busch, Michael P MP; Seielstad, Mark M; Endres-Dighe, Stacy S; Westhoff, Connie M CM; Keating, Brendan B; Hoppe, Carolyn C; Bordbar, Aarash A; Custer, Brian B; Butterworth, Adam S AS; Kanias, Tamir T; Mast, Alan E AE; Kleinman, Steve S; Lu, Yontao Y; Page, Grier P GP; ,
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.
Plos Genetics
Raffield, Laura M LM; Ulirsch, Jacob C JC; Naik, Rakhi P RP; Lessard, Samuel S; Handsaker, Robert E RE; Jain, Deepti D; Kang, Hyun M HM; Pankratz, Nathan N; Auer, Paul L PL; Bao, Erik L EL; Smith, Joshua D JD; Lange, Leslie A LA; Lange, Ethan M EM; Li, Yun Y; Thornton, Timothy A TA; Young, Bessie A BA; Abecasis, Goncalo R GR; Laurie, Cathy C CC; Nickerson, Deborah A DA; McCarroll, Steven A SA; Correa, Adolfo A; Wilson, James G JG; , ; Lettre, Guillaume G; Sankaran, Vijay G VG; Reiner, Alex P AP
D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.
Arteriosclerosis, Thrombosis, And Vascular Biology
Raffield, Laura M LM; Zakai, Neil A NA; Duan, Qing Q; Laurie, Cecelia C; Smith, Joshua D JD; Irvin, Marguerite R MR; Doyle, Margaret F MF; Naik, Rakhi P RP; Song, Ci C; Manichaikul, Ani W AW; Liu, Yongmei Y; Durda, Peter P; Rotter, Jerome I JI; Jenny, Nancy S NS; Rich, Stephen S SS; Wilson, James G JG; Johnson, Andrew D AD; Correa, Adolfo A; Li, Yun Y; Nickerson, Deborah A DA; Rice, Kenneth K; Lange, Ethan M EM; Cushman, Mary M; Lange, Leslie A LA; Reiner, Alex P AP; ,
Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
Plos Genetics
Hodonsky, Chani J CJ; Jain, Deepti D; Schick, Ursula M UM; Morrison, Jean V JV; Brown, Lisa L; McHugh, Caitlin P CP; Schurmann, Claudia C; Chen, Diane D DD; Liu, Yong Mei YM; Auer, Paul L PL; Laurie, Cecilia A CA; Taylor, Kent D KD; Browning, Brian L BL; Li, Yun Y; Papanicolaou, George G; Rotter, Jerome I JI; Kurita, Ryo R; Nakamura, Yukio Y; Browning, Sharon R SR; Loos, Ruth J F RJF; North, Kari E KE; Laurie, Cathy C CC; Thornton, Timothy A TA; Pankratz, Nathan N; Bauer, Daniel E DE; Sofer, Tamar T; Reiner, Alex P AP
Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.
Elife
Clarke, Geraldine M GM; Rockett, Kirk K; Kivinen, Katja K; Hubbart, Christina C; Jeffreys, Anna E AE; Rowlands, Kate K; Jallow, Muminatou M; Conway, David J DJ; Bojang, Kalifa A KA; Pinder, Margaret M; Usen, Stanley S; Sisay-Joof, Fatoumatta F; Sirugo, Giorgio G; Toure, Ousmane O; Thera, Mahamadou A MA; Konate, Salimata S; Sissoko, Sibiry S; Niangaly, Amadou A; Poudiougou, Belco B; Mangano, Valentina D VD; Bougouma, Edith C EC; Sirima, Sodiomon B SB; Modiano, David D; Amenga-Etego, Lucas N LN; Ghansah, Anita A; Koram, Kwadwo A KA; Wilson, Michael D MD; Enimil, Anthony A; Evans, Jennifer J; Amodu, Olukemi K OK; Olaniyan, Subulade S; Apinjoh, Tobias T; Mugri, Regina R; Ndi, Andre A; Ndila, Carolyne M CM; Uyoga, Sophie S; Macharia, Alexander A; Peshu, Norbert N; Williams, Thomas N TN; Manjurano, Alphaxard A; Sepúlveda, Nuno N; Clark, Taane G TG; Riley, Eleanor E; Drakeley, Chris C; Reyburn, Hugh H; Nyirongo, Vysaul V; Kachala, David D; Molyneux, Malcolm M; Dunstan, Sarah J SJ; Phu, Nguyen Hoan NH; Quyen, Nguyen Ngoc NN; Thai, Cao Quang CQ; Hien, Tran Tinh TT; Manning, Laurens L; Laman, Moses M; Siba, Peter P; Karunajeewa, Harin H; Allen, Steve S; Allen, Angela A; Davis, Timothy Me TM; Michon, Pascal P; Mueller, Ivo I; Molloy, Síle F SF; Campino, Susana S; Kerasidou, Angeliki A; Cornelius, Victoria J VJ; Hart, Lee L; Shah, Shivang S SS; Band, Gavin G; Spencer, Chris Ca CC; Agbenyega, Tsiri T; Achidi, Eric E; Doumbo, Ogobara K OK; Farrar, Jeremy J; Marsh, Kevin K; Taylor, Terrie T; Kwiatkowski, Dominic P DP; ,
Prospective study of sickle cell trait and venous thromboembolism incidence.
Journal Of Thrombosis And Haemostasis : Jth
Folsom, A R AR; Tang, W W; Roetker, N S NS; Kshirsagar, A V AV; Derebail, V K VK; Lutsey, P L PL; Naik, R R; Pankow, J S JS; Grove, M L ML; Basu, S S; Key, N S NS; Cushman, M M
Sickle cell trait and incident ischemic stroke in the Atherosclerosis Risk in Communities study.
Stroke
Caughey, Melissa C MC; Loehr, Laura R LR; Key, Nigel S NS; Derebail, Vimal K VK; Gottesman, Rebecca F RF; Kshirsagar, Abhijit V AV; Grove, Megan L ML; Heiss, Gerardo G
Detection of sickle cell hemoglobin in Haiti by genotyping and hemoglobin solubility tests.
The American Journal Of Tropical Medicine And Hygiene
Carter, Tamar E TE; von Fricken, Michael M; Romain, Jean R JR; Memnon, Gladys G; St Victor, Yves Y; Schick, Laura L; Okech, Bernard A BA; Mulligan, Connie J CJ
Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.
Malaria Journal
Apinjoh, Tobias O TO; Anchang-Kimbi, Judith K JK; Njua-Yafi, Clarisse C; Ngwai, André N AN; Mugri, Regina N RN; Clark, Taane G TG; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Achidi, Eric A EA; ,
Haplotype analyses of haemoglobin C and haemoglobin S and the dynamics of the evolutionary response to malaria in Kassena-Nankana District of Ghana.
Plos One
Ghansah, Anita A; Rockett, Kirk A KA; Clark, Taane G TG; Wilson, Michael D MD; Koram, Kwadwo A KA; Oduro, Abraham R AR; Amenga-Etego, Lucas L; Anyorigiya, Thomas T; Hodgson, Abraham A; Milligan, Paul P; Rogers, William O WO; Kwiatkowski, Dominic P DP