Publications:

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Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics

Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R

Publication Date: 2022

Variant appearance in text: FBN1: G343R; rs146726731

PubMed Link: 36437915

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder.

Genes

Alanis-Funes, Gerardo J GJ; Lira-Albarrán, Saúl S; Hernández-Pérez, Jesús J; Garza-Elizondo, Mario A MA; Ortíz-López, Rocío R; Elizondo, César V CV; Rojas-Martinez, Augusto A; Chávez-Santoscoy, Rocío A RA; Rangel-Escareño, Claudia C

Publication Date: 2022-07-18

Variant appearance in text: rs146726731

PubMed Link: 35886052

Variant Present in the following documents:

• genes-13-01269.pdf

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: FBN1: G343R; rs146726731

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: FBN1: 1027G>A; Gly343Arg

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s003.xlsx, sheet 3

View BVdb publication page

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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Human Mutation

Kasak, Laura L; Hunter, Jesse M JM; Udani, Rupa R; Bakolitsa, Constantina C; Hu, Zhiqiang Z; Adhikari, Aashish N AN; Babbi, Giulia G; Casadio, Rita R; Gough, Julian J; Guerrero, Rafael F RF; Jiang, Yuxiang Y; Joseph, Thomas T; Katsonis, Panagiotis P; Kotte, Sujatha S; Kundu, Kunal K; Lichtarge, Olivier O; Martelli, Pier Luigi PL; Mooney, Sean D SD; Moult, John J; Pal, Lipika R LR; Poitras, Jennifer J; Radivojac, Predrag P; Rao, Aditya A; Sivadasan, Naveen N; Sunderam, Uma U; Saipradeep, V G VG; Yin, Yizhou Y; Zaucha, Jan J; Brenner, Steven E SE; Meyn, M Stephen MS

Publication Date: 2019-09

Variant appearance in text: FBN1: Gly343Arg

PubMed Link: 31322791

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next generation sequencing analysis of patients with familial cervical artery dissection.

European Stroke Journal

Grond-Ginsbach, Caspar C; Brandt, Tobias T; Kloss, Manja M; Aksay, Suna Su SS; Lyrer, Philipp P; Traenka, Christopher C; Erhart, Philipp P; Martin, Juan Jose JJ; Altintas, Ayse A; Siva, Aksel A; de Freitas, Gabriel R GR; Thie, Andreas A; Machetanz, Jochen J; Baumgartner, Ralf W RW; Dichgans, Martin M; Engelter, Stefan T ST

Publication Date: 2017-06

Variant appearance in text: FBN1: Gly343Arg; rs146726731

PubMed Link: 31008308

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monogenic causes of chronic kidney disease in adults.

Kidney International

Connaughton, Dervla M DM; Kennedy, Claire C; Shril, Shirlee S; Mann, Nina N; Murray, Susan L SL; Williams, Patrick A PA; Conlon, Eoin E; Nakayama, Makiko M; van der Ven, Amelie T AT; Ityel, Hadas H; Kause, Franziska F; Kolvenbach, Caroline M CM; Dai, Rufeng R; Vivante, Asaf A; Braun, Daniela A DA; Schneider, Ronen R; Kitzler, Thomas M TM; Moloney, Brona B; Moran, Conor P CP; Smyth, John S JS; Kennedy, Alan A; Benson, Katherine K; Stapleton, Caragh C; Denton, Mark M; Magee, Colm C; O'Seaghdha, Conall M CM; Plant, William D WD; Griffin, Matthew D MD; Awan, Atif A; Sweeney, Clodagh C; Mane, Shrikant M SM; Lifton, Richard P RP; Griffin, Brenda B; Leavey, Sean S; Casserly, Liam L; de Freitas, Declan G DG; Holian, John J; Dorman, Anthony A; Doyle, Brendan B; Lavin, Peter J PJ; Little, Mark A MA; Conlon, Peter J PJ; Hildebrandt, Friedhelm F

Publication Date: 2019-04

Variant appearance in text: FBN1: 1027G>A; Gly343Arg

PubMed Link: 30773290

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 1027G>A; Gly343Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Bmc Medical Genetics

Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B

Publication Date: 2015-12-18

Variant appearance in text: FBN1: Gly343Arg

PubMed Link: 26684006

Variant Present in the following documents:

• Main text
• 12881_2015_Article_260.pdf

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: FBN1: 1027G>A; Gly343Arg; rs146726731

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Bmc Genetics

Yang, Ren-Qiang RQ; Jabbari, Javad J; Cheng, Xiao-Shu XS; Jabbari, Reza R; Nielsen, Jonas B JB; Risgaard, Bjarke B; Chen, Xu X; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper Hastrup JH; Olesen, Morten S MS; Tfelt-Hansen, Jacob J

Publication Date: 2014-06-18

Variant appearance in text: FBN1: 1027G>A; G343R; rs146726731

PubMed Link: 24941995

Variant Present in the following documents:

• Main text
• 1471-2156-15-74.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: FBN1: G343R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Spontaneous pneumothorax as manifestation of Marfan syndrome.

Bmj Case Reports

Viveiro, Carolina C; Rocha, Patricia P; Carvalho, Cristiana C; Zarcos, Maria Manuel MM

Publication Date: 2013-12-05

Variant appearance in text: FBN1: 1027G>A; Gly343Arg

PubMed Link: 24311428

Variant Present in the following documents:

• Main text

View BVdb publication page

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