The Dantu blood group prevents parasite growth in vivo: Evidence from a controlled human malaria infection study.
Elife
Kariuki, Silvia N SN; Macharia, Alexander W AW; Makale, Johnstone J; Nyamu, Wilfred W; Hoffman, Stephen L SL; Kapulu, Melissa C MC; Bejon, Philip P; Rayner, Julian C JC; Williams, Thomas N TN; ,
Plasmodium falciparum gametocyte carriage in longitudinally monitored incident infections is associated with duration of infection and human host factors.
Scientific Reports
Andolina, Chiara C; Ramjith, Jordache J; Rek, John J; Lanke, Kjerstin K; Okoth, Joseph J; Grignard, Lynn L; Arinaitwe, Emmanuel E; Briggs, Jessica J; Bailey, Jeffrey J; Aydemir, Ozkan O; Kamya, Moses R MR; Greenhouse, Bryan B; Dorsey, Grant G; Staedke, Sarah G SG; Drakeley, Chris C; Jonker, Marianne M; Bousema, Teun T
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Plos One
Tesorero, Rafael R; Janda, Joachim J; Hörster, Friederike F; Feyh, Patrik P; Mütze, Ulrike U; Hauke, Jana J; Schwarz, Kathrin K; Kunz, Joachim B JB; Hoffmann, Georg F GF; Okun, Jürgen G JG
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
Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon.
Human Molecular Genetics
Esoh, Kevin K KK; Apinjoh, Tobias O TO; Amambua-Ngwa, Alfred A; Nyanjom, Steven G SG; Chimusa, Emile R ER; Amenga-Etego, Lucas L; Wonkam, Ambroise A; Achidi, Eric A EA
The Optimized γ-Globin Lentiviral Vector GGHI-mB-3D Leads to Nearly Therapeutic HbF Levels In Vitro in CD34+ Cells from Sickle Cell Disease Patients.
Viruses
Drakopoulou, Ekati E; Georgomanoli, Maria M; Lederer, Carsten W CW; Panetsos, Fottes F; Kleanthous, Marina M; Voskaridou, Ersi E; Valakos, Dimitrios D; Papanikolaou, Eleni E; Anagnou, Nicholas P NP
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
Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects.
Prenatal Diagnosis
van Dijk, Marie M; Boussata, Souad S; Janssen, Dianta D; Afink, Gijs G; Jebbink, Jiska J; van Maarle, Merel M; Wortelboer, Esther E; Kooper, Angelique A; Pajkrt, Eva E
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
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
Sickle cell anaemia and severe Plasmodium falciparum malaria: a secondary analysis of the Transfusion and Treatment of African Children Trial (TRACT).
The Lancet. Child & Adolescent Health
Uyoga, Sophie S; Olupot-Olupot, Peter P; Connon, Roisin R; Kiguli, Sarah S; Opoka, Robert O RO; Alaroker, Florence F; Muhindo, Rita R; Macharia, Alexander W AW; Dondorp, Arjen M AM; Gibb, Diana M DM; Walker, A Sarah AS; George, Elizabeth C EC; Maitland, Kathryn K; Williams, Thomas N TN
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; ,
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2022-01-21
Variant appearance in text: beta-globin: 20A>T; rs334
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2022-01-21
Variant appearance in text: beta-globin: 20A>T; rs334
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.
Hgg Advances
Gold, Nina B NB; Harrison, Steven M SM; Rowe, Jared H JH; Gold, Jessica J; Furutani, Elissa E; Biffi, Alessandra A; Duncan, Christine N CN; Shimamura, Akiko A; Lehmann, Leslie E LE; Green, Robert C RC
Liggett, L Alexander LA; Cato, Liam D LD; Weinstock, Joshua S JS; Zhang, Yingze Y; Nouraie, S Mehdi SM; Gladwin, Mark T MT; Garrett, Melanie E ME; Ashley-Koch, Allison A; Telen, Marilyn M; Custer, Brian B; Kelly, Shannon S; Dinardo, Carla C; Sabino, Ester C EC; Loureiro, Paula P; Carneiro-Proietti, Anna A; Maximo, Cláudia C; Reiner, Alexander P AP; Abecasis, Gonçalo R GR; Williams, David A DA; Natarajan, Pradeep P; Bick, Alexander G AG; Sankaran, Vijay G VG
APOL1, Sickle Cell Trait, and CKD in the Jackson Heart Study.
Kidney Medicine
Young, Bessie A BA; Wilson, James G JG; Reiner, Alex A; Kestenbaum, Bryan B; Franceschini, Nora N; Bansal, Nisha N; Correa, Adolfo A; Himmelfarb, Jonathan J; Katz, Ronit R
Malaria protection due to sickle haemoglobin depends on parasite genotype.
Nature
Band, Gavin G; Leffler, Ellen M EM; Jallow, Muminatou M; Sisay-Joof, Fatoumatta F; Ndila, Carolyne M CM; Macharia, Alexander W AW; Hubbart, Christina C; Jeffreys, Anna E AE; Rowlands, Kate K; Nguyen, Thuy T; Gonçalves, Sónia S; Ariani, Cristina V CV; Stalker, Jim J; Pearson, Richard D RD; Amato, Roberto R; Drury, Eleanor E; Sirugo, Giorgio G; d'Alessandro, Umberto U; Bojang, Kalifa A KA; Marsh, Kevin K; Peshu, Norbert N; Saelens, Joseph W JW; Diakité, Mahamadou M; Taylor, Steve M SM; Conway, David J DJ; Williams, Thomas N TN; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP
Malaria protection due to sickle haemoglobin depends on parasite genotype.
Nature
Band, Gavin G; Leffler, Ellen M EM; Jallow, Muminatou M; Sisay-Joof, Fatoumatta F; Ndila, Carolyne M CM; Macharia, Alexander W AW; Hubbart, Christina C; Jeffreys, Anna E AE; Rowlands, Kate K; Nguyen, Thuy T; Gonçalves, Sónia S; Ariani, Cristina V CV; Stalker, Jim J; Pearson, Richard D RD; Amato, Roberto R; Drury, Eleanor E; Sirugo, Giorgio G; d'Alessandro, Umberto U; Bojang, Kalifa A KA; Marsh, Kevin K; Peshu, Norbert N; Saelens, Joseph W JW; Diakité, Mahamadou M; Taylor, Steve M SM; Conway, David J DJ; Williams, Thomas N TN; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP
Insilico Functional Analysis of Genome-Wide Dataset From 17,000 Individuals Identifies Candidate Malaria Resistance Genes Enriched in Malaria Pathogenic Pathways.
Frontiers In Genetics
Damena, Delesa D; Agamah, Francis E FE; Kimathi, Peter O PO; Kabongo, Ntumba E NE; Girma, Hundaol H; Choga, Wonderful T WT; Golassa, Lemu L; Chimusa, Emile R ER
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
International Journal Of Neonatal Screening
Zhou, Janet R JR; Ridsdale, Ross R; MacNeil, Lauren L; Lilley, Margaret M; Hoang, Stephanie S; Christian, Susan S; Blumenschein, Pamela P; Wolan, Vanessa V; Bruce, Aisha A; Singh, Gurpreet G; Wright, Nicola N; Parboosingh, Jillian S JS; Lamont, Ryan E RE; Sosova, Iveta I
Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α 3.7I form of α-thalassaemia using genome-wide microarray data.
Wellcome Open Research
Ndila, Carolyne M CM; Nyirongo, Vysaul V; Macharia, Alexander W AW; Jeffreys, Anna E AE; Rowlands, Kate K; Hubbart, Christina C; Busby, George B J GBJ; Band, Gavin G; Harding, Rosalind M RM; Rockett, Kirk A KA; Williams, Thomas N TN; ,
Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α 3.7I form of α-thalassaemia using genome-wide microarray data.
Wellcome Open Research
Ndila, Carolyne M CM; Nyirongo, Vysaul V; Macharia, Alexander W AW; Jeffreys, Anna E AE; Rowlands, Kate K; Hubbart, Christina C; Busby, George B J GBJ; Band, Gavin G; Harding, Rosalind M RM; Rockett, Kirk A KA; Williams, Thomas N TN; ,
Polygenic basis and biomedical consequences of telomere length variation.
Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Polygenic basis and biomedical consequences of telomere length variation.
Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.
Journal Of Human Genetics
Sun, Quan Q; Graff, Misa M; Rowland, Bryce B; Wen, Jia J; Huang, Le L; Miller-Fleming, Tyne W TW; Haessler, Jeffrey J; Preuss, Michael H MH; Chai, Jin-Fang JF; Lee, Moa P MP; Avery, Christy L CL; Cheng, Ching-Yu CY; Franceschini, Nora N; Sim, Xueling X; Cox, Nancy J NJ; Kooperberg, Charles C; North, Kari E KE; Li, Yun Y; Raffield, Laura M LM
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.
Journal Of Human Genetics
Sun, Quan Q; Graff, Misa M; Rowland, Bryce B; Wen, Jia J; Huang, Le L; Miller-Fleming, Tyne W TW; Haessler, Jeffrey J; Preuss, Michael H MH; Chai, Jin-Fang JF; Lee, Moa P MP; Avery, Christy L CL; Cheng, Ching-Yu CY; Franceschini, Nora N; Sim, Xueling X; Cox, Nancy J NJ; Kooperberg, Charles C; North, Kari E KE; Li, Yun Y; Raffield, Laura M LM