Publications:

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A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility.

Croatian Medical Journal

Sengun, Derya Akyuz DA; Tanoglu, Esra Guzel EG; Ulucan, Hakan H

Publication Date: 2021-06-30

Variant appearance in text: FKBPL: Asn28Ser

PubMed Link: 34212559

Variant Present in the following documents:

• Main text
• CroatMedJ_62_0227.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: FKBPL: N28S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 47

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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: FKBPL: 83A>G; Asn28Ser

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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Low-frequency coding variants at 6p21.33 and 20q11.21 are associated with lung cancer risk in Chinese populations.

American Journal Of Human Genetics

Jin, Guangfu G; Zhu, Meng M; Yin, Rong R; Shen, Wei W; Liu, Jia J; Sun, Jie J; Wang, Cheng C; Dai, Juncheng J; Ma, Hongxia H; Wu, Chen C; Yin, Zhihua Z; Huang, Jiaqi J; Higgs, Brandon W BW; Xu, Lin L; Yao, Yihong Y; Christiani, David C DC; Amos, Christopher I CI; Hu, Zhibin Z; Zhou, Baosen B; Shi, Yongyong Y; Lin, Dongxin D; Shen, Hongbing H

Publication Date: 2015-05-07

Variant appearance in text: FKBPL: Asn28Ser; rs117160266

PubMed Link: 25937444

Variant Present in the following documents:

• Main text

View BVdb publication page

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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

Human Molecular Genetics

Grati, M'hamed M; Chakchouk, Imen I; Ma, Qi Q; Bensaid, Mariem M; Desmidt, Alexandra A; Turki, Nouha N; Yan, Denise D; Baanannou, Aissette A; Mittal, Rahul R; Driss, Nabil N; Blanton, Susan S; Farooq, Amjad A; Lu, Zhongmin Z; Liu, Xue Zhong XZ; Masmoudi, Saber S

Publication Date: 2015-05-01

Variant appearance in text: rs117160266

PubMed Link: 25601850

Variant Present in the following documents:

• Main text

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: FKBPL: N28S; rs117160266

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: FKBPL: N28S; rs117160266

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs117160266

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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