Publications:

---

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs113970444

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: FAT1: R1268Q; rs113970444

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

A novel nonsense variant in MED12 associated with malformations in a female fetus.

Clinical Case Reports

Faergeman, Soren Lejsted SL; Becher, Naja N; Andreasen, Lotte L; Christiansen, Marianne M; Frost, Lise L; Vogel, Ida I

Publication Date: 2021-12

Variant appearance in text: FAT1: 3803G>A; Arg1268Gln; rs113970444

PubMed Link: 34987808

Variant Present in the following documents:

• CCR3-9-e05124-s001.xlsx, sheet 2

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: FAT1: R1268Q; rs113970444

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: FAT1: R1268Q; rs113970444

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: FAT1: 3803G>A; R1268Q; rs113970444

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

View BVdb publication page

---

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: FAT1: 3803G>A; Arg1268Gln

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

---

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: FAT1: R1268Q; rs113970444

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

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: FAT1: R1268Q; rs113970444

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Molecular Autism

Cukier, Holly N HN; Dueker, Nicole D ND; Slifer, Susan H SH; Lee, Joycelyn M JM; Whitehead, Patrice L PL; Lalanne, Eminisha E; Leyva, Natalia N; Konidari, Ioanna I; Gentry, Ryan C RC; Hulme, William F WF; Booven, Derek Van DV; Mayo, Vera V; Hofmann, Natalia K NK; Schmidt, Michael A MA; Martin, Eden R ER; Haines, Jonathan L JL; Cuccaro, Michael L ML; Gilbert, John R JR; Pericak-Vance, Margaret A MA

Publication Date: 2014-01-10

Variant appearance in text: FAT1: Arg1268Gln; rs113970444

PubMed Link: 24410847

Variant Present in the following documents:

• Main text
• 2040-2392-5-1.pdf

View BVdb publication page

---

Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.

Nature Genetics

Morris, Luc G T LG; Kaufman, Andrew M AM; Gong, Yongxing Y; Ramaswami, Deepa D; Walsh, Logan A LA; Turcan, Şevin Ş; Eng, Stephanie S; Kannan, Kasthuri K; Zou, Yilong Y; Peng, Luke L; Banuchi, Victoria E VE; Paty, Phillip P; Zeng, Zhaoshi Z; Vakiani, Efsevia E; Solit, David D; Singh, Bhuvanesh B; Ganly, Ian I; Liau, Linda L; Cloughesy, Timothy C TC; Mischel, Paul S PS; Mellinghoff, Ingo K IK; Chan, Timothy A TA

Publication Date: 2013-03

Variant appearance in text: FAT1: Arg1268Gln; rs113970444

PubMed Link: 23354438

Variant Present in the following documents:

• Main text
• nihms474885.pdf
• NIHMS474885-supplement-1.pdf

View BVdb publication page

---