Publications:

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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Frontiers In Genetics

Walczak-Sztulpa, Joanna J; Wawrocka, Anna A; Doornbos, Cenna C; van Beek, Ronald R; Sowińska-Seidler, Anna A; Jamsheer, Aleksander A; Bukowska-Olech, Ewelina E; Latos-Bieleńska, Anna A; Grenda, Ryszard R; Bongers, Ernie M H F EMHF; Schmidts, Miriam M; Obersztyn, Ewa E; Krawczyński, Maciej R MR; Oud, Machteld M MM

Publication Date: 2022

Variant appearance in text: INTU: 1354G>A; Ala452Thr

PubMed Link: 35873489

Variant Present in the following documents:

• Main text
• fgene-13-931822.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: INTU: 1354G>A; A452T; rs150681845

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: INTU: 1354G>A; A452T; rs150681845

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs150681845

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Scientific Reports

Tsukamoto, Taku T; Nakano, Masakazu M; Sato, Ryuichi R; Adachi, Hiroko H; Kiyota, Miki M; Kawata, Eri E; Uoshima, Nobuhiko N; Yasukawa, Satoru S; Chinen, Yoshiaki Y; Mizutani, Shinsuke S; Shimura, Yuji Y; Kobayashi, Tsutomu T; Horiike, Shigeo S; Yanagisawa, Akio A; Taniwaki, Masafumi M; Tashiro, Kei K; Kuroda, Junya J

Publication Date: 2017-10-25

Variant appearance in text: INTU: Ala452Thr

PubMed Link: 29070849

Variant Present in the following documents:

• 41598_2017_14150_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Nature Genetics

Toriyama, Michinori M; Lee, Chanjae C; Taylor, S Paige SP; Duran, Ivan I; Cohn, Daniel H DH; Bruel, Ange-Line AL; Tabler, Jacqueline M JM; Drew, Kevin K; Kelly, Marcus R MR; Kim, Sukyoung S; Park, Tae Joo TJ; Braun, Daniela A DA; Pierquin, Ghislaine G; Biver, Armand A; Wagner, Kerstin K; Malfroot, Anne A; Panigrahi, Inusha I; Franco, Brunella B; Al-Lami, Hadeel Adel HA; Yeung, Yvonne Y; Choi, Yeon Ja YJ; , ; Duffourd, Yannis Y; Faivre, Laurence L; Rivière, Jean-Baptiste JB; Chen, Jiang J; Liu, Karen J KJ; Marcotte, Edward M EM; Hildebrandt, Friedhelm F; Thauvin-Robinet, Christel C; Krakow, Deborah D; Jackson, Peter K PK; Wallingford, John B JB

Publication Date: 2016-06

Variant appearance in text: INTU: Ala452Thr

PubMed Link: 27158779

Variant Present in the following documents:

• Main text
• nihms-774703.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: INTU: A452T; rs150681845

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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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: INTU: A452T; rs150681845

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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