Publications:

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Deep learning predicts the impact of regulatory variants on cell-type-specific enhancers in the brain.

Bioinformatics Advances

Zheng, An A; Shen, Zeyang Z; Glass, Christopher K CK; Gymrek, Melissa M

Publication Date: 2023

Variant appearance in text: rs324017

PubMed Link: 36726730

Variant Present in the following documents:

• Main text
• vbad002.pdf

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Genetic evidence for a potential causal relationship between insomnia symptoms and suicidal behavior: a Mendelian randomization study.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Nassan, Malik M; Daghlas, Iyas I; Winkelman, John W JW; Dashti, Hassan S HS; , ; Saxena, Richa R

Publication Date: 2022-08

Variant appearance in text: rs324017

PubMed Link: 35538198

Variant Present in the following documents:

• Main text
• 41386_2022_Article_1319.pdf

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The Role of Brain Microvascular Endothelial Cell and Blood-Brain Barrier Dysfunction in Schizophrenia.

Complex Psychiatry

Pong, Sovannarath S; Karmacharya, Rakesh R; Sofman, Marianna M; Bishop, Jeffrey R JR; Lizano, Paulo P

Publication Date: 2020-10

Variant appearance in text: rs324017

PubMed Link: 34883503

Variant Present in the following documents:

• Main text

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Genetically Predicted Insomnia in Relation to 14 Cardiovascular Conditions and 17 Cardiometabolic Risk Factors: A Mendelian Randomization Study.

Journal Of The American Heart Association

Liu, Xinhui X; Li, Chuanbao C; Sun, Xiaoru X; Yu, Yuanyuan Y; Si, Shucheng S; Hou, Lei L; Yan, Ran R; Yu, Yifan Y; Li, Mingzhuo M; Li, Hongkai H; Xue, Fuzhong F

Publication Date: 2021-08-03

Variant appearance in text: rs324017

PubMed Link: 34315237

Variant Present in the following documents:

• JAH3-10-e020187.pdf
• JAH3-10-e020187-s001.pdf

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Causal Effects of Sleep Traits on Ischemic Stroke and Its Subtypes: A Mendelian Randomization Study.

Nature And Science Of Sleep

Cai, Huan H; Liang, Jialin J; Liu, Zhonghua Z; Fang, Liang L; Zheng, Jinghong J; Xu, Jiahe J; Chen, Liyi L; Sun, Wen W; Zhang, Hao H

Publication Date: 2020

Variant appearance in text: rs324017

PubMed Link: 33117014

Variant Present in the following documents:

• Main text
• nss-12-783.pdf

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CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.

Plos One

Addepalli, Aditya A; Kalyani, Sakhare S; Singh, Minali M; Bandyopadhyay, Debashree D; Mohan, K Naga KN

Publication Date: 2020

Variant appearance in text: rs324017

PubMed Link: 31995602

Variant Present in the following documents:

• Main text
• pone.0228156.pdf

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs324017

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

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Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

Journal Of Psychiatry & Neuroscience : Jpn

Torrico, Bàrbara B; Shaw, Alex D. AD; Mosca, Roberto R; Vivó-Luque, Norma N; Hervás, Amaia A; Fernàndez-Castillo, Noèlia N; Aloy, Patrick P; Bayés, Mònica M; Fullerton, Janice M. JM; Cormand, Bru B; Toma, Claudio C

Publication Date: 2019-09-01

Variant appearance in text: rs324017

PubMed Link: 31094488

Variant Present in the following documents:

• Main text

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Biological and clinical insights from genetics of insomnia symptoms.

Nature Genetics

Lane, Jacqueline M JM; Jones, Samuel E SE; Dashti, Hassan S HS; Wood, Andrew R AR; Aragam, Krishna G KG; van Hees, Vincent T VT; Strand, Linn B LB; Winsvold, Bendik S BS; Wang, Heming H; Bowden, Jack J; Song, Yanwei Y; Patel, Krunal K; Anderson, Simon G SG; Beaumont, Robin N RN; Bechtold, David A DA; Cade, Brian E BE; Haas, Mary M; Kathiresan, Sekar S; Little, Max A MA; Luik, Annemarie I AI; Loudon, Andrew S AS; Purcell, Shaun S; Richmond, Rebecca C RC; Scheer, Frank A J L FAJL; Schormair, Barbara B; Tyrrell, Jessica J; Winkelman, John W JW; Winkelmann, Juliane J; , ; Hveem, Kristian K; Zhao, Chen C; Nielsen, Jonas B JB; Willer, Cristen J CJ; Redline, Susan S; Spiegelhalder, Kai K; Kyle, Simon D SD; Ray, David W DW; Zwart, John-Anker JA; Brumpton, Ben B; Frayling, Timothy M TM; Lawlor, Deborah A DA; Rutter, Martin K MK; Weedon, Michael N MN; Saxena, Richa R

Publication Date: 2019-03

Variant appearance in text: rs324017

PubMed Link: 30804566

Variant Present in the following documents:

• Main text
• nihms-1519714.pdf

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Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis.

Nature Neuroscience

Jaffe, Andrew E AE; Straub, Richard E RE; Shin, Joo Heon JH; Tao, Ran R; Gao, Yuan Y; Collado-Torres, Leonardo L; Kam-Thong, Tony T; Xi, Hualin S HS; Quan, Jie J; Chen, Qiang Q; Colantuoni, Carlo C; Ulrich, William S WS; Maher, Brady J BJ; Deep-Soboslay, Amy A; , ; Cross, Alan J AJ; Brandon, Nicholas J NJ; Leek, Jeffrey T JT; Hyde, Thomas M TM; Kleinman, Joel E JE; Weinberger, Daniel R DR

Publication Date: 2018-08

Variant appearance in text: rs324017

PubMed Link: 30050107

Variant Present in the following documents:

• Main text

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Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.

American Journal Of Human Genetics

Dobbyn, Amanda A; Huckins, Laura M LM; Boocock, James J; Sloofman, Laura G LG; Glicksberg, Benjamin S BS; Giambartolomei, Claudia C; Hoffman, Gabriel E GE; Perumal, Thanneer M TM; Girdhar, Kiran K; Jiang, Yan Y; Raj, Towfique T; Ruderfer, Douglas M DM; Kramer, Robin S RS; Pinto, Dalila D; , ; Akbarian, Schahram S; Roussos, Panos P; Domenici, Enrico E; Devlin, Bernie B; Sklar, Pamela P; Stahl, Eli A EA; Sieberts, Solveig K SK

Publication Date: 2018-06-07

Variant appearance in text: rs324017

PubMed Link: 29805045

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf

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Immediate Early Genes Anchor a Biological Pathway of Proteins Required for Memory Formation, Long-Term Depression and Risk for Schizophrenia.

Frontiers In Behavioral Neuroscience

Marballi, Ketan K KK; Gallitano, Amelia L AL

Publication Date: 2018

Variant appearance in text: rs324017

PubMed Link: 29520222

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Identification of shared risk loci and pathways for bipolar disorder and schizophrenia.

Plos One

Forstner, Andreas J AJ; Hecker, Julian J; Hofmann, Andrea A; Maaser, Anna A; Reinbold, Céline S CS; Mühleisen, Thomas W TW; Leber, Markus M; Strohmaier, Jana J; Degenhardt, Franziska F; Treutlein, Jens J; Mattheisen, Manuel M; Schumacher, Johannes J; Streit, Fabian F; Meier, Sandra S; Herms, Stefan S; Hoffmann, Per P; Lacour, André A; Witt, Stephanie H SH; Reif, Andreas A; Müller-Myhsok, Bertram B; Lucae, Susanne S; Maier, Wolfgang W; Schwarz, Markus M; Vedder, Helmut H; Kammerer-Ciernioch, Jutta J; Pfennig, Andrea A; Bauer, Michael M; Hautzinger, Martin M; Moebus, Susanne S; Schenk, Lorena M LM; Fischer, Sascha B SB; Sivalingam, Sugirthan S; Czerski, Piotr M PM; Hauser, Joanna J; Lissowska, Jolanta J; Szeszenia-Dabrowska, Neonila N; Brennan, Paul P; McKay, James D JD; Wright, Adam A; Mitchell, Philip B PB; Fullerton, Janice M JM; Schofield, Peter R PR; Montgomery, Grant W GW; Medland, Sarah E SE; Gordon, Scott D SD; Martin, Nicholas G NG; Krasnov, Valery V; Chuchalin, Alexander A; Babadjanova, Gulja G; Pantelejeva, Galina G; Abramova, Lilia I LI; Tiganov, Alexander S AS; Polonikov, Alexey A; Khusnutdinova, Elza E; Alda, Martin M; Cruceanu, Cristiana C; Rouleau, Guy A GA; Turecki, Gustavo G; Laprise, Catherine C; Rivas, Fabio F; Mayoral, Fermin F; Kogevinas, Manolis M; Grigoroiu-Serbanescu, Maria M; Becker, Tim T; Schulze, Thomas G TG; Rietschel, Marcella M; Cichon, Sven S; Fier, Heide H; Nöthen, Markus M MM

Publication Date: 2017

Variant appearance in text: rs324017

PubMed Link: 28166306

Variant Present in the following documents:

• Main text

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Variability of 128 schizophrenia-associated gene variants across distinct ethnic populations.

Translational Psychiatry

Ohi, K K; Shimada, T T; Yasuyama, T T; Uehara, T T; Kawasaki, Y Y

Publication Date: 2017-01-03

Variant appearance in text: rs324017

PubMed Link: 28045464

Variant Present in the following documents:

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: rs324017

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9
• NIHMS753666-supplement-2.xlsx, sheet 4
• NIHMS753666-supplement-2.xlsx, sheet 6
• NIHMS753666-supplement-2.xlsx, sheet 11

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