Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: HBB: 118C>T; Gln40*; rs11549407
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
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
Co-Treatment of Erythroid Cells from β-Thalassemia Patients with CRISPR-Cas9-Based β<sup>0</sup>39-Globin Gene Editing and Induction of Fetal Hemoglobin.
Genes
Cosenza, Lucia Carmela LC; Zuccato, Cristina C; Zurlo, Matteo M; Gambari, Roberto R; Finotti, Alessia A
Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.
Leukemia
Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Bornhauser, Beat B; Frismantas, Viktoras V; Assenov, Yassen Y; Zimmermann, Martin M; Happich, Margit M; von Knebel-Doeberitz, Caroline C; von Neuhoff, Nils N; Köhler, Rolf R; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Avigad, Smadar S; Pfister, Stefan M SM; Muckenthaler, Martina U MU; Bourquin, Jean-Pierre JP; Korbel, Jan O JO; Kulozik, Andreas E AE
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: HBB: 118C>T; Gln40Ter; rs11549407
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: HBB: 118C>T; Gln40Ter; rs11549407
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
American Journal Of Human Genetics
Hu, Yao Y; Stilp, Adrienne M AM; McHugh, Caitlin P CP; Rao, Shuquan S; Jain, Deepti D; Zheng, Xiuwen X; Lane, John J; Méric de Bellefon, Sébastian S; Raffield, Laura M LM; Chen, Ming-Huei MH; Yanek, Lisa R LR; Wheeler, Marsha M; Yao, Yao Y; Ren, Chunyan C; Broome, Jai J; Moon, Jee-Young JY; de Vries, Paul S PS; Hobbs, Brian D BD; Sun, Quan Q; Surendran, Praveen P; Brody, Jennifer A JA; Blackwell, Thomas W TW; Choquet, Hélène H; Ryan, Kathleen K; Duggirala, Ravindranath R; Heard-Costa, Nancy N; Wang, Zhe Z; Chami, Nathalie N; Preuss, Michael H MH; Min, Nancy N; Ekunwe, Lynette L; Lange, Leslie A LA; Cushman, Mary M; Faraday, Nauder N; Curran, Joanne E JE; Almasy, Laura L; Kundu, Kousik K; Smith, Albert V AV; Gabriel, Stacey S; Rotter, Jerome I JI; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Vasan, Ramachandran S RS; Smith, Nicholas L NL; North, Kari E KE; Boerwinkle, Eric E; Becker, Lewis C LC; Lewis, Joshua P JP; Abecasis, Goncalo R GR; Hou, Lifang L; O'Connell, Jeffrey R JR; Morrison, Alanna C AC; Beaty, Terri H TH; Kaplan, Robert R; Correa, Adolfo A; Blangero, John J; Jorgenson, Eric E; Psaty, Bruce M BM; Kooperberg, Charles C; Walton, Russell T RT; Kleinstiver, Benjamin P BP; Tang, Hua H; Loos, Ruth J F RJF; Soranzo, Nicole N; Butterworth, Adam S AS; Nickerson, Debbie D; Rich, Stephen S SS; Mitchell, Braxton D BD; Johnson, Andrew D AD; Auer, Paul L PL; Li, Yun Y; Mathias, Rasika A RA; Lettre, Guillaume G; Pankratz, Nathan N; Laurie, Cathy C CC; Laurie, Cecelia A CA; Bauer, Daniel E DE; Conomos, Matthew P MP; Reiner, Alexander P AP; ,
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.
Archives Of Medical Science : Ams
Aldakeel, Sumayh A SA; Ghanem, Neda Z NZ; Al-Amodi, Amani M AM; Osman, Ahoud Khalid AK; Al Asoom, Lubna Ibrahim LI; Ahmed, Nazish Rafique NR; Almandil, Noor B NB; Akhtar, Mohammed Shakil MS; Azeez, Sayed Abdul SA; Borgio, J Francis JF
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Hemoglobin
Belisário, André R AR; Carneiro-Proietti, Anna B AB; Sabino, Ester Cerdeira EC; Araújo, Aderson A; Loureiro, Paula P; Máximo, Cláudia C; Flor-Park, Miriam V MV; Rodrigues, Daniela D O W DDOW; Ozahata, Mina Cintho MC; McClure, Christopher C; Mota, Rosimere Afonso RA; Gomes Moura, Isabel C IC; Custer, Brian B; Kelly, Shannon S; ,
Three Mexican Families with β thalassemia intermedia with different molecular basis.
Genetics And Molecular Biology
Torre, Lourdes Del Carmen Rizo de la LDCR; Díaz, Francisco Javier Perea FJP; Cortés, Bertha Ibarra BI; López, Víctor Manuel Rentería VMR; López, Josefina Yoaly Sánchez JYS; Anzaldo, Francisco Javier Sánchez FJS; Torres, María Teresa Magaña MTM; Gonnet, Katia K; Badens, Catherine C; Bonello-Palot, Nathalie N
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
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
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: HBB: 118C>T; Gln40*; rs11549407
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia.
Embo Molecular Medicine
Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Bornhauser, Beat B; von Knebel Doeberitz, Caroline C; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Assenov, Yassen Y; Frismantas, Viktoras V; Marovca, Blerim B; Waszak, Sebastian M SM; Zimmermann, Martin M; Seemann, Julia J; Happich, Margit M; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Bakharevich, Kseniya K; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Muckenthaler, Martina U MU; Korbel, Jan O JO; Bourquin, Jean-Pierre JP; Kulozik, Andreas E AE
Prevalence of β-Thalassemia Mutations among Northeastern Iranian Population and their Impacts on Hematological Indices and Application of Prenatal Diagnosis, a Seven-Years Study.
Mediterranean Journal Of Hematology And Infectious Diseases
Jaripour, Mohammad Ehsan ME; Hayatigolkhatmi, Kourosh K; Iranmanesh, Vahid V; Zand, Farhad Khadivi FK; Badiei, Zahra Z; Farhangi, Hamid H; Ghasemi, Ali A; Banihashem, Abdollah A; Esfehani, Reza Jafarzadeh RJ; Sadr-Nabavi, Ariane A
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.
Saudi Medical Journal
Alaithan, Mousa A MA; AbdulAzeez, Sayed S; Borgio, J Francis JF