Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs746203

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies.

Frontiers In Pharmacology

Tsermpini, Evangelia Eirini EE; Redenšek, Sara S; Dolžan, Vita V

Publication Date: 2021

Variant appearance in text: rs746203

PubMed Link: 35140610

Variant Present in the following documents:

• Main text
• fphar-12-834129.pdf

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Association of PIP4K2A Polymorphisms with Alcohol Use Disorder.

Genes

Fedorenko, Olga Yu OY; Mikhalitskaya, Ekaterina V EV; Toshchakova, Valentina A VA; Loonen, Anton J M AJM; Bokhan, Nikolay A NA; Ivanova, Svetlana A SA

Publication Date: 2021-10-19

Variant appearance in text: rs746203

PubMed Link: 34681036

Variant Present in the following documents:

• Main text
• genes-12-01642.pdf

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Genetic polymorphisms of PIP5K2A and course of schizophrenia.

Bmc Medical Genetics

Poltavskaya, Evgeniya G EG; Fedorenko, Olga Yu OY; Vyalova, Natalya M NM; Kornetova, Elena G EG; Bokhan, Nikolay A NA; Loonen, Anton J M AJM; Ivanova, Svetlana A SA

Publication Date: 2020-10-22

Variant appearance in text: rs746203

PubMed Link: 33092542

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1107.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PIP4K2A: 1036+192G>A; rs746203

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

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BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia.

International Journal Of Cancer

de Smith, Adam J AJ; Walsh, Kyle M KM; Francis, Stephen S SS; Zhang, Chenan C; Hansen, Helen M HM; Smirnov, Ivan I; Morimoto, Libby L; Whitehead, Todd P TP; Kang, Alice A; Shao, Xiaorong X; Barcellos, Lisa F LF; McKean-Cowdin, Roberta R; Zhang, Luoping L; Fu, Cecilia C; Wang, Rong R; Yu, Herbert H; Hoh, Josephine J; Dewan, Andrew T AT; Metayer, Catherine C; Ma, Xiaomei X; Wiemels, Joseph L JL

Publication Date: 2018-12-01

Variant appearance in text: rs746203

PubMed Link: 29923177

Variant Present in the following documents:

• Main text

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Association study indicates a protective role of phosphatidylinositol-4-phosphate-5-kinase against tardive dyskinesia.

The International Journal Of Neuropsychopharmacology

Fedorenko, Olga Yu OY; Loonen, Anton J M AJ; Lang, Florian F; Toshchakova, Valentina A VA; Boyarko, Evgenia G EG; Semke, Arkadiy V AV; Bokhan, Nikolay A NA; Govorin, Nikolay V NV; Aftanas, Lyubomir I LI; Ivanova, Svetlana A SA

Publication Date: 2014-12-28

Variant appearance in text: rs746203

PubMed Link: 25548108

Variant Present in the following documents:

• Main text
• pyu098.pdf

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Genetic variations of PIP4K2A confer vulnerability to poor antipsychotic response in severely ill schizophrenia patients.

Plos One

Kaur, Harpreet H; Jajodia, Ajay A; Grover, Sandeep S; Baghel, Ruchi R; Gupta, Meenal M; Jain, Sanjeev S; Kukreti, Ritushree R

Publication Date: 2014

Variant appearance in text: rs746203

PubMed Link: 25025909

Variant Present in the following documents:

• Main text
• pone.0102556.pdf

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Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case-control study of schizophrenia (ICCSS).

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Thiselton, D L DL; Maher, B S BS; Webb, B T BT; Bigdeli, T B TB; O'Neill, F A FA; Walsh, D D; Kendler, K S KS; Riley, B P BP

Publication Date: 2010-01-05

Variant appearance in text: rs746203

PubMed Link: 19475563

Variant Present in the following documents:

• Main text

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