Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: LRP2: 8614G>T; Ala2872Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Association of Vitamin D and Its Pathway Genes' Polymorphisms with Hypertensive Disorders of Pregnancy: A Prospective Cohort Study.

Nutrients

Si, Shuting S; Mo, Minjia M; Cheng, Haoyue H; Peng, Zhicheng Z; Alifu, Xialidan X; Zhou, Haibo H; Chi, Peihan P; Zhuang, Yan Y; Yu, Yunxian Y

Publication Date: 2022-06-06

Variant appearance in text: rs2228171

PubMed Link: 35684156

Variant Present in the following documents:

• Main text
• nutrients-14-02355.pdf

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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: rs2228171

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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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs2228171

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

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Mechanisms of Cisplatin-Induced Ototoxicity and Prevention.

Seminars In Hearing

Rybak, Leonard P LP; Mukherjea, Debashree D; Ramkumar, Vickram V

Publication Date: 2019-05

Variant appearance in text: rs2228171

PubMed Link: 31036996

Variant Present in the following documents:

• Main text

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Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology

Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S

Publication Date: 2019-04

Variant appearance in text: rs2228171

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vitamin D Metabolism-Related Gene Haplotypes and Their Association with Metabolic Disturbances Among African-American Urban Adults.

Scientific Reports

Beydoun, May A MA; Hossain, Sharmin S; Tajuddin, Salman M SM; Canas, Jose A JA; Kuczmarski, Marie M; Beydoun, Hind A HA; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2018-05-23

Variant appearance in text: rs2228171

PubMed Link: 29795187

Variant Present in the following documents:

• Main text
• 41598_2018_26230_MOESM1_ESM.pdf
• 41598_2018_Article_26230.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: rs2228171

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Vitamin D Receptor and Megalin Gene Polymorphisms Are Associated with Longitudinal Cognitive Change among African-American Urban Adults.

The Journal Of Nutrition

Beydoun, May A MA; Tajuddin, Salman M SM; Dore, Greg A GA; Canas, Jose-Atilio JA; Beydoun, Hind A HA; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2017-06

Variant appearance in text: rs2228171

PubMed Link: 28446629

Variant Present in the following documents:

• Main text

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: rs2228171

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Sequencing of LRP2 reveals multiple rare variants associated with urinary trefoil factor-3.

Journal Of The American Society Of Nephrology : Jasn

McMahon, Gearoid M GM; Olden, Matthias M; Garnaas, Maija M; Yang, Qiong Q; Liu, Xuan X; Hwang, Shih-Jen SJ; Larson, Martin G MG; , ; Goessling, Wolfram W; Fox, Caroline S CS

Publication Date: 2014-12

Variant appearance in text: rs2228171

PubMed Link: 24876117

Variant Present in the following documents:

• Main text

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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: rs2228171

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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