Publications:

---

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.

Scientific Reports

Khaled, Mariam Lofty ML; Bykhovskaya, Yelena Y; Gu, Chunfang C; Liu, Alice A; Drewry, Michelle D MD; Chen, Zhong Z; Mysona, Barbara A BA; Parker, Emily E; McNabb, Ryan P RP; Yu, Hongfang H; Lu, Xiaowen X; Wang, Jing J; Li, Xiaohui X; Al-Muammar, Abdulrahman A; Rotter, Jerome I JI; Porter, Louise F LF; Estes, Amy A; Watsky, Mitchell A MA; Smith, Sylvia B SB; Xu, Hongyan H; Abu-Amero, Khaled K KK; Kuo, Anthony A; Shears, Stephen B SB; Rabinowitz, Yaron S YS; Liu, Yutao Y

Publication Date: 2019-12-18

Variant appearance in text: PPIP5K2: S419A; rs35671301

PubMed Link: 31852976

Variant Present in the following documents:

• Main text
• 41598_2019_Article_55866.pdf

View BVdb publication page

---

Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.

Human Genetics

Chapman, N H NH; Bernier, R A RA; Webb, S J SJ; Munson, J J; Blue, E M EM; Chen, D-H DH; Heigham, E E; Raskind, W H WH; Wijsman, Ellen M EM

Publication Date: 2018-10

Variant appearance in text: rs35671301

PubMed Link: 30276537

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

Plos Genetics

Yousaf, Rizwan R; Gu, Chunfang C; Ahmed, Zubair M ZM; Khan, Shaheen N SN; Friedman, Thomas B TB; Riazuddin, Sheikh S; Shears, Stephen B SB; Riazuddin, Saima S

Publication Date: 2018-03

Variant appearance in text: PPIP5K2: Ser419Ala; rs35671301

PubMed Link: 29590114

Variant Present in the following documents:

• Main text
• pgen.1007297.pdf

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: PPIP5K2: S419A; rs35671301

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

---

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PPIP5K2: 1255T>G; S419A; rs35671301

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, 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: PPIP5K2: S419A; rs35671301

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.

Human Genetics

Chapman, Nicola H NH; Nato, Alejandro Q AQ; Bernier, Raphael R; Ankenman, Katy K; Sohi, Harkirat H; Munson, Jeff J; Patowary, Ashok A; Archer, Marilyn M; Blue, Elizabeth M EM; Webb, Sara Jane SJ; Coon, Hilary H; Raskind, Wendy H WH; Brkanac, Zoran Z; Wijsman, Ellen M EM

Publication Date: 2015-10

Variant appearance in text: rs35671301

PubMed Link: 26204995

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Jama Neurology

Auer, Paul L PL; Nalls, Mike M; Meschia, James F JF; Worrall, Bradford B BB; Longstreth, W T WT; Seshadri, Sudha S; Kooperberg, Charles C; Burger, Kathleen M KM; Carlson, Christopher S CS; Carty, Cara L CL; Chen, Wei-Min WM; Cupples, L Adrienne LA; DeStefano, Anita L AL; Fornage, Myriam M; Hardy, John J; Hsu, Li L; Jackson, Rebecca D RD; Jarvik, Gail P GP; Kim, Daniel S DS; Lakshminarayan, Kamakshi K; Lange, Leslie A LA; Manichaikul, Ani A; Quinlan, Aaron R AR; Singleton, Andrew B AB; Thornton, Timothy A TA; Nickerson, Deborah A DA; Peters, Ulrike U; Rich, Stephen S SS; ,

Publication Date: 2015-07

Variant appearance in text: rs35671301

PubMed Link: 25961151

Variant Present in the following documents:

• Main text

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: PPIP5K2: S419A; rs35671301

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: PPIP5K2: S419A; rs35671301

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20

View BVdb publication page

---