Publications:

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A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.

Pediatric Investigation

Liu, Lili L; Zhou, Yunyu Y; Liu, Yue Y; Ding, Jiaojiao J; Xie, Yan Y; Li, Ningdong N

Publication Date: 2023-06

Variant appearance in text: CEP164: 277C>T

PubMed Link: 37324592

Variant Present in the following documents:

• Main text
• PED4-7-140-s001.pdf
• PED4-7-140.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CEP164: 277C>T; Arg93Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: CEP164: R93W; rs387907310

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.

Structure (London, England : 1993)

Rosa E Silva, Ivan I; Binó, Lucia L; Johnson, Christopher M CM; Rutherford, Trevor J TJ; Neuhaus, David D; Andreeva, Antonina A; Čajánek, Lukáš L; van Breugel, Mark M

Publication Date: 2022-01-06

Variant appearance in text: CEP164: R93W

PubMed Link: 34499853

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc2.pdf

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Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.

Structure (London, England : 1993)

Rosa E Silva, Ivan I; Binó, Lucia L; Johnson, Christopher M CM; Rutherford, Trevor J TJ; Neuhaus, David D; Andreeva, Antonina A; Čajánek, Lukáš L; van Breugel, Mark M

Publication Date: 2021-09-07

Variant appearance in text: CEP164: R93W

PubMed Link: 34499853

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Scientific Reports

Maria, Maleeha M; Lamers, Ideke J C IJ; Schmidts, Miriam M; Ajmal, Muhammad M; Jaffar, Sulman S; Ullah, Ehsan E; Mustafa, Bilal B; Ahmad, Shakeel S; Nazmutdinova, Katia K; Hoskins, Bethan B; van Wijk, Erwin E; Koster-Kamphuis, Linda L; Khan, Muhammad Imran MI; Beales, Phil L PL; Cremers, Frans P M FP; Roepman, Ronald R; Azam, Maleeha M; Arts, Heleen H HH; Qamar, Raheel R

Publication Date: 2016-10-06

Variant appearance in text: CEP164: R93W

PubMed Link: 27708425

Variant Present in the following documents:

• Main text
• srep34764.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CEP164: 277C>T; R93W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: CEP164: R93W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.

Plos Genetics

Slaats, Gisela G GG; Ghosh, Amiya K AK; Falke, Lucas L LL; Le Corre, Stéphanie S; Shaltiel, Indra A IA; van de Hoek, Glenn G; Klasson, Timothy D TD; Stokman, Marijn F MF; Logister, Ive I; Verhaar, Marianne C MC; Goldschmeding, Roel R; Nguyen, Tri Q TQ; Drummond, Iain A IA; Hildebrandt, Friedhelm F; Giles, Rachel H RH

Publication Date: 2014-10

Variant appearance in text: CEP164: R93W

PubMed Link: 25340510

Variant Present in the following documents:

• Main text
• pgen.1004594.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CEP164: R93W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell

Chaki, Moumita M; Airik, Rannar R; Ghosh, Amiya K AK; Giles, Rachel H RH; Chen, Rui R; Slaats, Gisela G GG; Wang, Hui H; Hurd, Toby W TW; Zhou, Weibin W; Cluckey, Andrew A; Gee, Heon Yung HY; Ramaswami, Gokul G; Hong, Chen-Jei CJ; Hamilton, Bruce A BA; Cervenka, Igor I; Ganji, Ranjani Sri RS; Bryja, Vitezslav V; Arts, Heleen H HH; van Reeuwijk, Jeroen J; Oud, Machteld M MM; Letteboer, Stef J F SJ; Roepman, Ronald R; Husson, Hervé H; Ibraghimov-Beskrovnaya, Oxana O; Yasunaga, Takayuki T; Walz, Gerd G; Eley, Lorraine L; Sayer, John A JA; Schermer, Bernhard B; Liebau, Max C MC; Benzing, Thomas T; Le Corre, Stephanie S; Drummond, Iain I; Janssen, Sabine S; Allen, Susan J SJ; Natarajan, Sivakumar S; O'Toole, John F JF; Attanasio, Massimo M; Saunier, Sophie S; Antignac, Corinne C; Koenekoop, Robert K RK; Ren, Huanan H; Lopez, Irma I; Nayir, Ahmet A; Stoetzel, Corinne C; Dollfus, Helene H; Massoudi, Rustin R; Gleeson, Joseph G JG; Andreoli, Sharon P SP; Doherty, Dan G DG; Lindstrad, Anna A; Golzio, Christelle C; Katsanis, Nicholas N; Pape, Lars L; Abboud, Emad B EB; Al-Rajhi, Ali A AA; Lewis, Richard A RA; Omran, Heymut H; Lee, Eva Y-H P EY; Wang, Shaohui S; Sekiguchi, Joann M JM; Saunders, Rudel R; Johnson, Colin A CA; Garner, Elizabeth E; Vanselow, Katja K; Andersen, Jens S JS; Shlomai, Joseph J; Nurnberg, Gudrun G; Nurnberg, Peter P; Levy, Shawn S; Smogorzewska, Agata A; Otto, Edgar A EA; Hildebrandt, Friedhelm F

Publication Date: 2012-08-03

Variant appearance in text: CEP164: 277C>T; R93W

PubMed Link: 22863007

Variant Present in the following documents:

• Main text

View BVdb publication page

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