Publications:

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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.

Nature Genetics

Shrine, Nick N; Izquierdo, Abril G AG; Chen, Jing J; Packer, Richard R; Hall, Robert J RJ; Guyatt, Anna L AL; Batini, Chiara C; Thompson, Rebecca J RJ; Pavuluri, Chandan C; Malik, Vidhi V; Hobbs, Brian D BD; Moll, Matthew M; Kim, Wonji W; Tal-Singer, Ruth R; Bakke, Per P; Fawcett, Katherine A KA; John, Catherine C; Coley, Kayesha K; Piga, Noemi Nicole NN; Pozarickij, Alfred A; Lin, Kuang K; Millwood, Iona Y IY; Chen, Zhengming Z; Li, Liming L; , ; Wijnant, Sara R A SRA; Lahousse, Lies L; Brusselle, Guy G; Uitterlinden, Andre G AG; Manichaikul, Ani A; Oelsner, Elizabeth C EC; Rich, Stephen S SS; Barr, R Graham RG; Kerr, Shona M SM; Vitart, Veronique V; Brown, Michael R MR; Wielscher, Matthias M; Imboden, Medea M; Jeong, Ayoung A; Bartz, Traci M TM; Gharib, Sina A SA; Flexeder, Claudia C; Karrasch, Stefan S; Gieger, Christian C; Peters, Annette A; Stubbe, Beate B; Hu, Xiaowei X; Ortega, Victor E VE; Meyers, Deborah A DA; Bleecker, Eugene R ER; Gabriel, Stacey B SB; Gupta, Namrata N; Smith, Albert Vernon AV; Luan, Jian'an J; Zhao, Jing-Hua JH; Hansen, Ailin F AF; Langhammer, Arnulf A; Willer, Cristen C; Bhatta, Laxmi L; Porteous, David D; Smith, Blair H BH; Campbell, Archie A; Sofer, Tamar T; Lee, Jiwon J; Daviglus, Martha L ML; Yu, Bing B; Lim, Elise E; Xu, Hanfei H; O'Connor, George T GT; Thareja, Gaurav G; Albagha, Omar M E OME; , ; Suhre, Karsten K; Granell, Raquel R; Faquih, Tariq O TO; Hiemstra, Pieter S PS; Slats, Annelies M AM; Mullin, Benjamin H BH; Hui, Jennie J; James, Alan A; Beilby, John J; Patasova, Karina K; Hysi, Pirro P; Koskela, Jukka T JT; Wyss, Annah B AB; Jin, Jianping J; Sikdar, Sinjini S; Lee, Mikyeong M; May-Wilson, Sebastian S; Pirastu, Nicola N; Kentistou, Katherine A KA; Joshi, Peter K PK; Timmers, Paul R H J PRHJ; Williams, Alexander T AT; Free, Robert C RC; Wang, Xueyang X; Morrison, John L JL; Gilliland, Frank D FD; Chen, Zhanghua Z; Wang, Carol A CA; Foong, Rachel E RE; Harris, Sarah E SE; Taylor, Adele A; Redmond, Paul P; Cook, James P JP; Mahajan, Anubha A; Lind, Lars L; Palviainen, Teemu T; Lehtimäki, Terho T; Raitakari, Olli T OT; Kaprio, Jaakko J; Rantanen, Taina T; Pietiläinen, Kirsi H KH; Cox, Simon R SR; Pennell, Craig E CE; Hall, Graham L GL; Gauderman, W James WJ; Brightling, Chris C; Wilson, James F JF; Vasankari, Tuula T; Laitinen, Tarja T; Salomaa, Veikko V; Mook-Kanamori, Dennis O DO; Timpson, Nicholas J NJ; Zeggini, Eleftheria E; Dupuis, Josée J; Hayward, Caroline C; Brumpton, Ben B; Langenberg, Claudia C; Weiss, Stefan S; Homuth, Georg G; Schmidt, Carsten Oliver CO; Probst-Hensch, Nicole N; Jarvelin, Marjo-Riitta MR; Morrison, Alanna C AC; Polasek, Ozren O; Rudan, Igor I; Lee, Joo-Hyeon JH; Sayers, Ian I; Rawlins, Emma L EL; Dudbridge, Frank F; Silverman, Edwin K EK; Strachan, David P DP; Walters, Robin G RG; Morris, Andrew P AP; London, Stephanie J SJ; Cho, Michael H MH; Wain, Louise V LV; Hall, Ian P IP; Tobin, Martin D MD

Publication Date: 2023-03

Variant appearance in text: rs10482810

PubMed Link: 36914875

Variant Present in the following documents:

• 41588_2023_1314_MOESM1_ESM.pdf

View BVdb publication page

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Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

Journal Of Clinical Medicine

Serio, Viola Bianca VB; Palmieri, Maria M; Loberti, Lorenzo L; Granata, Stefania S; Fallerini, Chiara C; Vaghi, Massimo M; Renieri, Alessandra A; Pinto, Anna Maria AM

Publication Date: 2022-06-28

Variant appearance in text: TGFB2: Val207Leu

PubMed Link: 35807022

Variant Present in the following documents:

• jcm-11-03740.pdf

View BVdb publication page

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Exome sequencing and analysis of 454,787 UK Biobank participants.

Nature

Backman, Joshua D JD; Li, Alexander H AH; Marcketta, Anthony A; Sun, Dylan D; Mbatchou, Joelle J; Kessler, Michael D MD; Benner, Christian C; Liu, Daren D; Locke, Adam E AE; Balasubramanian, Suganthi S; Yadav, Ashish A; Banerjee, Nilanjana N; Gillies, Christopher E CE; Damask, Amy A; Liu, Simon S; Bai, Xiaodong X; Hawes, Alicia A; Maxwell, Evan E; Gurski, Lauren L; Watanabe, Kyoko K; Kosmicki, Jack A JA; Rajagopal, Veera V; Mighty, Jason J; , ; , ; Jones, Marcus M; Mitnaul, Lyndon L; Stahl, Eli E; Coppola, Giovanni G; Jorgenson, Eric E; Habegger, Lukas L; Salerno, William J WJ; Shuldiner, Alan R AR; Lotta, Luca A LA; Overton, John D JD; Cantor, Michael N MN; Reid, Jeffrey G JG; Yancopoulos, George G; Kang, Hyun M HM; Marchini, Jonathan J; Baras, Aris A; Abecasis, Gonçalo R GR; Ferreira, Manuel A R MAR

Publication Date: 2021-11

Variant appearance in text: TGFB2: Val207Leu

PubMed Link: 34662886

Variant Present in the following documents:

• 41586_2021_4103_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: TGFB2: V207L; rs10482810

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TGFB2: V207L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs10482810

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: TGFB2: V207L; rs10482810

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

View BVdb publication page

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First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

Human Genetics

van de Luijtgaarden, Koen M KM; Heijsman, Daphne D; Maugeri, Alessandra A; Weiss, Marjan M MM; Verhagen, Hence J M HJ; IJpma, Arne A; Brüggenwirth, Hennie T HT; Majoor-Krakauer, Danielle D

Publication Date: 2015-08

Variant appearance in text: rs10482810

PubMed Link: 26017485

Variant Present in the following documents:

• Main text
• 439_2015_Article_1567.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TGFB2: V207L; rs10482810

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Biomarkers of TGF-β signaling pathway and prognosis of pancreatic cancer.

Plos One

Javle, Milind M; Li, Yanan Y; Tan, Dongfeng D; Dong, Xiaoqun X; Chang, Ping P; Kar, Siddhartha S; Li, Donghui D

Publication Date: 2014

Variant appearance in text: rs10482810

PubMed Link: 24465802

Variant Present in the following documents:

• Main text
• pone.0085942.pdf

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: TGFB2: V207L; rs10482810

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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