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: rs2291738

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs2291738

PubMed Link: 36241656

Variant Present in the following documents:

• 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: rs2291738

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Chronotype, circadian rhythm, and psychiatric disorders: Recent evidence and potential mechanisms.

Frontiers In Neuroscience

Zou, Haowen H; Zhou, Hongliang H; Yan, Rui R; Yao, Zhijian Z; Lu, Qing Q

Publication Date: 2022

Variant appearance in text: rs2291738

PubMed Link: 36033630

Variant Present in the following documents:

• Main text
• fnins-16-811771.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: TIMELESS: 2726-4A>G; rs2291738

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2291738

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: TIMELESS: 2726-4A>G; rs2291738

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Investigation of gene-gene interactions of clock genes for chronotype in a healthy Korean population.

Genomics & Informatics

Park, Mira M; Kim, Soon Ae SA; Shin, Jieun J; Joo, Eun-Jeong EJ

Publication Date: 2020-12

Variant appearance in text: rs2291738

PubMed Link: 33412754

Variant Present in the following documents:

• Main text
• gi-2020-18-4-e38.pdf

View BVdb publication page

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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: rs2291738

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders.

Molecular Neuropsychiatry

Melhuish Beaupre, Lindsay M LM; Gonçalves, Vanessa F VF; Zai, Clement C CC; Tiwari, Arun K AK; Harripaul, Ricardo S RS; Herbert, Deanna D; Freeman, Natalie N; Müller, Daniel J DJ; Kennedy, James L JL

Publication Date: 2020-04

Variant appearance in text: rs2291738

PubMed Link: 32399468

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility.

International Journal Of Molecular Sciences

Lesicka, Monika M; Jabłońska, Ewa E; Wieczorek, Edyta E; Pepłońska, Beata B; Gromadzińska, Jolanta J; Seroczyńska, Barbara B; Kalinowski, Leszek L; Skokowski, Jarosław J; Reszka, Edyta E

Publication Date: 2019-11-14

Variant appearance in text: rs2291738

PubMed Link: 31739444

Variant Present in the following documents:

• Main text
• ijms-20-05704.pdf

View BVdb publication page

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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: rs2291738

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Sleep Disturbance in Bipolar Disorder: Neuroglia and Circadian Rhythms.

Frontiers In Psychiatry

Steardo, Luca L; de Filippis, Renato R; Carbone, Elvira Anna EA; Segura-Garcia, Cristina C; Verkhratsky, Alexei A; De Fazio, Pasquale P

Publication Date: 2019

Variant appearance in text: rs2291738

PubMed Link: 31379620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Night-shift work, circadian and melatonin pathway related genes and their interaction on breast cancer risk: evidence from a case-control study in Korean women.

Scientific Reports

Pham, Thu-Thi TT; Lee, Eun-Sook ES; Kong, Sun-Young SY; Kim, Jeongseon J; Kim, Sun-Young SY; Joo, Jungnam J; Yoon, Kyong-Ah KA; Park, Boyoung B

Publication Date: 2019-07-29

Variant appearance in text: rs2291738

PubMed Link: 31358835

Variant Present in the following documents:

• Main text
• 41598_2019_Article_47480.pdf

View BVdb publication page

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An Overview of the Polymorphisms of Circadian Genes Associated With Endocrine Cancer.

Frontiers In Endocrinology

Morales-Santana, Sonia S; Morell, Santiago S; Leon, Josefa J; Carazo-Gallego, Angel A; Jimenez-Lopez, Jose C JC; Morell, María M

Publication Date: 2019

Variant appearance in text: rs2291738

PubMed Link: 30873119

Variant Present in the following documents:

• Main text
• fendo-10-00104.pdf

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: TIMELESS: 2726-4A>G; rs2291738

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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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TIMELESS: 2726-4A>G; rs2291738

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.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: rs2291738

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: rs2291738

PubMed Link: 27313610

Variant Present in the following documents:

• Main text
• IJE2016-2746909.pdf

View BVdb publication page

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Glucose-Raising Polymorphisms in the Human Clock Gene Cryptochrome 2 (CRY2) Affect Hepatic Lipid Content.

Plos One

Machicao, Fausto F; Peter, Andreas A; Machann, Jürgen J; Königsrainer, Ingmar I; Böhm, Anja A; Lutz, Stefan Zoltan SZ; Heni, Martin M; Fritsche, Andreas A; Schick, Fritz F; Königsrainer, Alfred A; Stefan, Norbert N; Häring, Hans-Ulrich HU; Staiger, Harald H

Publication Date: 2016

Variant appearance in text: rs2291738

PubMed Link: 26726810

Variant Present in the following documents:

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2291738

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Personalized medicine in psychiatry: problems and promises.

Bmc Medicine

Ozomaro, Uzoezi U; Wahlestedt, Claes C; Nemeroff, Charles B CB

Publication Date: 2013-05-16

Variant appearance in text: TIMELESS: 2726-4A>G; rs2291738

PubMed Link: 23680237

Variant Present in the following documents:

• Main text
• 1741-7015-11-132.pdf

View BVdb publication page

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Shared genetic background for regulation of mood and sleep: association of GRIA3 with sleep duration in healthy Finnish women.

Sleep

Utge, Siddheshwar S; Kronholm, Erkki E; Partonen, Timo T; Soronen, Pia P; Ollila, Hanna M HM; Loukola, Anu A; Perola, Markus M; Salomaa, Veikko V; Porkka-Heiskanen, Tarja T; Paunio, Tiina T

Publication Date: 2011-10-01

Variant appearance in text: rs2291738

PubMed Link: 21966062

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.

Plos One

Wang, Hongjie H; Jin, Yulan Y; Reddy, M V Prasad Linga MV; Podolsky, Robert R; Liu, Siyang S; Yang, Ping P; Bode, Bruce B; Reed, John Chip JC; Steed, R Dennis RD; Anderson, Stephen W SW; Steed, Leigh L; Hopkins, Diane D; Huang, Yihua Y; She, Jin-Xiong JX

Publication Date: 2010-07-26

Variant appearance in text: rs2291738

PubMed Link: 20668683

Variant Present in the following documents:

• Main text
• pone.0011789.pdf

View BVdb publication page

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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: rs2291738

PubMed Link: 20180986

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2291738

PubMed Link: 20174623

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2291738

PubMed Link: 19470168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circadian polymorphisms associated with affective disorders.

Journal Of Circadian Rhythms

Kripke, Daniel F DF; Nievergelt, Caroline M CM; Joo, Ej E; Shekhtman, Tatyana T; Kelsoe, John R JR

Publication Date: 2009-01-23

Variant appearance in text: rs2291738

PubMed Link: 19166596

Variant Present in the following documents:

• Main text
• 1740-3391-7-2.pdf

View BVdb publication page

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