Publications:

---

PICALM and Alzheimer's Disease: An Update and Perspectives.

Cells

Ando, Kunie K; Nagaraj, Siranjeevi S; Küçükali, Fahri F; de Fisenne, Marie-Ange MA; Kosa, Andreea-Claudia AC; Doeraene, Emilie E; Lopez Gutierrez, Lidia L; Brion, Jean-Pierre JP; Leroy, Karelle K

Publication Date: 2022-12-10

Variant appearance in text: rs117411388

PubMed Link: 36552756

Variant Present in the following documents:

• Main text
• cells-11-03994.pdf

View BVdb publication page

---

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: PICALM: H465R; rs117411388

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PICALM: H465R; rs117411388

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

---

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Annals Of Neurology

Vardarajan, Badri N BN; Ghani, Mahdi M; Kahn, Amanda A; Sheikh, Stephanie S; Sato, Christine C; Barral, Sandra S; Lee, Joseph H JH; Cheng, Rong R; Reitz, Christiane C; Lantigua, Rafael R; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Mayeux, Richard R

Publication Date: 2015-09

Variant appearance in text: rs117411388

PubMed Link: 26101835

Variant Present in the following documents:

• Main text
• ANA-78-487.pdf

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: PICALM: H465R; rs117411388

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

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: rs117411388

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

---