Publications:

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Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.

Reproductive Biology And Endocrinology : Rb&E

Afkhami, Fatemeh F; Shahbazi, Shirin S; Farzadi, Laya L; Danaei, Shahla S

Publication Date: 2022-03-01

Variant appearance in text: BMP15: A180T; rs104894767

PubMed Link: 35232444

Variant Present in the following documents:

• Main text
• 12958_2022_Article_913.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: BMP15: A180T; rs104894767

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.

Journal Of Ovarian Research

Ferrarini, Eleonora E; De Marco, Giuseppina G; Orsolini, Francesca F; Gianetti, Elena E; Benelli, Elena E; Fruzzetti, Franca F; Simoncini, Tommaso T; Agretti, Patrizia P; Tonacchera, Massimo M

Publication Date: 2021-06-29

Variant appearance in text: BMP15: A180T

PubMed Link: 34187539

Variant Present in the following documents:

• Main text
• 13048_2021_Article_836.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: BMP15: A180T; rs104894767

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

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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: BMP15: A180T; rs104894767

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Molecular Aspects and Clinical Relevance of GDF9 and BMP15 in Ovarian Function.

Vitamins And Hormones

Belli, Martina M; Shimasaki, Shunichi S

Publication Date: 2018

Variant appearance in text: BMP15: A180T

PubMed Link: 29544636

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: BMP15: A180T; rs104894767

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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: rs104894767

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetics of primary ovarian insufficiency: new developments and opportunities.

Human Reproduction Update

Qin, Yingying Y; Jiao, Xue X; Simpson, Joe Leigh JL; Chen, Zi-Jiang ZJ

Publication Date: 2015

Variant appearance in text: BMP15: 538G>A; A180T

PubMed Link: 26243799

Variant Present in the following documents:

• Main text
• dmv036.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BMP15: A180T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: BMP15: A180T; rs104894767

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Biodata Mining

Preeprem, Thanawadee T; Gibson, Greg G

Publication Date: 2013-12-23

Variant appearance in text: BMP15: A180T; rs104894767

PubMed Link: 24365473

Variant Present in the following documents:

• Main text
• 1756-0381-6-24.pdf
• 1756-0381-6-24-S2.xlsx, sheet 9

View BVdb publication page

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: BMP15: Ala180Thr; rs104894767

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic markers of ovarian reserve.

Seminars In Reproductive Medicine

Wood, Michelle A MA; Rajkovic, Aleksandar A

Publication Date: 2013-11

Variant appearance in text: BMP15: 538G>A; A180T

PubMed Link: 24101221

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: BMP15: 538G>A; A180T; rs104894767

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.

Human Mutation

Rossetti, Raffaella R; Di Pasquale, Elisa E; Marozzi, Anna A; Bione, Silvia S; Toniolo, Daniela D; Grammatico, Paola P; Nelson, Lawrence M LM; Beck-Peccoz, Paolo P; Persani, Luca L

Publication Date: 2009-05

Variant appearance in text: BMP15: 538G>A; A180T

PubMed Link: 19263482

Variant Present in the following documents:

• Main text

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The biology of infertility: research advances and clinical challenges.

Nature Medicine

Matzuk, Martin M MM; Lamb, Dolores J DJ

Publication Date: 2008-11

Variant appearance in text: BMP15: A180T

PubMed Link: 18989307

Variant Present in the following documents:

• Main text

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Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.

Human Reproduction (Oxford, England)

Zhao, Zhen Zhen ZZ; Painter, Jodie N JN; Palmer, James S JS; Webb, Penelope M PM; Hayward, Nicholas K NK; Whiteman, David C DC; Boomsma, Dorret I DI; Martin, Nicholas G NG; Duffy, David L DL; Montgomery, Grant W GW

Publication Date: 2008-10

Variant appearance in text: BMP15: 538G>A; Ala180Thr

PubMed Link: 18614612

Variant Present in the following documents:

• Main text

View BVdb publication page

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