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
The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location.
Nature Genetics
Liu, Ilon I; Jiang, Li L; Samuelsson, Erik R ER; Marco Salas, Sergio S; Beck, Alexander A; Hack, Olivia A OA; Jeong, Daeun D; Shaw, McKenzie L ML; Englinger, Bernhard B; LaBelle, Jenna J; Mire, Hafsa M HM; Madlener, Sibylle S; Mayr, Lisa L; Quezada, Michael A MA; Trissal, Maria M; Panditharatna, Eshini E; Ernst, Kati J KJ; Vogelzang, Jayne J; Gatesman, Taylor A TA; Halbert, Matthew E ME; Palova, Hana H; Pokorna, Petra P; Sterba, Jaroslav J; Slaby, Ondrej O; Geyeregger, Rene R; Diaz, Aaron A; Findlay, Izac J IJ; Dun, Matthew D MD; Resnick, Adam A; Suvà, Mario L ML; Jones, David T W DTW; Agnihotri, Sameer S; Svedlund, Jessica J; Koschmann, Carl C; Haberler, Christine C; Czech, Thomas T; Slavc, Irene I; Cotter, Jennifer A JA; Ligon, Keith L KL; Alexandrescu, Sanda S; Yung, W K Alfred WKA; Arrillaga-Romany, Isabel I; Gojo, Johannes J; Monje, Michelle M; Nilsson, Mats M; Filbin, Mariella G MG
Publication Date: 2022-12
Variant appearance in text: SERPINA1: 187C>T; R63C
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Frontiers In Oncology
Schwartz, Alison A; Manning, Danielle K DK; Koeller, Diane R DR; Chittenden, Anu A; Isidro, Raymond A RA; Hayes, Connor P CP; Abraamyan, Feruza F; Manam, Monica Devi MD; Dwan, Meaghan M; Barletta, Justine A JA; Sholl, Lynette M LM; Yurgelun, Matthew B MB; Rana, Huma Q HQ; Garber, Judy E JE; Ghazani, Arezou A AA
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Journal Of Personalized Medicine
Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
Jco Precision Oncology
Schienda, Jaclyn J; Church, Alanna J AJ; Corson, Laura B LB; Decker, Brennan B; Clinton, Catherine M CM; Manning, Danielle K DK; Imamovic-Tuco, Alma A; Reidy, Deirdre D; Strand, Gianna R GR; Applebaum, Mark A MA; Bagatell, Rochelle R; DuBois, Steven G SG; Glade-Bender, Julia L JL; Kang, Wenjun W; Kim, AeRang A; Laetsch, Theodore W TW; Macy, Margaret E ME; Maese, Luke L; Pinto, Navin N; Sabnis, Amit J AJ; Schiffman, Joshua D JD; Colace, Susan I SI; Volchenboum, Samuel L SL; Weiser, Daniel A DA; Nowak, Jonathan A JA; Lindeman, Neal I NI; Janeway, Katherine A KA; Crompton, Brian D BD; Kamihara, Junne J
Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
Jardim, José R JR; Casas-Maldonado, Francisco F; Fernandes, Frederico Leon Arrabal FLA; Castellano, Maria Vera Cruz de O MVCO; Torres-Durán, María M; Miravitlles, Marc M
Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms.
Cancers
Mosquera Orgueira, Adrián A; Cid López, Miguel M; Peleteiro Raíndo, Andrés A; Díaz Arias, José Ángel JÁ; Antelo Rodríguez, Beatriz B; Bao Pérez, Laura L; Alonso Vence, Natalia N; Bendaña López, Ángeles Á; Abuin Blanco, Aitor A; Melero Valentín, Paula P; Ferreiro Ferro, Roi R; Aliste Santos, Carlos C; Fraga Rodríguez, Máximo Francisco MF; González Pérez, Marta Sonia MS; Pérez Encinas, Manuel Mateo MM; Bello López, José Luis JL
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22
Variant appearance in text: SERPINA1: 187C>T; R63C; rs28931570
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Journal Of Clinical Laboratory Analysis
Ottaviani, Stefania S; Barzon, Valentina V; Buxens, Amaya A; Gorrini, Marina M; Larruskain, Amaia A; El Hamss, Rachid R; Balderacchi, Alice M AM; Corsico, Angelo G AG; Ferrarotti, Ilaria I
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: SERPINA1: 187C>T; Arg63Cys
Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.
International Journal Of Chronic Obstructive Pulmonary Disease
Veith, Martina M; Klemmer, Andreas A; Anton, Iker I; El Hamss, Rachid R; Rapun, Noelia N; Janciauskiene, Sabina S; Kotke, Viktor V; Herr, Christian C; Bals, Robert R; Vogelmeier, Claus Franz CF; Greulich, Timm T
The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.
American Journal Of Respiratory And Critical Care Medicine
Ortega, Victor E VE; Li, Xingnan X; O'Neal, Wanda K WK; Lackey, Lela L; Ampleford, Elizabeth E; Hawkins, Gregory A GA; Grayeski, Philip J PJ; Laederach, Alain A; Barjaktarevic, Igor I; Barr, R Graham RG; Cooper, Christopher C; Couper, David D; Han, MeiLan K MK; Kanner, Richard E RE; Kleerup, Eric C EC; Martinez, Fernando J FJ; Paine, Robert R; Peters, Stephen P SP; Pirozzi, Cheryl C; Rennard, Stephen I SI; Woodruff, Prescott G PG; Hoffman, Eric A EA; Meyers, Deborah A DA; Bleecker, Eugene R ER; ,
Publication Date: 2020-03-01
Variant appearance in text: SERPINA1: 187C>T; rs28931570
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: SERPINA1: 187C>T; Arg63Cys; rs28931570
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Publication Date: 2018-12
Variant appearance in text: SERPINA1: 187C>T; R63C
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: SERPINA1: R63C; rs28931570
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Human Molecular Genetics
Qiao, Dandi D; Ameli, Asher A; Prokopenko, Dmitry D; Chen, Han H; Kho, Alvin T AT; Parker, Margaret M MM; Morrow, Jarrett J; Hobbs, Brian D BD; Liu, Yanhong Y; Beaty, Terri H TH; Crapo, James D JD; Barnes, Kathleen C KC; Nickerson, Deborah A DA; Bamshad, Michael M; Hersh, Craig P CP; Lomas, David A DA; Agusti, Alvar A; Make, Barry J BJ; Calverley, Peter M A PMA; Donner, Claudio F CF; Wouters, Emiel F EF; Vestbo, Jørgen J; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Tal-Singer, Ruth R; Spitz, Margaret R MR; Sharma, Amitabh A; Ruczinski, Ingo I; Lange, Christoph C; Silverman, Edwin K EK; Cho, Michael H MH
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Nature Medicine
Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M
Publication Date: 2017-12
Variant appearance in text: SERPINA1: 187C>T; Arg63Cys
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: SERPINA1: 187C>T; R63C; rs28931570
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.
Plos Genetics
Bolton, Jennifer L JL; Hayward, Caroline C; Direk, Nese N; Lewis, John G JG; Hammond, Geoffrey L GL; Hill, Lesley A LA; Anderson, Anna A; Huffman, Jennifer J; Wilson, James F JF; Campbell, Harry H; Rudan, Igor I; Wright, Alan A; Hastie, Nicholas N; Wild, Sarah H SH; Velders, Fleur P FP; Hofman, Albert A; Uitterlinden, Andre G AG; Lahti, Jari J; Räikkönen, Katri K; Kajantie, Eero E; Widen, Elisabeth E; Palotie, Aarno A; Eriksson, Johan G JG; Kaakinen, Marika M; Järvelin, Marjo-Riitta MR; Timpson, Nicholas J NJ; Davey Smith, George G; Ring, Susan M SM; Evans, David M DM; St Pourcain, Beate B; Tanaka, Toshiko T; Milaneschi, Yuri Y; Bandinelli, Stefania S; Ferrucci, Luigi L; van der Harst, Pim P; Rosmalen, Judith G M JG; Bakker, Stephen J L SJ; Verweij, Niek N; Dullaart, Robin P F RP; Mahajan, Anubha A; Lindgren, Cecilia M CM; Morris, Andrew A; Lind, Lars L; Ingelsson, Erik E; Anderson, Laura N LN; Pennell, Craig E CE; Lye, Stephen J SJ; Matthews, Stephen G SG; Eriksson, Joel J; Mellstrom, Dan D; Ohlsson, Claes C; Price, Jackie F JF; Strachan, Mark W J MW; Reynolds, Rebecca M RM; Tiemeier, Henning H; Walker, Brian R BR; ,
Publication Date: 2014-07
Variant appearance in text: SERPINA1: Arg63Cys; rs28931570
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Bioinformatics And Biology Insights
Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE