Publications:

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Deciphering the Genetic Code of Autoimmune Kidney Diseases.

Genes

Huang, Stephanie U-Shane SU; Kulatunge, Oneli O; O'Sullivan, Kim Maree KM

Publication Date: 2023-04-30

Variant appearance in text: rs28929474

PubMed Link: 37239388

Variant Present in the following documents:

• Main text
• genes-14-01028.pdf

View BVdb publication page

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Exploring the Therapeutic Potential of Elastase Inhibition in Age-Related Macular Degeneration in Mouse and Human.

Cells

Navneet, Soumya S; Brandon, Carlene C; Simpson, Kit K; Rohrer, Bärbel B

Publication Date: 2023-05-03

Variant appearance in text: rs28929474

PubMed Link: 37174708

Variant Present in the following documents:

• Main text
• cells-12-01308.pdf

View BVdb publication page

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Causal effects for genetic variants of osteoprotegerin on the risk of acute myocardial infarction and coronary heart disease: A two-sample Mendelian randomization study.

Frontiers In Cardiovascular Medicine

Chao, Peng P; Zhang, Xueqin X; Zhang, Lei L; Cui, Xinyue X; Wang, Shanshan S; Yang, Yining Y

Publication Date: 2023

Variant appearance in text: rs28929474

PubMed Link: 36960470

Variant Present in the following documents:

• Main text
• fcvm-10-1041231.pdf

View BVdb publication page

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Normal Alpha-1-Antitrypsin Variants Display in Serum Allele-Specific Protein Levels.

Journal Of Proteome Research

Jager, Shelley S; Cramer, Dario A T DAT; Heck, Albert J R AJR

Publication Date: 2023-03-22

Variant appearance in text: A1AT: Glu366Lys

PubMed Link: 36946534

Variant Present in the following documents:

• Main text
• pr2c00833.pdf

View BVdb publication page

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Dietary factors and risk for asthma: A Mendelian randomization analysis.

Frontiers In Immunology

Yang, Wenwen W; Yang, Yanjiang Y; He, Li L; Zhang, Min M; Sun, Shuo S; Wang, Feng F; Han, Biao B

Publication Date: 2023

Variant appearance in text: rs28929474

PubMed Link: 36911739

Variant Present in the following documents:

• Main text
• fimmu-14-1126457.pdf

View BVdb publication page

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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: SERPINA1: 1096G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.

Bioinformatics (Oxford, England)

Packer, Richard J RJ; Williams, Alex T AT; Hennah, William W; Eisenberg, Micaela T MT; Fawcett, Katherine A KA; Pearson, Willow W; Guyatt, Anna L AL; Edris, Ahmed A; Hollox, Edward J EJ; Marttila, Mikko M; Rao, Balasubramanya S BS; Bratty, John Raymond JR; Wain, Louise V LV; Dudbridge, Frank F; Tobin, Martin D MD

Publication Date: 2023-02-06

Variant appearance in text: rs28929474

PubMed Link: 36744935

Variant Present in the following documents:

• Main text
• btad073.pdf

View BVdb publication page

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Mono- and biallelic variant effects on disease at biobank scale.

Nature

Heyne, H O HO; Karjalainen, J J; Karczewski, K J KJ; Lemmelä, S M SM; Zhou, W W; , ; Havulinna, A S AS; Kurki, M M; Rehm, H L HL; Palotie, A A; Daly, M J MJ

Publication Date: 2023-01

Variant appearance in text: rs28929474

PubMed Link: 36653560

Variant Present in the following documents:

• 41586_2022_5420_MOESM1_ESM.pdf

View BVdb publication page

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Meta-analysis fine-mapping is often miscalibrated at single-variant resolution.

Cell Genomics

Kanai, Masahiro M; Elzur, Roy R; Zhou, Wei W; , ; Daly, Mark J MJ; Finucane, Hilary K HK

Publication Date: 2022-12-14

Variant appearance in text: SERPINA1: Glu366Lys; rs28929474

PubMed Link: 36643910

Variant Present in the following documents:

• Main text
• nihms-1858342.pdf

View BVdb publication page

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Association of Alpha-1 Antitrypsin Pi*Z Allele Frequency and Progressive Liver Fibrosis in Two Chronic Hepatitis C Cohorts.

Journal Of Clinical Medicine

Mücke, Victoria Therese VT; Fischer, Janett J; Mücke, Marcus Maximilian MM; Teumer, Alexander A; Koch, Alexander A; Vermehren, Johannes J; Fromme, Malin M; Zeuzem, Stefan S; Trautwein, Christian C; Sarrazin, Christoph C; Berg, Thomas T; Zhou, Biaohuan B; Hamesch, Karim K

Publication Date: 2022-12-29

Variant appearance in text: rs28929474

PubMed Link: 36615054

Variant Present in the following documents:

• Main text
• jcm-12-00253.pdf

View BVdb publication page

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Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open

Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ

Publication Date: 2022-12-01

Variant appearance in text: rs28929474

PubMed Link: 36580335

Variant Present in the following documents:

• jamanetwopen-e2248803-s001.pdf

View BVdb publication page

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Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Journal Of Personalized Medicine

Wildin, Robert S RS; Gerrard, Diana L DL; Leonard, Debra G B DGB

Publication Date: 2022-11-28

Variant appearance in text: SERPINA1: Glu366Lys

PubMed Link: 36556183

Variant Present in the following documents:

• jpm-12-01962.pdf

View BVdb publication page

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Genetically predicted testosterone and cancers risk in men: a two-sample Mendelian randomization study.

Journal Of Translational Medicine

Chang, Junke J; Wu, Yongming Y; Zhou, Sicheng S; Tian, Ye Y; Wang, Yan Y; Tian, Jie J; Song, Wenpeng W; Dong, Yinxian Y; Li, Jue J; Zhao, Ziyi Z; Che, Guowei G

Publication Date: 2022-12-08

Variant appearance in text: rs28929474

PubMed Link: 36482455

Variant Present in the following documents:

• Main text
• 12967_2022_Article_3783.pdf

View BVdb publication page

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Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas

Sangeetha, Thangavelu T; Nargis Begum, Tajuddin T; Balamuralikrishnan, Balasubramanian B; Arun, Meyyazhagan M; Rengasamy, Kannan R R KRR; Senthilkumar, Natchiappan N; Velayuthaprabhu, Shanmugam S; Saradhadevi, Muthukrishnan M; Sampathkumar, Palanisamy P; Vijaya Anand, Arumugam A

Publication Date: 2022

Variant appearance in text: rs28929474

PubMed Link: 36320441

Variant Present in the following documents:

• JRAAS2022-2238320.pdf

View BVdb publication page

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Multiomics study of nonalcoholic fatty liver disease.

Nature Genetics

Sveinbjornsson, Gardar G; Ulfarsson, Magnus O MO; Thorolfsdottir, Rosa B RB; Jonsson, Benedikt A BA; Einarsson, Eythor E; Gunnlaugsson, Gylfi G; Rognvaldsson, Solvi S; Arnar, David O DO; Baldvinsson, Magnus M; Bjarnason, Ragnar G RG; , ; Eiriksdottir, Thjodbjorg T; Erikstrup, Christian C; Ferkingstad, Egil E; Halldorsson, Gisli H GH; Helgason, Hannes H; Helgadottir, Anna A; Hindhede, Lotte L; Hjorleifsson, Grimur G; Jones, David D; Knowlton, Kirk U KU; Lund, Sigrun H SH; Melsted, Pall P; Norland, Kristjan K; Olafsson, Isleifur I; Olafsson, Sigurdur S; Oskarsson, Gudjon R GR; Ostrowski, Sisse Rye SR; Pedersen, Ole Birger OB; Snaebjarnarson, Auðunn S AS; Sigurdsson, Emil E; Steinthorsdottir, Valgerdur V; Schwinn, Michael M; Thorgeirsson, Gudmundur G; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Bundgaard, Henning H; Nadauld, Lincoln L; Bjornsson, Einar S ES; Rulifson, Ingrid C IC; Rafnar, Thorunn T; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K

Publication Date: 2022-11

Variant appearance in text: SERPINA1: Glu366Lys; rs28929474

PubMed Link: 36280732

Variant Present in the following documents:

• Main text
• 41588_2022_Article_1199.pdf
• 41588_2022_1199_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease.

Ebiomedicine

Serban, K A KA; Pratte, K A KA; Strange, C C; Sandhaus, R A RA; Turner, A M AM; Beiko, T T; Spittle, D A DA; Maier, L L; Hamzeh, N N; Silverman, E K EK; Hobbs, B D BD; Hersh, C P CP; DeMeo, D L DL; Cho, M H MH; Bowler, R P RP

Publication Date: 2022-10

Variant appearance in text: rs28929474

PubMed Link: 36155958

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Rolling stones: an instructive case of neonatal cholestasis.

Bmc Pediatrics

Killelea, Paige P; Sakhuja, Shruti S; Hernandez, Jose J; Hicks, M John MJ; Harpavat, Sanjiv S

Publication Date: 2022-09-04

Variant appearance in text: SERPINA1: E366K

PubMed Link: 36058901

Variant Present in the following documents:

• Main text
• 12887_2022_Article_3560.pdf

View BVdb publication page

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Npj Genomic Medicine

Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A

Publication Date: 2022-07-29

Variant appearance in text: SERPINA1: 1096G>A; Glu366Lys

PubMed Link: 35906228

Variant Present in the following documents:

• 41525_2022_316_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Low Prevalence of Mild Alpha-1-Antitrypsin Deficiency in Hospitalized COVID-19-Patients.

International Journal Of General Medicine

Nygren, David D; Mölstad, Ulrica U; Thulesius, Hans H; Hillman, Magnus M; Broman, Lars Mikael LM; Tanash, Hanan H; Landin-Olsson, Mona M; Rasmussen, Magnus M; Thunander, Maria M

Publication Date: 2022

Variant appearance in text: SERPINA1: Glu366Lys; rs28929474

PubMed Link: 35789772

Variant Present in the following documents:

• Main text
• ijgm-15-5843.pdf

View BVdb publication page

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Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.

Communications Biology

Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM

Publication Date: 2022-06-16

Variant appearance in text: rs28929474

PubMed Link: 35710628

Variant Present in the following documents:

• 42003_2022_3529_MOESM3_ESM.xlsx, sheet 2
• 42003_2022_3529_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature.

Bmc Pediatrics

Jaspers, Evi E; Van Dijck, Ine I; Hoffman, Ilse I; Knops, Noël N; Stéphenne, Xavier X; Witters, Peter P; Proesmans, Marijke M

Publication Date: 2022-05-03

Variant appearance in text: A1AT: Glu366Lys

PubMed Link: 35505316

Variant Present in the following documents:

• Main text
• 12887_2022_Article_3290.pdf

View BVdb publication page

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Relationship between NAFLD and coronary artery disease: A Mendelian randomization study.

Hepatology (Baltimore, Md.)

Ren, Zhewen Z; Simons, Pomme I H G PIHG; Wesselius, Anke A; Stehouwer, Coen D A CDA; Brouwers, Martijn C G J MCGJ

Publication Date: 2022-04-20

Variant appearance in text: rs28929474

PubMed Link: 35441719

Variant Present in the following documents:

• Main text
• hep-77-230.pdf

View BVdb publication page

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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: SERPINA1: 1096G>A; Glu366Lys

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Landscape of the ACE2 Coronavirus Receptor.

Circulation

Yang, Zhijian Z; Macdonald-Dunlop, Erin E; Chen, Jiantao J; Zhai, Ranran R; Li, Ting T; Richmond, Anne A; Klarić, Lucija L; Pirastu, Nicola N; Ning, Zheng Z; Zheng, Chenqing C; Wang, Yipeng Y; Huang, Tingting T; He, Yazhou Y; Guo, Huiming H; Ying, Kejun K; Gustafsson, Stefan S; Prins, Bram B; Ramisch, Anna A; Dermitzakis, Emmanouil T ET; Png, Grace G; Eriksson, Niclas N; Haessler, Jeffrey J; Hu, Xiaowei X; Zanetti, Daniela D; Boutin, Thibaud T; Hwang, Shih-Jen SJ; Wheeler, Eleanor E; Pietzner, Maik M; Raffield, Laura M LM; Kalnapenkis, Anette A; Peters, James E JE; Viñuela, Ana A; Gilly, Arthur A; Elmståhl, Sölve S; Dedoussis, George G; Petrie, John R JR; Polašek, Ozren O; Folkersen, Lasse L; Chen, Yan Y; Yao, Chen C; Võsa, Urmo U; Pairo-Castineira, Erola E; Clohisey, Sara S; Bretherick, Andrew D AD; Rawlik, Konrad K; , ; , ; Esko, Tõnu T; Enroth, Stefan S; Johansson, Åsa Å; Gyllensten, Ulf U; Langenberg, Claudia C; Levy, Daniel D; Hayward, Caroline C; Assimes, Themistocles L TL; Kooperberg, Charles C; Manichaikul, Ani W AW; Siegbahn, Agneta A; Wallentin, Lars L; Lind, Lars L; Zeggini, Eleftheria E; Schwenk, Jochen M JM; Butterworth, Adam S AS; Michaëlsson, Karl K; Pawitan, Yudi Y; Joshi, Peter K PK; Baillie, J Kenneth JK; Mälarstig, Anders A; Reiner, Alexander P AP; Wilson, James F JF; Shen, Xia X

Publication Date: 2022-05-03

Variant appearance in text: rs28929474

PubMed Link: 35387486

Variant Present in the following documents:

• Main text
• cir-145-1398.pdf

View BVdb publication page

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Understanding the complex genetic architecture connecting rheumatoid arthritis, osteoporosis and inflammation: discovering causal pathways.

Human Molecular Genetics

Kasher, Melody M; Williams, Frances M K FMK; Freidin, Maxim B MB; Malkin, Ida I; Cherny, Stacey S SS; , ; Livshits, Gregory G

Publication Date: 2022-08-23

Variant appearance in text: rs28929474

PubMed Link: 35349660

Variant Present in the following documents:

• Main text
• ddac061.pdf

View BVdb publication page

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A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Nature Communications

Skuladottir, Astros Th AT; Bjornsdottir, Gyda G; Ferkingstad, Egil E; Einarsson, Gudmundur G; Stefansdottir, Lilja L; Nawaz, Muhammad Sulaman MS; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Saevarsdottir, Saedis S; Walters, G Bragi GB; Magnusson, Sigurdur H SH; Bjornsdottir, Anna A; Sveinsson, Olafur A OA; Vikingsson, Arnor A; Hansen, Thomas Folkmann TF; Jacobsen, Rikke Louise RL; Erikstrup, Christian C; Schwinn, Michael M; Brunak, Søren S; Banasik, Karina K; Ostrowski, Sisse Rye SR; Troelsen, Anders A; Henkel, Cecilie C; Pedersen, Ole Birger OB; , ; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Thorgeirsson, Thorgeir E TE; Stefansson, Hreinn H; Stefansson, Kari K

Publication Date: 2022-03-24

Variant appearance in text: SERPINA1: Glu366Lys; rs28929474

PubMed Link: 35332129

Variant Present in the following documents:

• Main text
• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 4
• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 10
• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 9
• 41467_2022_Article_29133.pdf
• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 3
• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 11
• 41467_2022_29133_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Proteoform Profiles Reveal That Alpha-1-Antitrypsin in Human Serum and Milk Is Derived From a Common Source.

Frontiers In Molecular Biosciences

Jager, Shelley S; Cramer, Dario A T DAT; Hoek, Max M; Mokiem, Nadia J NJ; van Keulen, Britt J BJ; van Goudoever, Johannes B JB; Dingess, Kelly A KA; Heck, Albert J R AJR

Publication Date: 2022

Variant appearance in text: A1AT: Glu366Lys

PubMed Link: 35274008

Variant Present in the following documents:

• Main text
• fmolb-09-858856.pdf

View BVdb publication page

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Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches.

Diagnostics (Basel, Switzerland)

Martinou, Eirini E; Pericleous, Marinos M; Stefanova, Irena I; Kaur, Vasha V; Angelidi, Angeliki M AM

Publication Date: 2022-02-04

Variant appearance in text: rs28929474

PubMed Link: 35204498

Variant Present in the following documents:

• Main text
• diagnostics-12-00407.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SERPINA1: E366K

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SERPINA1: E366K; rs28929474

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications

Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K

Publication Date: 2022-02-02

Variant appearance in text: SERPINA1: Glu366Lys; rs28929474

PubMed Link: 35110524

Variant Present in the following documents:

• Main text
• 41467_2022_28167_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications

Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K

Publication Date: 2022-02-02

Variant appearance in text: SERPINA1: Glu366Lys; rs28929474

PubMed Link: 35110524

Variant Present in the following documents:

• Main text
• 41467_2022_28167_MOESM3_ESM.xlsx, sheet 5

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Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia.

Erj Open Research

Stark, Christoffer C; Koskenvuo, Juha W JW; Nykänen, Antti A; Seppälä, Eija H EH; Myllykangas, Samuel S; Lemström, Karl K; Raivio, Peter P

Publication Date: 2022-01

Variant appearance in text: SERPINA1: 1096G>A; Glu366Lys

PubMed Link: 35083318

Variant Present in the following documents:

• Main text
• 00583-2021.pdf

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Proteoforms and their expanding role in laboratory medicine.

Practical Laboratory Medicine

Forgrave, Lauren M LM; Wang, Meng M; Yang, David D; DeMarco, Mari L ML

Publication Date: 2022-01

Variant appearance in text: A1AT: E366K

PubMed Link: 34950758

Variant Present in the following documents:

• Main text

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Interaction of Cigarette Smoking and Polygenic Risk Score on Reduced Lung Function.

Jama Network Open

Kim, Woori W; Moll, Matthew M; Qiao, Dandi D; Hobbs, Brian D BD; Shrine, Nick N; Sakornsakolpat, Phuwanat P; Tobin, Martin D MD; Dudbridge, Frank F; Wain, Louise V LV; Ladd-Acosta, Christine C; Chatterjee, Nilanjan N; Silverman, Edwin K EK; Cho, Michael H MH; Beaty, Terri H TH

Publication Date: 2021-12-01

Variant appearance in text: rs28929474

PubMed Link: 34913977

Variant Present in the following documents:

• Main text

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Interaction of Cigarette Smoking and Polygenic Risk Score on Reduced Lung Function.

Jama Network Open

Kim, Woori W; Moll, Matthew M; Qiao, Dandi D; Hobbs, Brian D BD; Shrine, Nick N; Sakornsakolpat, Phuwanat P; Tobin, Martin D MD; Dudbridge, Frank F; Wain, Louise V LV; Ladd-Acosta, Christine C; Chatterjee, Nilanjan N; Silverman, Edwin K EK; Cho, Michael H MH; Beaty, Terri H TH

Publication Date: 2021-12-01

Variant appearance in text: rs28929474

PubMed Link: 34913977

Variant Present in the following documents:

• Main text

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Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes

Ravasi, Giulia G; Pelucchi, Sara S; Bertola, Francesca F; Capelletti, Martina Maria MM; Mariani, Raffaella R; Piperno, Alberto A

Publication Date: 2021-11-09

Variant appearance in text: SERPINA1: E366K; rs28929474

PubMed Link: 34828384

Variant Present in the following documents:

• Main text

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Instrumental variable estimation for a time-varying treatment and a time-to-event outcome via structural nested cumulative failure time models.

Bmc Medical Research Methodology

Shi, Joy J; Swanson, Sonja A SA; Kraft, Peter P; Rosner, Bernard B; De Vivo, Immaculata I; Hernán, Miguel A MA

Publication Date: 2021-11-25

Variant appearance in text: rs28929474

PubMed Link: 34823502

Variant Present in the following documents:

• 12874_2021_1449_MOESM1_ESM.pdf

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Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage

Young, D A DA; Barter, M J MJ; Soul, J J

Publication Date: 2021-11-11

Variant appearance in text: rs28929474

PubMed Link: 34774787

Variant Present in the following documents:

• Main text
• main.pdf

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Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage

Young, D A DA; Barter, M J MJ; Soul, J J

Publication Date: 2022-02

Variant appearance in text: rs28929474

PubMed Link: 34774787

Variant Present in the following documents:

• Main text
• main.pdf

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Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk.

International Journal Of Molecular Sciences

Rabekova, Zuzana Z; Frankova, Sona S; Jirsa, Milan M; Neroldova, Magdalena M; Lunova, Mariia M; Fabian, Ondrej O; Kveton, Martin M; Varys, David D; Chmelova, Klara K; Adamkova, Vera V; Hubacek, Jaroslav A JA; Spicak, Julius J; Merta, Dusan D; Sperl, Jan J

Publication Date: 2021-09-29

Variant appearance in text: SERPINA1: 1096G>A; Glu366Lys; rs28929474

PubMed Link: 34638908

Variant Present in the following documents:

• Main text

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Unraveling the Immunopathogenesis and Genetic Variants in Vasculitis Toward Development of Personalized Medicine.

Frontiers In Cardiovascular Medicine

Yap, Bryan Ju Min BJM; Lai-Foenander, Ashley Sean AS; Goh, Bey Hing BH; Ong, Yong Sze YS; Duangjai, Acharaporn A; Saokaew, Surasak S; Chua, Caroline Lin Lin CLL; Phisalprapa, Pochamana P; Yap, Wei Hsum WH

Publication Date: 2021

Variant appearance in text: rs28929474

PubMed Link: 34621800

Variant Present in the following documents:

• Main text

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics

, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ

Publication Date: 2021-12-01

Variant appearance in text: SERPINA1: 1096G>A; Glu366Lys

PubMed Link: 34570182

Variant Present in the following documents:

• jamapediatr-e213496-s003.xlsx, sheet 1

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