Publications:

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Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

International Journal Of Molecular Sciences

Chen, Mengchi M; Jiang, Haotian H; Zhang, Chunping C

Publication Date: 2023-02-23

Variant appearance in text: NOBOX: Arg117Trp

PubMed Link: 36901862

Variant Present in the following documents:

• Main text
• ijms-24-04423.pdf

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: NOBOX: 349C>T; R117W

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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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: NOBOX: R117W

PubMed Link: 36099812

Variant Present in the following documents:

• Main text
• main.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: NOBOX: R117W; rs7800847

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Molecular Genetics & Genomic Medicine

Sassi, Asma A; Désir, Julie J; Duerinckx, Sarah S; Soblet, Julie J; Van Dooren, Sonia S; Bonduelle, Maryse M; Abramowicz, Marc M; Delbaere, Anne A

Publication Date: 2021-10

Variant appearance in text: NOBOX: 349C>T; Arg117Trp

PubMed Link: 34480423

Variant Present in the following documents:

• Main text
• MGG3-9-e1776.pdf

View BVdb publication page

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Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Molecular Genetics & Genomic Medicine

Sassi, Asma A; Désir, Julie J; Duerinckx, Sarah S; Soblet, Julie J; Van Dooren, Sonia S; Bonduelle, Maryse M; Abramowicz, Marc M; Delbaere, Anne A

Publication Date: 2021-10

Variant appearance in text: NOBOX: 349C>T; Arg117Trp

PubMed Link: 34480423

Variant Present in the following documents:

• Main text
• MGG3-9-e1776.pdf

View BVdb publication page

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Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Journal Of The Endocrine Society

Eskenazi, Sarah S; Bachelot, Anne A; Hugon-Rodin, Justine J; Plu-Bureau, Genevieve G; Gompel, Anne A; Catteau-Jonard, Sophie S; Molina-Gomes, Denise D; Dewailly, Didier D; Dodé, Catherine C; Christin-Maitre, Sophie S; Touraine, Philippe P

Publication Date: 2021-07-01

Variant appearance in text: NOBOX: 349C>T; Arg117Trp; rs7800847

PubMed Link: 34095689

Variant Present in the following documents:

• Main text
• bvab032.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: NOBOX: 349C>T; Arg117Trp; rs7800847

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders.

Journal Of Human Reproductive Sciences

Batiha, Osamah O; Alahmad, Nour Alhoda NA; Sindiani, Amer A; Bodoor, Khaldon K; Shaaban, Sherin S; Al-Smadi, Mohammad M

Publication Date: 2019

Variant appearance in text: NOBOX: 349C>T; Arg117Trp; rs7800847

PubMed Link: 31293321

Variant Present in the following documents:

• Main text
• JHRS-12-85.pdf

View BVdb publication page

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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: NOBOX: R117W; rs7800847

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, 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: rs7800847

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: NOBOX: R117W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: NOBOX: R117W; rs7800847

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: NOBOX: R117W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

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: NOBOX: 349C>T; R117W

PubMed Link: 24101221

Variant Present in the following documents:

• Main text

View BVdb publication page

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