Publications:

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Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.

Cancer Prevention Research (Philadelphia, Pa.)

MacFarland, Suzanne P SP; Ebrahimzadeh, Jessica E JE; Zelley, Kristin K; Begum, Lubna L; Bass, Lee M LM; Brand, Randall E RE; Dudley, Beth B; Fishman, Douglas S DS; Ganzak, Amanda A; Karloski, Eve E; Latham, Alicia A; Llor, Xavier X; Plon, Sharon S; Riordan, Mary K MK; Scollon, Sarah R SR; Stadler, Zsofia K ZK; Syngal, Sapna S; Ukaegbu, Chinedu C; Weiss, Jennifer M JM; Yurgelun, Matthew B MB; Brodeur, Garrett M GM; Mamula, Petar P; Katona, Bryson W BW

Publication Date: 2021-02

Variant appearance in text: BMPR1A: 1433G>A

PubMed Link: 33097490

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Bmc Medical Genetics

Liu, Qing Q; Liu, Mengling M; Liu, Tianshu T; Yu, Yiyi Y

Publication Date: 2020-10-08

Variant appearance in text: BMPR1A: Arg478His; rs113849804

PubMed Link: 33032550

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1135.pdf

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: BMPR1A: R478H

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BMPR1A: 1433G>A; Arg478His

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: BMPR1A: 1433G>A; Arg478His; rs113849804

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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: BMPR1A: 1433G>A; Arg478His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: BMPR1A: 1433G>A; R478H; rs113849804

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

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

D'Alessandro, Lisa C A LC; Al Turki, Saeed S; Manickaraj, Ashok Kumar AK; Manase, Dorin D; Mulder, Barbara J M BJ; Bergin, Lynn L; Rosenberg, Herschel C HC; Mondal, Tapas T; Gordon, Elaine E; Lougheed, Jane J; Smythe, John J; Devriendt, Koen K; Bhattacharya, Shoumo S; Watkins, Hugh H; Bentham, Jamie J; Bowdin, Sarah S; Hurles, Matthew E ME; Mital, Seema S

Publication Date: 2016-02

Variant appearance in text: BMPR1A: R478H; rs113849804

PubMed Link: 25996639

Variant Present in the following documents:

View BVdb publication page

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