Publications:

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Nature Genetics

Kousi, Maria M; Söylemez, Onuralp O; Ozanturk, Aysegül A; Mourtzi, Niki N; Akle, Sebastian S; Jungreis, Irwin I; Muller, Jean J; Cassa, Christopher A CA; Brand, Harrison H; Mokry, Jill Anne JA; Wolf, Maxim Y MY; Sadeghpour, Azita A; McFadden, Kelsey K; Lewis, Richard A RA; Talkowski, Michael E ME; Dollfus, Hélène H; Kellis, Manolis M; Davis, Erica E EE; Sunyaev, Shamil R SR; Katsanis, Nicholas N

Publication Date: 2020-11

Variant appearance in text: NPHP1: Ile45Leu

PubMed Link: 33046855

Variant Present in the following documents:

• Main text

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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: NPHP1: I45L; rs145479679

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

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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: NPHP1: 133A>C; Ile45Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.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: NPHP1: Ile45Leu; rs145479679

PubMed Link: 23555315

Variant Present in the following documents:

• Main text
• pgen.1003419.pdf

View BVdb publication page