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: Gly91Trp

PubMed Link: 36901862

Variant Present in the following documents:

• Main text
• ijms-24-04423.pdf

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: NOBOX: 271G>T; G91W

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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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: 271G>T; G91W

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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: G91W; rs77587352

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: 271G>T; Gly91Trp

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: 271G>T; Gly91Trp

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: 271G>T; Gly91Trp; rs77587352

PubMed Link: 34095689

Variant Present in the following documents:

• Main text
• bvab032.pdf

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: NOBOX: 271G>T; Gly91Trp

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Plos One

França, Monica M MM; Funari, Mariana F A MFA; Lerario, Antonio M AM; Santos, Mariza G MG; Nishi, Mirian Y MY; Domenice, Sorahia S; Moraes, Daniela R DR; Costalonga, Everlayny F EF; Maciel, Gustavo A R GAR; Maciel-Guerra, Andrea T AT; Guerra-Junior, Gil G; Mendonca, Berenice B BB

Publication Date: 2020

Variant appearance in text: NOBOX: 271G>T; Gly91Trp; rs77587352

PubMed Link: 33095795

Variant Present in the following documents:

• Main text
• pone.0240795.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: NOBOX: 271G>T; Gly91Trp

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

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: 271G>T; Gly91Trp; rs77587352

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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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: NOBOX: 271G>T; Gly91Trp; rs77587352

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 271G>T; Gly91Trp; rs77587352

PubMed Link: 31293321

Variant Present in the following documents:

• Main text
• JHRS-12-85.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: NOBOX: G91W; rs77587352

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: rs77587352

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: G91W

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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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: 271G>T; G91W

PubMed Link: 24101221

Variant Present in the following documents:

• Main text

View BVdb publication page

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