Publications:

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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: FANCC: 1642C>T; Arg548Ter

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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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: FANCC: R548*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: FANCC: 1642C>T; Arg548Ter; rs104886457

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 5

View BVdb publication page

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Genotype-phenotype and outcome associations in patients with Fanconi anemia: The National Cancer Institute cohort.

Haematologica

Altintas, Burak B; Giri, Neelam N; McReynolds, Lisa J LJ; Best, Ana A; Alter, Blanche P BP

Publication Date: 2022-04-14

Variant appearance in text: rs104886457

PubMed Link: 35417938

Variant Present in the following documents:

• 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx, sheet 2

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: FANCC: R548X; rs104886457

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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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: FANCC: 1642C>T; R548X; rs104886457

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: FANCC: 1642C>T; Arg548Ter; rs104886457

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Molecular Genetics & Genomic Medicine

Thompson, Ashley S AS; Saba, Nusrat N; McReynolds, Lisa J LJ; Munir, Saeeda S; Ahmed, Parvez P; Sajjad, Sumaira S; Jones, Kristine K; Yeager, Meredith M; Donovan, Frank X FX; Chandrasekharappa, Settara C SC; Alter, Blanche P BP; Savage, Sharon A SA; Rehman, Sadia S

Publication Date: 2021-07

Variant appearance in text: FANCC: 1642C>T; Arg548*; rs104886457

PubMed Link: 33960719

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: FANCC: R548*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.

International Journal Of Preventive Medicine

Negahdari, Samira S; Zamani, Mina M; Seifi, Tahereh T; Sedighzadeh, Sahar S; Mazaheri, Neda N; Zeighami, Jawaher J; Sedaghat, Alireza A; Saberi, Alihossein A; Hamid, Mohammad M; Keikhaei, Bijan B; Radpour, Ramin R; Shariati, Gholamreza G; Galehdari, Hamid H

Publication Date: 2020

Variant appearance in text: FANCC: R548X

PubMed Link: 33088445

Variant Present in the following documents:

• IJPVM-11-117.pdf

View BVdb publication page

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Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.

Scientific Reports

Aoude, Lauren G LG; Bonazzi, Vanessa F VF; Brosda, Sandra S; Patel, Kalpana K; Koufariotis, Lambros T LT; Oey, Harald H; Nones, Katia K; Wood, Scott S; Pearson, John V JV; Lonie, James M JM; Arneil, Melissa M; Atkinson, Victoria V; Smithers, B Mark BM; Waddell, Nicola N; Barbour, Andrew P AP

Publication Date: 2020-10-19

Variant appearance in text: FANCC: R548*; rs104886457

PubMed Link: 33077847

Variant Present in the following documents:

• 41598_2020_74956_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.

International Journal Of Molecular Sciences

Bezzerri, Valentino V; Api, Martina M; Allegri, Marisole M; Fabrizzi, Benedetta B; Corey, Seth J SJ; Cipolli, Marco M

Publication Date: 2020-06-30

Variant appearance in text: FANCC: R548X

PubMed Link: 32630050

Variant Present in the following documents:

• ijms-21-04672.pdf

View BVdb publication page

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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D

Publication Date: 2020-10

Variant appearance in text: FANCC: 1642C>T

PubMed Link: 32595206

Variant Present in the following documents:

• 41436_2020_869_MOESM2_ESM.xlsx, sheet 11

View BVdb publication page

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Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics

Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P

Publication Date: 2021-05

Variant appearance in text: FANCC: 1642C>T; R548*; rs104886457

PubMed Link: 32546565

Variant Present in the following documents:

• jmedgenet-2019-106739supp001.xlsx, sheet 4

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: FANCC: 1642C>T; R548*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: FANCC: 1642C>T; Arg548*; rs104886457

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: FANCC: 1642C>T; R548*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G

Publication Date: 2020-04

Variant appearance in text: FANCC: 1642C>T; Arg548*

PubMed Link: 31844177

Variant Present in the following documents:

• 41436_2019_720_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Two truncating variants in FANCC and breast cancer risk.

Scientific Reports

Dörk, Thilo T; Peterlongo, Paolo P; Mannermaa, Arto A; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Ahearn, Thomas T; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Aronson, Kristan J KJ; Augustinsson, Annelie A; Freeman, Laura E Beane LEB; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Behrens, Sabine S; Bermisheva, Marina M; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Brauch, Hiltrud H; Brenner, Hermann H; Burwinkel, Barbara B; Canzian, Federico F; Chan, Tsun L TL; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Choi, Ji-Yeob JY; Christiansen, Hans H; Clarke, Christine L CL; Couch, Fergus J FJ; Czene, Kamila K; Daly, Mary B MB; Dos-Santos-Silva, Isabel I; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Fritschi, Lin L; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gao, Chi C; Gapstur, Susan M SM; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; Giles, Graham G GG; Goldberg, Mark S MS; Goldgar, David E DE; Guénel, Pascal P; Haeberle, Lothar L; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hauke, Jan J; Hein, Alexander A; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Tony T; Huo, Dezheng D; Ito, Hidemi H; Iwasaki, Motoki M; Jakubowska, Anna A; Janni, Wolfgang W; John, Esther M EM; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Khusnutdinova, Elza E; Kim, Sung-Won SW; Kitahara, Cari M CM; Koutros, Stella S; Kraft, Peter P; Kristensen, Vessela N VN; Kwong, Ava A; Lambrechts, Diether D; Marchand, Loic Le LL; Li, Jingmei J; Lindström, Sara S; Linet, Martha M; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Lubiński, Jan J; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Elena E; Matsuo, Keitaro K; Mavroudis, Dimitris D; Meindl, Alfons A; Menon, Usha U; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Mulligan, Anna Marie AM; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Newman, William G WG; Offit, Kenneth K; Olopade, Olufunmilayo I OI; Olshan, Andrew F AF; Olson, Janet E JE; Olsson, Håkan H; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Pohl-Rescigno, Esther E; Presneau, Nadege N; Rack, Brigitte B; Radice, Paolo P; Rashid, Muhammad U MU; Rennert, Gad G; Rennert, Hedy S HS; Romero, Atocha A; Ruebner, Matthias M; Saloustros, Emmanouil E; Schmidt, Marjanka K MK; Schmutzler, Rita K RK; Schneider, Michael O MO; Schoemaker, Minouk J MJ; Scott, Christopher C; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Simard, Jacques J; Slager, Susan S; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Stone, Jennifer J; Surowy, Harald H; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tapper, William J WJ; Teo, Soo H SH; Terry, Mary Beth MB; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tsugane, Shoichiro S; Untch, Michael M; Vachon, Celine M CM; Ouweland, Ans M W van den AMWVD; Veen, Elke M van EMV; Vijai, Joseph J; Wendt, Camilla C; Wolk, Alicja A; Yu, Jyh-Cherng JC; Zheng, Wei W; Ziogas, Argyrios A; Ziv, Elad E; , ; , ; Dunning, Alison M AM; Pharoah, Paul D P PDP; Schindler, Detlev D; Devilee, Peter P; Easton, Douglas F DF

Publication Date: 2019-08-29

Variant appearance in text: FANCC: R548X; rs104886457

PubMed Link: 31467304

Variant Present in the following documents:

• Main text
• 41598_2019_Article_48804.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: FANCC: R548X; rs104886457

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: FANCC: 1642C>T; R548*

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.

Cancer Genetics

Slavin, Thomas T; Neuhausen, Susan L SL; Rybak, Christina C; Solomon, Ilana I; Nehoray, Bita B; Blazer, Kathleen K; Niell-Swiller, Mariana M; Adamson, Aaron W AW; Yuan, Yate-Ching YC; Yang, Kai K; Sand, Sharon S; Castillo, Danielle D; Herzog, Josef J; Wu, Xiwei X; Tao, Shu S; Chavez, Tanya T; Woo, Yanghee Y; Chao, Joseph J; Mora, Pamela P; Horcasitas, Darling D; Weitzel, Jeffrey J

Publication Date: 2017-10

Variant appearance in text: FANCC: R548*

PubMed Link: 29025585

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FANCC: 1642C>T; Arg548Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations.

Expert Review Of Hematology

Ebens, Christen L CL; MacMillan, Margaret L ML; Wagner, John E JE

Publication Date: 2017-01

Variant appearance in text: FANCC: R548X

PubMed Link: 27929686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: FANCC: R548*

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s3.xlsx, sheet 1

View BVdb publication page

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Update of the human and mouse Fanconi anemia genes.

Human Genomics

Dong, Hongbin H; Nebert, Daniel W DW; Bruford, Elspeth A EA; Thompson, David C DC; Joenje, Hans H; Vasiliou, Vasilis V

Publication Date: 2015-11-24

Variant appearance in text: FANCC: R548X

PubMed Link: 26596371

Variant Present in the following documents:

• Main text
• 40246_2015_Article_54.pdf

View BVdb publication page

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The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.

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

Huard, Caroline C CC; Tremblay, Cédric S CS; Magron, Audrey A; Lévesque, Georges G; Carreau, Madeleine M

Publication Date: 2014-02-11

Variant appearance in text: FANCC: R548X

PubMed Link: 24469828

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

Anemia

Gille, Johan J P JJ; Floor, Karijn K; Kerkhoven, Lianne L; Ameziane, Najim N; Joenje, Hans H; de Winter, Johan P JP

Publication Date: 2012

Variant appearance in text: FAC: R548X

PubMed Link: 22778927

Variant Present in the following documents:

• Main text
• ANE2012-603253.pdf

View BVdb publication page

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Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

American Journal Of Human Genetics

Hartmann, Linda L; Neveling, Kornelia K; Borkens, Stephanie S; Schneider, Hildegard H; Freund, Marcel M; Grassman, Elke E; Theiss, Stephan S; Wawer, Angela A; Burdach, Stefan S; Auerbach, Arleen D AD; Schindler, Detlev D; Hanenberg, Helmut H; Schaal, Heiner H

Publication Date: 2010-10-08

Variant appearance in text: FANCC: 1642C>T; R548X

PubMed Link: 20869034

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Külm, Maigi M; Gardner, Phyllis I PI; Pergament, Eugene P EP; Fiddler, Morris B MB

Publication Date: 2007-04

Variant appearance in text: FANCC: R548X

PubMed Link: 17384215

Variant Present in the following documents:

• Main text

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