Publications:

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PIKFYVE: 2551C>T; R851*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: PIKFYVE: 2551C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: PIKFYVE: 2551C>T; Arg851*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Molecular Vision

Gee, Jessica A JA; Frausto, Ricardo F RF; Chung, Duk-Won D DW; Tangmonkongvoragul, Chulaluck C; Le, Derek J DJ; Wang, Cynthia C; Han, Jonathan J; Aldave, Anthony J AJ

Publication Date: 2015

Variant appearance in text: PIKFYVE: 2551C>T; Arg851*

PubMed Link: 26396486

Variant Present in the following documents:

• Main text
• mv-v21-1093.pdf

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A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Molecular Vision

Kawasaki, Satoshi S; Yamasaki, Kenta K; Nakagawa, Hiroko H; Shinomiya, Katsuhiko K; Nakatsukasa, Mina M; Nakai, Yoshihide Y; Kinoshita, Shigeru S

Publication Date: 2012

Variant appearance in text: PIKFYVE: 2551C>T; R851X

PubMed Link: 23288988

Variant Present in the following documents:

• Main text
• mv-v18-2954.pdf

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: PIP5K3: 2551C>T

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

American Journal Of Human Genetics

Li, Shouling S; Tiab, Leila L; Jiao, Xiaodong X; Munier, Francis L FL; Zografos, Leonidas L; Frueh, Béatrice E BE; Sergeev, Yuri Y; Smith, Janine J; Rubin, Benjamin B; Meallet, Mario A MA; Forster, Richard K RK; Hejtmancik, J Fielding JF; Schorderet, Daniel F DF

Publication Date: 2005-07

Variant appearance in text: PIP5K3: R851X

PubMed Link: 15902656

Variant Present in the following documents:

• Main text

View BVdb publication page

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