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: rs4938016

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs4938016

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A Systematic Review of Genetic Polymorphisms Associated with Binge Eating Disorder.

Nutrients

Manfredi, Lucia L; Accoto, Alessandra A; Couyoumdjian, Alessandro A; Conversi, David D

Publication Date: 2021-03-05

Variant appearance in text: rs4938016

PubMed Link: 33807560

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic basis of inter-individual variation in recovery from traumatic brain injury.

Npj Regenerative Medicine

Cortes, Daniel D; Pera, Martin F MF

Publication Date: 2021-01-21

Variant appearance in text: rs4938016

PubMed Link: 33479258

Variant Present in the following documents:

• 41536_2020_114_MOESM1_ESM.pdf

View BVdb publication page

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Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications

Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H

Publication Date: 2020-04-24

Variant appearance in text: rs4938016

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4938016

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4938016

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4938016

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic Influences on Patient-Oriented Outcomes in Traumatic Brain Injury: A Living Systematic Review of Non-Apolipoprotein E Single-Nucleotide Polymorphisms.

Journal Of Neurotrauma

Zeiler, Frederick A FA; McFadyen, Charles C; Newcombe, Virginia F J VFJ; Synnot, Anneliese A; Donoghue, Emma L EL; Ripatti, Samuli S; Steyerberg, Ewout W EW; Gruen, Russel L RL; McAllister, Thomas W TW; Rosand, Jonathan J; Palotie, Aarno A; Maas, Andrew I R AIR; Menon, David K DK

Publication Date: 2021-04-15

Variant appearance in text: rs4938016

PubMed Link: 29799308

Variant Present in the following documents:

• Main text
• neu.2017.5583.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4938016

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Uncovering precision phenotype-biomarker associations in traumatic brain injury using topological data analysis.

Plos One

Nielson, Jessica L JL; Cooper, Shelly R SR; Yue, John K JK; Sorani, Marco D MD; Inoue, Tomoo T; Yuh, Esther L EL; Mukherjee, Pratik P; Petrossian, Tanya C TC; Paquette, Jesse J; Lum, Pek Y PY; Carlsson, Gunnar E GE; Vassar, Mary J MJ; Lingsma, Hester F HF; Gordon, Wayne A WA; Valadka, Alex B AB; Okonkwo, David O DO; Manley, Geoffrey T GT; Ferguson, Adam R AR; ,

Publication Date: 2017

Variant appearance in text: rs4938016

PubMed Link: 28257413

Variant Present in the following documents:

• Main text
• pone.0169490.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4938016

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: ANKK1: G442C; rs4938016

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs4938016

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Genetics and outcomes after traumatic brain injury (TBI): what do we know about pediatric TBI?

Journal Of Pediatric Rehabilitation Medicine

Kurowski, Brad B; Martin, Lisa J LJ; Wade, Shari L SL

Publication Date: 2012

Variant appearance in text: rs4938016

PubMed Link: 23023254

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotypic variants in DRD2, ANKK1, TTC12, and NCAM1 are associated with comorbid alcohol and drug dependence.

Alcoholism, Clinical And Experimental Research

Yang, Bao-Zhu BZ; Kranzler, Henry R HR; Zhao, Hongyu H; Gruen, Jeffrey R JR; Luo, Xingguang X; Gelernter, Joel J

Publication Date: 2008-12

Variant appearance in text: rs4938016

PubMed Link: 18828801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single nucleotide polymorphisms in ANKK1 and the dopamine D2 receptor gene affect cognitive outcome shortly after traumatic brain injury: a replication and extension study.

Brain Injury

McAllister, Thomas W TW; Flashman, Laura A LA; Harker Rhodes, C C; Tyler, Anna L AL; Moore, Jason H JH; Saykin, Andrew J AJ; McDonald, Brenna C BC; Tosteson, Tor D TD; Tsongalis, Gregory J GJ

Publication Date: 2008-08

Variant appearance in text: rs4938016

PubMed Link: 18698520

Variant Present in the following documents:

• Main text

View BVdb publication page

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