Publications:

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Ovarian dysfunction in women with Turner syndrome.

Frontiers In Endocrinology

Fukami, Maki M

Publication Date: 2023

Variant appearance in text: BMP15: R68W

PubMed Link: 37033245

Variant Present in the following documents:

• Main text
• fendo-14-1160258.pdf

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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Ebiomedicine

Heddar, Abdelkader A; Ogur, Cagri C; Da Costa, Sabrina S; Braham, Inès I; Billaud-Rist, Line L; Findikli, Necati N; Beneteau, Claire C; Reynaud, Rachel R; Mahmoud, Khaled K; Legrand, Stéphanie S; Marchand, Maud M; Cedrin-Durnerin, Isabelle I; Cantalloube, Adèle A; Peigne, Maeliss M; Bretault, Marion M; Dagher-Hayeck, Benedicte B; Perol, Sandrine S; Droumaguet, Celine C; Cavkaytar, Sabri S; Nicolas-Bonne, Carole C; Elloumi, Hanen H; Khrouf, Mohamed M; Rougier-LeMasle, Charlotte C; Fradin, Melanie M; Le Boette, Elsa E; Luigi, Perrine P; Guerrot, Anne-Marie AM; Ginglinger, Emmanuelle E; Zampa, Amandine A; Fauconnier, Anais A; Auger, Nathalie N; Paris, Françoise F; Brischoux-Boucher, Elise E; Cabrol, Christelle C; Brun, Aurore A; Guyon, Laura L; Berard, Melanie M; Riviere, Axelle A; Gruchy, Nicolas N; Odent, Sylvie S; Gilbert-Dussardier, Brigitte B; Isidor, Bertrand B; Piard, Juliette J; Lambert, Laetitia L; Hamamah, Samir S; Guedj, Anne Marie AM; Brac de la Perriere, Aude A; Fernandez, Hervé H; Raffin-Sanson, Marie-Laure ML; Polak, Michel M; Letur, Hélène H; Epelboin, Sylvie S; Plu-Bureau, Genevieve G; Wołczyński, Sławomir S; Hieronimus, Sylvie S; Aittomaki, Kristiina K; Catteau-Jonard, Sophie S; Misrahi, Micheline M

Publication Date: 2022-10

Variant appearance in text: BMP15: 202C>T; Arg68Trp

PubMed Link: 36099812

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Journal Of The Endocrine Society

Crespo, Raiane P RP; Rocha, Thais P TP; Montenegro, Luciana R LR; Nishi, Mirian Y MY; Jorge, Alexander A L AAL; Maciel, Gustavo A R GAR; Baracat, Edmund E; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Gomes, Larissa G LG

Publication Date: 2022-09-01

Variant appearance in text: BMP15: 202C>T; Arg68Trp; rs104894763

PubMed Link: 35898701

Variant Present in the following documents:

• Main text
• bvac106.pdf

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Age Group-specific Reference Intervals for the Elecsys Anti-Müllerian Hormone Assay in Healthy Korean Women: a Nationwide Population-based Study.

Annals Of Laboratory Medicine

Ji, Misuk M; Kim, Kwang-Rae KR; Kim, Hyun-Ki HK; Lee, Woochang W; Yun, Yeo-Min YM; Chun, Sail S; Min, Won-Ki WK

Publication Date: 2022-11-01

Variant appearance in text: BMP15: 202C>T; Arg68Trp

PubMed Link: 35765870

Variant Present in the following documents:

• Main text
• alm-42-6-621.pdf

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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: R68W; rs104894763

PubMed Link: 35232444

Variant Present in the following documents:

• Main text
• 12958_2022_Article_913.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: BMP15: 202C>T; Arg68Trp; rs104894763

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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: R68W; rs104894763

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

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Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Frontiers In Endocrinology

Rossetti, Raffaella R; Moleri, Silvia S; Guizzardi, Fabiana F; Gentilini, Davide D; Libera, Laura L; Marozzi, Anna A; Moretti, Costanzo C; Brancati, Francesco F; Bonomi, Marco M; Persani, Luca L

Publication Date: 2021

Variant appearance in text: BMP15: 202C>T; Arg68Trp

PubMed Link: 34803902

Variant Present in the following documents:

• Main text
• fendo-12-664645.pdf

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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

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

Krausz, Csilla C; Riera-Escamilla, Antoni A; Moreno-Mendoza, Daniel D; Holleman, Kaylee K; Cioppi, Francesca F; Algaba, Ferran F; Pybus, Marc M; Friedrich, Corinna C; Wyrwoll, Margot J MJ; Casamonti, Elena E; Pietroforte, Sara S; Nagirnaja, Liina L; Lopes, Alexandra M AM; Kliesch, Sabine S; Pilatz, Adrian A; Carrell, Douglas T DT; Conrad, Donald F DF; Ars, Elisabet E; Ruiz-Castañé, Eduard E; Aston, Kenneth I KI; Baarends, Willy M WM; Tüttelmann, Frank F

Publication Date: 2020-12

Variant appearance in text: BMP15: 202C>T

PubMed Link: 32741963

Variant Present in the following documents:

• NIHMS1619687-supplement-Supplementary_Table_2.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: BMP15: R68W; rs104894763

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.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: R68W

PubMed Link: 29544636

Variant Present in the following documents:

• Main text

View BVdb publication page

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Using sheep genomes from diverse U.S. breeds to identify missense variants in genes affecting fecundity.

F1000Research

Heaton, Michael P MP; Smith, Timothy P L TPL; Freking, Bradley A BA; Workman, Aspen M AM; Bennett, Gary L GL; Carnahan, Jacky K JK; Kalbfleisch, Theodore S TS

Publication Date: 2017

Variant appearance in text: BMP15: R68W

PubMed Link: 28928950

Variant Present in the following documents:

• Main text
• f1000research-6-13224.pdf

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: rs104894763

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: 202C>T; R68W

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: R68W

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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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: 202C>T; R68W

PubMed Link: 24101221

Variant Present in the following documents:

• Main text

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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: 202C>T; R68W

PubMed Link: 19263482

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 202C>T; Arg68Trp

PubMed Link: 18614612

Variant Present in the following documents:

• Main text

View BVdb publication page

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