Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2291739

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.

The Journal Of Clinical Endocrinology And Metabolism

Piaggi, Paolo P; Köroğlu, Çiğdem Ç; Nair, Anup K AK; Sutherland, Jeff J; Muller, Yunhua L YL; Kumar, Pankaj P; Hsueh, Wen-Chi WC; Kobes, Sayuko S; Shuldiner, Alan R AR; Kim, Hye In HI; Gosalia, Nehal N; Van Hout, Cristopher V CV; Jones, Marcus M; Knowler, William C WC; Krakoff, Jonathan J; Hanson, Robert L RL; Bogardus, Clifton C; Baier, Leslie J LJ

Publication Date: 2020-11-01

Variant appearance in text: rs2291739

PubMed Link: 32818236

Variant Present in the following documents:

• Main text

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Chronobiology Revisited in Psychiatric Disorders: From a Translational Perspective.

Psychiatry Investigation

Kirlioglu, Simge Seren SS; Balcioglu, Yasin Hasan YH

Publication Date: 2020-08

Variant appearance in text: rs2291739

PubMed Link: 32750762

Variant Present in the following documents:

• Main text
• pi-2020-0129.pdf

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: rs2291739

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
• 41467_2020_16399_MOESM5_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: rs2291739

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs2291739

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Evidences of Polymorphism Associated with Circadian System and Risk of Pathologies: A Review of the Literature.

International Journal Of Endocrinology

Valenzuela, F J FJ; Vera, J J; Venegas, C C; Muñoz, S S; Oyarce, S S; Muñoz, K K; Lagunas, C C

Publication Date: 2016

Variant appearance in text: rs2291739

PubMed Link: 27313610

Variant Present in the following documents:

• Main text
• IJE2016-2746909.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: rs2291739

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs2291739

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningness-eveningness preference and circadian rhythm sleep disorder.

Scientific Reports

Hida, Akiko A; Kitamura, Shingo S; Katayose, Yasuko Y; Kato, Mie M; Ono, Hiroko H; Kadotani, Hiroshi H; Uchiyama, Makoto M; Ebisawa, Takashi T; Inoue, Yuichi Y; Kamei, Yuichi Y; Okawa, Masako M; Takahashi, Kiyohisa K; Mishima, Kazuo K

Publication Date: 2014-09-09

Variant appearance in text: rs2291739

PubMed Link: 25201053

Variant Present in the following documents:

• Main text
• srep06309.pdf

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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: rs2291739

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.

Journal Of Circadian Rhythms

Sjöholm, Louise K LK; Kovanen, Leena L; Saarikoski, Sirkku T ST; Schalling, Martin M; Lavebratt, Catharina C; Partonen, Timo T

Publication Date: 2010-01-21

Variant appearance in text: rs2291739

PubMed Link: 20180986

Variant Present in the following documents:

• Main text

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Systematic analysis of circadian genes in a population-based sample reveals association of TIMELESS with depression and sleep disturbance.

Plos One

Utge, Siddheshwar J SJ; Soronen, Pia P; Loukola, Anu A; Kronholm, Erkki E; Ollila, Hanna M HM; Pirkola, Sami S; Porkka-Heiskanen, Tarja T; Partonen, Timo T; Paunio, Tiina T

Publication Date: 2010-02-18

Variant appearance in text: rs2291739

PubMed Link: 20174623

Variant Present in the following documents:

• Main text

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Testing the circadian gene hypothesis in prostate cancer: a population-based case-control study.

Cancer Research

Zhu, Yong Y; Stevens, Richard G RG; Hoffman, Aaron E AE; Fitzgerald, Liesel M LM; Kwon, Erika M EM; Ostrander, Elaine A EA; Davis, Scott S; Zheng, Tongzhang T; Stanford, Janet L JL

Publication Date: 2009-12-15

Variant appearance in text: rs2291739

PubMed Link: 19934327

Variant Present in the following documents:

• Main text

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NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.

Journal Of Circadian Rhythms

Englund, Ani A; Kovanen, Leena L; Saarikoski, Sirkku T ST; Haukka, Jari J; Reunanen, Antti A; Aromaa, Arpo A; Lönnqvist, Jouko J; Partonen, Timo T

Publication Date: 2009-05-26

Variant appearance in text: rs2291739

PubMed Link: 19470168

Variant Present in the following documents:

• Main text
• 1740-3391-7-5.pdf

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