Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: SLC6A4: G56A

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits.

Psychiatric Genetics

Castellini, Giovanni G; Merola, Giuseppe Pierpaolo GP; Baccaredda, Ottone Boy OB; Pecoraro, Vincenzo V; Bozza, Bernardo B; Cassioli, Emanuele E; Rossi, Eleonora E; Bessi, Valentina V; Sorbi, Sandro S; Nacmias, Benedetta B; Ricca, Valdo V

Publication Date: 2022-12-20

Variant appearance in text: rs6355

PubMed Link: 36729042

Variant Present in the following documents:

• Main text
• pg-33-79.pdf

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: SLC6A4: G56A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Exploring the Structural and Functional Effects of Nonsynonymous SNPs in the Human Serotonin Transporter Gene Through In Silico Approaches.

Bioinformatics And Biology Insights

Mia, Md Arzo MA; Uddin, Md Nasir MN; Akter, Yasmin Y; Jesmin, ; Wal Marzan, Lolo L

Publication Date: 2022

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 35706533

Variant Present in the following documents:

• Main text
• 10.1177_11779322221104308.pdf

View BVdb publication page

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A Novel Biotinylated Homotryptamine Derivative for Quantum Dot Imaging of Serotonin Transporter in Live Cells.

Frontiers In Cellular Neuroscience

Tomlinson, Ian D ID; Kovtun, Oleg O; Torres, Ruben R; Bellocchio, Laurel G LG; Josephs, Travis T; Rosenthal, Sandra J SJ

Publication Date: 2021

Variant appearance in text: SLC6A4: G56A

PubMed Link: 34867196

Variant Present in the following documents:

• Main text
• fncel-15-667044.pdf

View BVdb publication page

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Genome-wide association study identifies quantitative trait loci affecting cattle temperament.

Zoological Research

Shen, Jia-Fei JF; Chen, Qiu-Ming QM; Zhang, Feng-Wei FW; Hanif, Quratulain Q; Huang, Bi-Zhi BZ; Chen, Ning-Bo NB; Qu, Kai-Xing KX; Zhan, Jing-Xi JX; Chen, Hong H; Jiang, Yu Y; Lei, Chu-Zhao CZ

Publication Date: 2022-01-18

Variant appearance in text: SLC6A4: G56A

PubMed Link: 34766477

Variant Present in the following documents:

• zr-43-1-14.pdf

View BVdb publication page

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A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience

Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C

Publication Date: 2021-10-09

Variant appearance in text: SLC6A4: Gly56Ala; rs6355

PubMed Link: 34627165

Variant Present in the following documents:

• Main text
• 12868_2021_Article_662.pdf

View BVdb publication page

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Human and Machine Intelligence Together Drive Drug Repurposing in Rare Diseases.

Frontiers In Genetics

Challa, Anup P AP; Zaleski, Nicole M NM; Jerome, Rebecca N RN; Lavieri, Robert R RR; Shirey-Rice, Jana K JK; Barnado, April A; Lindsell, Christopher J CJ; Aronoff, David M DM; Crofford, Leslie J LJ; Harris, Raymond C RC; Alp Ikizler, T T; Mayer, Ingrid A IA; Holroyd, Kenneth J KJ; Pulley, Jill M JM

Publication Date: 2021

Variant appearance in text: SLC6A4: Gly56Ala; rs6355

PubMed Link: 34394194

Variant Present in the following documents:

• fgene-12-707836.pdf

View BVdb publication page

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microRNAs and Gene-Environment Interactions in Autism: Effects of Prenatal Maternal Stress and the SERT Gene on Maternal microRNA Expression.

Frontiers In Psychiatry

Beversdorf, David Q DQ; Shah, Ayten A; Jhin, Allison A; Noel-MacDonnell, Janelle J; Hecht, Patrick P; Ferguson, Bradley J BJ; Bruce, Danielle D; Tilley, Michael M; Talebizadeh, Zohreh Z

Publication Date: 2021

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 34290629

Variant Present in the following documents:

• Main text
• fpsyt-12-668577.pdf

View BVdb publication page

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Rare Opportunities for Insights Into Serotonergic Contributions to Brain and Bowel Disorders: Studies of the SERT Ala56 Mouse.

Frontiers In Cellular Neuroscience

Stilley, Samantha E SE; Blakely, Randy D RD

Publication Date: 2021

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 34149362

Variant Present in the following documents:

• Main text
• fncel-15-677563.pdf

View BVdb publication page

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Biological Timing and Neurodevelopmental Disorders: A Role for Circadian Dysfunction in Autism Spectrum Disorders.

Frontiers In Neuroscience

Lorsung, Ethan E; Karthikeyan, Ramanujam R; Cao, Ruifeng R

Publication Date: 2021

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 33776640

Variant Present in the following documents:

• Main text
• fnins-15-642745.pdf

View BVdb publication page

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Serotonin 5-HT1B receptor-mediated behavior and binding in mice with the overactive and dysregulated serotonin transporter Ala56 variant.

Psychopharmacology

O'Reilly, Kally C KC; Connor, Michelle M; Pierson, Jamie J; Shuffrey, Lauren C LC; Blakely, Randy D RD; Ahmari, Susanne E SE; Veenstra-VanderWeele, Jeremy J

Publication Date: 2021-04

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 33511450

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism.

Autism Research And Treatment

Ramaekers, Vincent T VT; Sequeira, Jeffrey M JM; Thöny, Beat B; Quadros, Edward V EV

Publication Date: 2020

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 33294225

Variant Present in the following documents:

• Main text
• AURT2020-9095284.pdf

View BVdb publication page

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A social encounter drives gene expression changes linked to neuronal function, brain development, and related disorders in mice expressing the serotonin transporter Ala56 variant.

Neuroscience Letters

O'Reilly, Kally C KC; Anacker, Allison M J AMJ; Rogers, Tiffany D TD; Forsberg, C Gunnar CG; Wang, Jing J; Zhang, Bing B; Blakely, Randy D RD; Veenstra-VanderWeele, Jeremy J

Publication Date: 2020-06-21

Variant appearance in text: SLC6A4: G56A

PubMed Link: 32437898

Variant Present in the following documents:

• Main text

View BVdb publication page

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How can preclinical mouse models be used to gain insight into prefrontal cortex dysfunction in obsessive-compulsive disorder?

Brain And Neuroscience Advances

Manning, Elizabeth E EE; Ahmari, Susanne E SE

Publication Date: 2018

Variant appearance in text: SLC6A4: G56A

PubMed Link: 32166143

Variant Present in the following documents:

• 10.1177_2398212818783896.pdf

View BVdb publication page

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Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use.

Drug Safety

Jerome, Rebecca N RN; Joly, Meghan Morrison MM; Kennedy, Nan N; Shirey-Rice, Jana K JK; Roden, Dan M DM; Bernard, Gordon R GR; Holroyd, Kenneth J KJ; Denny, Joshua C JC; Pulley, Jill M JM

Publication Date: 2020-06

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 32112228

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prenatal Stress and Maternal Immune Dysregulation in Autism Spectrum Disorders: Potential Points for Intervention.

Current Pharmaceutical Design

Beversdorf, David Q DQ; Stevens, Hanna E HE; Margolis, Kara Gross KG; Van de Water, Judy J

Publication Date: 2019

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 31742491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial.

Autism Research And Treatment

Ramaekers, Vincent Th VT; Sequeira, Jeffrey M JM; DiDuca, Marco M; Vrancken, Géraldine G; Thomas, Aurore A; Philippe, Céline C; Peters, Marie M; Jadot, Annick A; Quadros, Edward V EV

Publication Date: 2019

Variant appearance in text: SLC6A4: G56A

PubMed Link: 31316831

Variant Present in the following documents:

• Main text
• AURT2019-7486431.pdf

View BVdb publication page

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Multifaceted Regulations of the Serotonin Transporter: Impact on Antidepressant Response.

Frontiers In Neuroscience

Baudry, Anne A; Pietri, Mathea M; Launay, Jean-Marie JM; Kellermann, Odile O; Schneider, Benoit B

Publication Date: 2019

Variant appearance in text: 5-HTT: G56A

PubMed Link: 30809118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: SLC6A4: G56A

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder.

Journal Of The American Academy Of Child And Adolescent Psychiatry

Montgomery, Alicia K AK; Shuffrey, Lauren C LC; Guter, Stephen J SJ; Anderson, George M GM; Jacob, Suma S; Mosconi, Matthew W MW; Sweeney, John A JA; Turner, J Blake JB; Sutcliffe, James S JS; Cook, Edwin H EH; Veenstra-VanderWeele, Jeremy J

Publication Date: 2018-11

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 30392628

Variant Present in the following documents:

• Main text

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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p38α MAPK signaling drives pharmacologically reversible brain and gastrointestinal phenotypes in the SERT Ala56 mouse.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Robson, Matthew J MJ; Quinlan, Meagan A MA; Margolis, Kara Gross KG; Gajewski-Kurdziel, Paula A PA; Veenstra-VanderWeele, Jeremy J; Gershon, Michael D MD; Watterson, D Martin DM; Blakely, Randy D RD

Publication Date: 2018-10-23

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 30297392

Variant Present in the following documents:

• Main text

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: rs6355

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Prenatal Stress, Maternal Immune Dysregulation, and Their Association With Autism Spectrum Disorders.

Current Psychiatry Reports

Beversdorf, David Q DQ; Stevens, Hanna E HE; Jones, Karen L KL

Publication Date: 2018-08-09

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 30094645

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics Factors in Major Depression Disease.

Frontiers In Psychiatry

Shadrina, Maria M; Bondarenko, Elena A EA; Slominsky, Petr A PA

Publication Date: 2018

Variant appearance in text: SLC6A4: G56A

PubMed Link: 30083112

Variant Present in the following documents:

• Main text
• fpsyt-09-00334.pdf

View BVdb publication page

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Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder.

Pharmacological Research

Garbarino, Valentina R VR; Gilman, T Lee TL; Daws, Lynette C LC; Gould, Georgianna G GG

Publication Date: 2019-02

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 30009933

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging.

Molecular Autism

Ellegood, Jacob J; Yee, Yohan Y; Kerr, Travis M TM; Muller, Christopher L CL; Blakely, Randy D RD; Henkelman, R Mark RM; Veenstra-VanderWeele, Jeremy J; Lerch, Jason P JP

Publication Date: 2018

Variant appearance in text: 5-HTT: Gly56Ala

PubMed Link: 29651330

Variant Present in the following documents:

• Main text
• 13229_2018_Article_210.pdf

View BVdb publication page

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Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications

George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK

Publication Date: 2018-03-13

Variant appearance in text: rs6355

PubMed Link: 29535388

Variant Present in the following documents:

• 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Association between serotonin transporter gene polymorphisms and increased suicidal risk among HIV positive patients in Uganda.

Bmc Genetics

Kalungi, Allan A; Seedat, Soraya S; Hemmings, Sian M J SMJ; van der Merwe, Lize L; Joloba, Moses L ML; Nanteza, Ann A; Nakassujja, Noeline N; Birabwa, Harriet H; Serwanga, Jennifer J; Kaleebu, Pontiano P; Kinyanda, Eugene E

Publication Date: 2017-07-25

Variant appearance in text: rs6355

PubMed Link: 28743254

Variant Present in the following documents:

• 12863_2017_Article_538.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology.

Frontiers In Neuroscience

Alexander, John J; Potamianou, Hera H; Xing, Jinchuan J; Deng, Li L; Karagiannidis, Iordanis I; Tsetsos, Fotis F; Drineas, Petros P; Tarnok, Zsanett Z; Rizzo, Renata R; Wolanczyk, Tomasz T; Farkas, Luca L; Nagy, Peter P; Szymanska, Urszula U; Androutsos, Christos C; Tsironi, Vaia V; Koumoula, Anastasia A; Barta, Csaba C; , ; Sandor, Paul P; Barr, Cathy L CL; Tischfield, Jay J; Paschou, Peristera P; Heiman, Gary A GA; Georgitsi, Marianthi M

Publication Date: 2016

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 27708560

Variant Present in the following documents:

• fnins-10-00428.pdf
• DataSheet1.xlsx, sheet 2

View BVdb publication page

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Impact of Maternal Serotonin Transporter Genotype on Placental Serotonin, Fetal Forebrain Serotonin, and Neurodevelopment.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Muller, Christopher L CL; Anacker, Allison Mj AM; Rogers, Tiffany D TD; Goeden, Nick N; Keller, Elizabeth H EH; Forsberg, C Gunnar CG; Kerr, Travis M TM; Wender, Carly LA C; Anderson, George M GM; Stanwood, Gregg D GD; Blakely, Randy D RD; Bonnin, Alexandre A; Veenstra-VanderWeele, Jeremy J

Publication Date: 2017-01

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 27550733

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.

Biomolecules & Therapeutics

Kim, Ki Chan KC; Gonzales, Edson Luck EL; Lázaro, María T MT; Choi, Chang Soon CS; Bahn, Geon Ho GH; Yoo, Hee Jeong HJ; Shin, Chan Young CY

Publication Date: 2016-05-01

Variant appearance in text: 5-HTT: Gly56Ala

PubMed Link: 27133257

Variant Present in the following documents:

• Main text
• bt-24-207.pdf

View BVdb publication page

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Serotonin transporter variant drives preventable gastrointestinal abnormalities in development and function.

The Journal Of Clinical Investigation

Margolis, Kara Gross KG; Li, Zhishan Z; Stevanovic, Korey K; Saurman, Virginia V; Israelyan, Narek N; Anderson, George M GM; Snyder, Isaac I; Veenstra-VanderWeele, Jeremy J; Blakely, Randy D RD; Gershon, Michael D MD

Publication Date: 2016-06-01

Variant appearance in text: SLC6A4: G56A

PubMed Link: 27111230

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: rs6355

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The serotonin system in autism spectrum disorder: From biomarker to animal models.

Neuroscience

Muller, C L CL; Anacker, A M J AMJ; Veenstra-VanderWeele, J J

Publication Date: 2016-05-03

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 26577932

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLC6A4: G56A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 9
• pone.0123569.s008.xls, sheet 1

View BVdb publication page

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Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.

Molecular Autism

Adamsen, Dea D; Ramaekers, Vincent V; Ho, Horace Tb HT; Britschgi, Corinne C; Rüfenacht, Véronique V; Meili, David D; Bobrowski, Elise E; Philippe, Paule P; Nava, Caroline C; Van Maldergem, Lionel L; Bruggmann, Rémy R; Walitza, Susanne S; Wang, Joanne J; Grünblatt, Edna E; Thöny, Beat B

Publication Date: 2014

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 25802735

Variant Present in the following documents:

• Main text
• 2040-2392-5-43.pdf

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: SLC6A4: G56A; rs6355

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, 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: SLC6A4: G56A; rs6355

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Serotonin-prefrontal cortical circuitry in anxiety and depression phenotypes: pivotal role of pre- and post-synaptic 5-HT1A receptor expression.

Frontiers In Behavioral Neuroscience

Albert, Paul R PR; Vahid-Ansari, Faranak F; Luckhart, Christine C

Publication Date: 2014

Variant appearance in text: 5-HTT: G56A

PubMed Link: 24936175

Variant Present in the following documents:

• Main text
• fnbeh-08-00199.pdf

View BVdb publication page

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Polymorphism of the COMT, MAO, DAT, NET and 5-HTT Genes, and Biogenic Amines in Parkinson's Disease.

Current Genomics

Dorszewska, Jolanta J; Prendecki, Michal M; Oczkowska, Anna A; Rozycka, Agata A; Lianeri, Margarita M; Kozubski, Wojciech W

Publication Date: 2013-12

Variant appearance in text: 5-HTT: G56A

PubMed Link: 24532984

Variant Present in the following documents:

• Main text

View BVdb publication page

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Study on genes of the serotonergic system and suicidal behavior: protocol for a case-control study in Mexican population.

Bmc Psychiatry

Tovilla-Zárate, Carlos Alfonso CA; González-Castro, Thelma Beatriz TB; Juárez-Rojop, Isela I; Pool García, Sherezada S; Velázquez-Sánchez, Martha Patricia MP; Villar-Soto, Mario M; Genis, Alma A; Nicolini, Humberto H; López-Narváez, María Lilia ML; Jiménez-Santos, María Antonia MA

Publication Date: 2014-02-05

Variant appearance in text: rs6355

PubMed Link: 24495559

Variant Present in the following documents:

• Main text
• 1471-244X-14-29.pdf

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Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Pharmacological Research

Chiba, Peter P; Freissmuth, Michael M; Stockner, Thomas T

Publication Date: 2014-05

Variant appearance in text: SLC6A4: G56A

PubMed Link: 24316454

Variant Present in the following documents:

• Main text

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Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Camilleri, Michael M; Klee, Eric W EW; Shin, Andrea A; Carlson, Paula P; Li, Ying Y; Grover, Madhusudan M; Zinsmeister, Alan R AR

Publication Date: 2014-01-01

Variant appearance in text: rs6355

PubMed Link: 24200957

Variant Present in the following documents:

• Main text

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Evidence for single nucleotide polymorphisms and their association with bipolar disorder.

Neuropsychiatric Disease And Treatment

Szczepankiewicz, Aleksandra A

Publication Date: 2013

Variant appearance in text: rs6355

PubMed Link: 24143106

Variant Present in the following documents:

• Main text

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A review of the serotonin transporter and prenatal cortisol in the development of autism spectrum disorders.

Molecular Autism

Rose'meyer, Roselyn R

Publication Date: 2013-10-08

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 24103554

Variant Present in the following documents:

• Main text

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Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice.

Molecular Autism

Kerr, Travis M TM; Muller, Christopher L CL; Miah, Mahfuzur M; Jetter, Christopher S CS; Pfeiffer, Rita R; Shah, Charisma C; Baganz, Nicole N; Anderson, George M GM; Crawley, Jacqueline N JN; Sutcliffe, James S JS; Blakely, Randy D RD; Veenstra-Vanderweele, Jeremy J

Publication Date: 2013-10-01

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 24083388

Variant Present in the following documents:

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Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome.

Molecular Autism

Campbell, Nicholas G NG; Zhu, Chong-Bin CB; Lindler, Kathryn M KM; Yaspan, Brian L BL; Kistner-Griffin, Emily E; , ; Hewlett, William A WA; Tate, Christopher G CG; Blakely, Randy D RD; Sutcliffe, James S JS

Publication Date: 2013-08-16

Variant appearance in text: SLC6A4: Gly56Ala

PubMed Link: 23953133

Variant Present in the following documents:

• Main text
• 2040-2392-4-28.pdf

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Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder.

Movement Disorders : Official Journal Of The Movement Disorder Society

Moya, Pablo R PR; Wendland, Jens R JR; Rubenstein, Liza M LM; Timpano, Kiara R KR; Heiman, Gary A GA; Tischfield, Jay A JA; King, Robert A RA; Andrews, Anne M AM; Ramamoorthy, Samanda S; McMahon, Francis J FJ; Murphy, Dennis L DL

Publication Date: 2013-08

Variant appearance in text: SLC6A4: G56A

PubMed Link: 23630162

Variant Present in the following documents:

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Independent effects of 5' and 3' functional variants in the serotonin transporter gene on suicidal behavior in the context of childhood trauma.

Journal Of Psychiatric Research

Enoch, Mary-Anne MA; Hodgkinson, Colin A CA; Gorodetsky, Elena E; Goldman, David D; Roy, Alec A

Publication Date: 2013-07

Variant appearance in text: SLC6A4: Gly56Ala; rs6355

PubMed Link: 23558235

Variant Present in the following documents:

• Main text

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SLC6 transporters: structure, function, regulation, disease association and therapeutics.

Molecular Aspects Of Medicine

Pramod, Akula Bala AB; Foster, James J; Carvelli, Lucia L; Henry, L Keith LK

Publication Date: 2013

Variant appearance in text: 5-HTT: G56A

PubMed Link: 23506866

Variant Present in the following documents:

• Main text

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