Publications:

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Meta-data analysis of kidney stone disease highlights ATP1A1 involvement in renal crystal formation.

Redox Biology

Li, Yang Y; Lu, Xiuli X; Yu, Zhihao Z; Wang, Haozhen H; Gao, Bing B

Publication Date: 2023-02-27

Variant appearance in text: rs1056008

PubMed Link: 36871182

Variant Present in the following documents:

• Main text
• main.pdf

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Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases.

Scientific Reports

Liu, Chunyu C; Joehanes, Roby R; Ma, Jiantao J; Wang, Yuxuan Y; Sun, Xianbang X; Keshawarz, Amena A; Sooda, Meera M; Huan, Tianxiao T; Hwang, Shih-Jen SJ; Bui, Helena H; Tejada, Brandon B; Munson, Peter J PJ; Demirkale, Cumhur Y CY; Heard-Costa, Nancy L NL; Pitsillides, Achilleas N AN; Peloso, Gina M GM; Feolo, Michael M; Sharopova, Nataliya N; Vasan, Ramachandran S RS; Levy, Daniel D

Publication Date: 2022-11-23

Variant appearance in text: rs1056008

PubMed Link: 36424512

Variant Present in the following documents:

• Main text
• 41598_2022_Article_24611.pdf

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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: B4GALNT3: P583P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

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Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases.

Research Square

Liu, Chunyu C; Joehanes, Roby R; Ma, Jiantao J; Wang, Yuxuan Y; Sun, Xianbang X; Keshawarz, Amena A; Sooda, Meera M; Huan, Tianxiao T; Hwang, Shih-Jen SJ; Bui, Helena H; Tejada, Brandon B; Munson, Peter J PJ; Cumhur, Demirkale D; Heard-Costa, Nancy L NL; Pitsillides, Achilleas N AN; Peloso, Gina M GM; Feolo, Michael M; Sharopova, Nataliya N; Vasan, Ramachandran S RS; Levy, Daniel D

Publication Date: 2022-05-31

Variant appearance in text: rs1056008

PubMed Link: 35664994

Variant Present in the following documents:

• nihpp-rs1598646v1.pdf

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Circulating α-Klotho Levels in Relation to Cardiovascular Diseases: A Mendelian Randomization Study.

Frontiers In Endocrinology

Sun, Xingang X; Chen, Lu L; He, Yuxian Y; Zheng, Liangrong L

Publication Date: 2022

Variant appearance in text: rs1056008

PubMed Link: 35197934

Variant Present in the following documents:

• Main text
• fendo-13-842846.pdf

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GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.

Human Molecular Genetics

Gergei, Ingrid I; Zheng, Jie J; Andlauer, Till F M TFM; Brandenburg, Vincent V; Mirza-Schreiber, Nazanin N; Müller-Myhsok, Bertram B; Krämer, Bernhard K BK; Richard, Daniel D; Falk, Louise L; Movérare-Skrtic, Sofia S; Ohlsson, Claes C; Davey Smith, George G; März, Winfried W; Voelkl, Jakob J; Tobias, Jonathan H JH

Publication Date: 2022-03-03

Variant appearance in text: rs1056008

PubMed Link: 34542150

Variant Present in the following documents:

• Main text
• ddab263.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: N/A

PubMed Link: 33420045

Variant Present in the following documents:

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: N/A

PubMed Link: 32529721

Variant Present in the following documents:

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31597922

Variant Present in the following documents:

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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