Publications:

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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Frontiers In Cell And Developmental Biology

Colin, Estelle E; Duffourd, Yannis Y; Chevarin, Martin M; Tisserant, Emilie E; Verdez, Simon S; Paccaud, Julien J; Bruel, Ange-Line AL; Tran Mau-Them, Frédéric F; Denommé-Pichon, Anne-Sophie AS; Thevenon, Julien J; Safraou, Hana H; Besnard, Thomas T; Goldenberg, Alice A; Cogné, Benjamin B; Isidor, Bertrand B; Delanne, Julian J; Sorlin, Arthur A; Moutton, Sébastien S; Fradin, Mélanie M; Dubourg, Christèle C; Gorce, Magali M; Bonneau, Dominique D; El Chehadeh, Salima S; Debray, François-Guillaume FG; Doco-Fenzy, Martine M; Uguen, Kevin K; Chatron, Nicolas N; Aral, Bernard B; Marle, Nathalie N; Kuentz, Paul P; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-François JF; Sanlaville, Damien D; Callier, Patrick P; Philippe, Christophe C; Thauvin-Robinet, Christel C; Faivre, Laurence L; Vitobello, Antonio A

Publication Date: 2023

Variant appearance in text: AURKC: 744C>G; Tyr248*

PubMed Link: 36926521

Variant Present in the following documents:

• Main text
• fcell-11-1021920.pdf

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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: AURKC: Y248X; rs55658999

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Genes

Okutman, Ozlem O; Tarabeux, Julien J; Muller, Jean J; Viville, Stéphane S

Publication Date: 2021-03-12

Variant appearance in text: AURKC: Y248*

PubMed Link: 33809228

Variant Present in the following documents:

• Main text
• genes-12-00410.pdf
• genes-12-00410-s001.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: AURKC: Y248X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: AURKC: 744C>G; Tyr248Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: AURKC: 744C>G; Tyr248*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

Journal Of Assisted Reproduction And Genetics

Hua, Juan J; Wan, Yang-Yang YY

Publication Date: 2019-03

Variant appearance in text: AURKC: 744C>G; Y248*

PubMed Link: 30594972

Variant Present in the following documents:

• Main text
• 10815_2018_Article_1374.pdf

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Genetic evaluation of patients with non-syndromic male infertility.

Journal Of Assisted Reproduction And Genetics

Okutman, Ozlem O; Rhouma, Maroua Ben MB; Benkhalifa, Moncef M; Muller, Jean J; Viville, Stéphane S

Publication Date: 2018-11

Variant appearance in text: AURKC: 744C>G; Y248*

PubMed Link: 30259277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: AURKC: 744C>G; Y248*; rs55658999

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: AURKC: 744C>G; Tyr248*

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Functions of Aurora kinase C in meiosis and cancer.

Frontiers In Cell And Developmental Biology

Quartuccio, Suzanne M SM; Schindler, Karen K

Publication Date: 2015

Variant appearance in text: AURKC: Y248X

PubMed Link: 26347867

Variant Present in the following documents:

• Main text
• fcell-03-00050.pdf

View BVdb publication page

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Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Journal Of Assisted Reproduction And Genetics

Ghédir, Houda H; Gribaa, Moez M; Mamaî, Ons O; Ben Charfeddine, Ilhem I; Braham, Asma A; Amara, Abdelbasset A; Mehdi, Meriem M; Saad, Ali A; Ibala-Romdhane, Samira S

Publication Date: 2015-11

Variant appearance in text: AURKC: 744C>G; Y248*

PubMed Link: 26341096

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic aspects of monomorphic teratozoospermia: a review.

Journal Of Assisted Reproduction And Genetics

De Braekeleer, Marc M; Nguyen, Minh Huong MH; Morel, Frédéric F; Perrin, Aurore A

Publication Date: 2015-04

Variant appearance in text: AURKC: Y248X

PubMed Link: 25711835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Asian Journal Of Andrology

Ounis, Leyla L; Zoghmar, Abdelali A; Coutton, Charles C; Rouabah, Leila L; Hachemi, Maroua M; Martinez, Delphine D; Martinez, Guillaume G; Bellil, Ines I; Khelifi, Douadi D; Arnoult, Christophe C; Fauré, Julien J; Benbouhedja, Sebti S; Rouabah, Abdelkader A; Ray, Pierre F PF

Publication Date: 2015

Variant appearance in text: AURKC: Y248*

PubMed Link: 25219909

Variant Present in the following documents:

• Main text
• AJA-17-68.pdf

View BVdb publication page

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