Publications:

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs11073964

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

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Genetic Analysis of Coronary Artery Disease Using Tree-Based Automated Machine Learning Informed By Biology-Based Feature Selection.

Ieee/Acm Transactions On Computational Biology And Bioinformatics

Manduchi, Elisabetta E; Le, Trang T TT; Fu, Weixuan W; Moore, Jason H JH

Publication Date: 2022

Variant appearance in text: rs11073964

PubMed Link: 34310318

Variant Present in the following documents:

• nihms-1813117.pdf

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Identification of novel functional CpG-SNPs associated with Type 2 diabetes and birth weight.

Aging

Liu, Rui-Ke RK; Lin, Xu X; Wang, Zun Z; Greenbaum, Jonathan J; Qiu, Chuan C; Zeng, Chun-Ping CP; Zhu, Yong-Yao YY; Shen, Jie J; Deng, Hong-Wen HW

Publication Date: 2021-04-04

Variant appearance in text: rs11073964

PubMed Link: 33835050

Variant Present in the following documents:

• Main text
• aging-13-202828.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: rs11073964

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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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: rs11073964

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction.

Scientific Reports

Wu, Yiming Y; Jing, Runyu R; Dong, Yongcheng Y; Kuang, Qifan Q; Li, Yan Y; Huang, Ziyan Z; Gan, Wei W; Xue, Yue Y; Li, Yizhou Y; Li, Menglong M

Publication Date: 2017-03-06

Variant appearance in text: rs11073964

PubMed Link: 28262806

Variant Present in the following documents:

• Main text

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Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.

Experimental And Therapeutic Medicine

Deng, Mei M; Mao, Man M; Guo, Li L; Chen, Feng-Ping FP; Wen, Wang-Rong WR; Song, Yuan-Zong YZ

Publication Date: 2016-11

Variant appearance in text: rs11073964

PubMed Link: 27882152

Variant Present in the following documents:

• Main text
• etm-12-05-3294.pdf

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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: rs11073964

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs11073964

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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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: rs11073964

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Human Mutation

Cullinane, Andrew R AR; Straatman-Iwanowska, Anna A; Seo, Jeong K JK; Ko, Jae S JS; Song, Kyung S KS; Gizewska, Maria M; Gruszfeld, Dariusz D; Gliwicz, Dorota D; Tuysuz, Beyhan B; Erdemir, Gulin G; Sougrat, Rachid R; Wakabayashi, Yoshiyuki Y; Hinds, Rupert R; Barnicoat, Angela A; Mandel, Hanna H; Chitayat, David D; Fischler, Björn B; Garcia-Cazorla, Angels A; Knisely, A S AS; Kelly, Deirdre A DA; Maher, Eamonn R ER; Gissen, Paul P

Publication Date: 2009-02

Variant appearance in text: rs11073964

PubMed Link: 18853461

Variant Present in the following documents:

• Main text

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