Publications:

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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: CLN5: N242K; rs138611001

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Cellular And Molecular Life Sciences : Cmls

Basak, I I; Wicky, H E HE; McDonald, K O KO; Xu, J B JB; Palmer, J E JE; Best, H L HL; Lefrancois, S S; Lee, S Y SY; Schoderboeck, L L; Hughes, S M SM

Publication Date: 2021-05

Variant appearance in text: CLN5: N242K

PubMed Link: 33792748

Variant Present in the following documents:

• Main text
• 18_2021_Article_3813.pdf

View BVdb publication page

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Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Frontiers In Genetics

Luo, Sukun S; Bi, Bo B; Zhu, Baiqi B; Tan, Li L; Zhao, Peiwei P; Huang, Yufeng Y; Wu, Gefei G; Zhou, Aifeng A; He, Xuelian X

Publication Date: 2020

Variant appearance in text: CLN5: 726C>A; Asn242Lys

PubMed Link: 32983231

Variant Present in the following documents:

• Main text
• fgene-11-536221.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CLN5: N242K

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 3
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: CLN5: N242K; rs138611001

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: CLN5: N242K; rs138611001

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: CLN5: 726C>A; N242K

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CLN5: 726C>A; N242K; rs138611001

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: CLN5: N242K

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal Of Alzheimer'S Disease : Jad

Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL

Publication Date: 2015

Variant appearance in text: rs138611001

PubMed Link: 25812849

Variant Present in the following documents:

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs138611001

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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: CLN5: N242K

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet Journal Of Rare Diseases

Fernández-Marmiesse, Ana A; Morey, Marcos M; Pineda, Merce M; Eiris, Jesús J; Couce, Maria Luz ML; Castro-Gago, Manuel M; Fraga, Jose Maria JM; Lacerda, Lucia L; Gouveia, Sofia S; Pérez-Poyato, Maria Socorro MS; Armstrong, Judith J; Castiñeiras, Daisy D; Cocho, Jose A JA

Publication Date: 2014-04-25

Variant appearance in text: CLN5: 726C>A; N242K

PubMed Link: 24767253

Variant Present in the following documents:

• Main text
• 1750-1172-9-59.pdf

View BVdb publication page

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