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Neil Risch

Institute for Human Genetics

124H-index
458Paper Count
6.8WCitation Count
Published Papers 164
Publication Date
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
err2026-05-06
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errHolly C. Beale; Victor Tse; Joanna Y. Lee; Jon Akutagawa; Yusuph Mavura; Brandon Saint-John; Allison Cheney; Dennis R. Mulligan; Guillermo Chacaltana; Martin Gutierrez; Jessica Tenney; Joseph T. Shieh; Pierre-Marie Martin; Tiffany Yip; Ugur Hodoglugil; Alex J. Fay; Angela N. Brooks; Jessica Van Ziffle; Michael D. Stone; Neil Risch; Jeremy R. Sanford; Patrick Devine; Julie D. Saba; Olena M. Vaske; Anne Slavotinek
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Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+years of follow-up
err2025-03-29
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errChoi, M; Zimmerman, SC; Jiang, C; Wang, JX; Swinnerton, K; Hoffmann, TJ; Oni-Orisan, A; Ferguson, EL; Meyers, T; Choudhary, V; Whitmer, RA; Risch, N; Krauss, RM; Schaefer, CM; Glymour, MM; Gilsanz, P
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Independent associations of high-density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias
err2025-02-26
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errFerguson, EL; Zimmerman, SC; Jiang, C; Choi, M; Meyers, TJ; Hoffmann, TJ; Gilsanz, P; Oni-Orisan, A; Wang, JX; Whitmer, RA; Risch, N; Krauss, RM; Schaefer, CA; Glymour, MM
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Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure
err2024-07-01
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errYaacov, Or; Mathiyalagan, Prabhu; Berk-Rauch, Hanna E.; Ganesh, Santhi K.; Zhu, Luke; Hoffmann, Thomas J.; Iribarren, Carlos; Risch, Neil; Lee, Dongwon; Chakravarti, Aravinda
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The Inclusion of Race in Prenatal Screening Algorithms
err2024-06-06
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PREAI
errNorton, Mary E.; Risch, Neil
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Low- and High-Density Lipoprotein Cholesterol and Dementia Risk Over 17 Years of Follow-up Among Members of a Large Health Care Plan
err2023-11-21
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PREAI
errFerguson, Erin L.; Zimmerman, Scott C.; Jiang, Chen; Choi, Minhyuk; Swinnerton, Kaitlin; Choudhary, Vidhu; Meyers, Travis J.; Hoffmann, Thomas J.; Gilsanz, Paola; Oni-Orisan, Akinyemi; Whitmer, Rachel A.; Risch, Neil; Krauss, Ronald M.; Schaefer, Catherine A.; Glymour, M. Maria
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European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
err2023-10-04
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errBudu-Aggrey, Ashley; Kilanowski, Anna; Sobczyk, Maria K.; Shringarpure, Suyash S.; Mitchell, Ruth; Reis, Kadri; Reigo, Anu; Maegi, Reedik; Nelis, Mari; Tanaka, Nao; Brumpton, Ben M.; Thomas, Laurent F.; Sole-Navais, Pol; Flatley, Christopher; Espuela-Ortiz, Antonio; Herrera-Luis, Esther; Lominchar, Jesus V. T.; Bork-Jensen, Jette; Marenholz, Ingo; Arnau-Soler, Aleix; Jeong, Ayoung; Fawcett, Katherine A.; Baurecht, Hansjorg; Rodriguez, Elke; Alves, Alexessander Couto; Kumar, Ashish; Sleiman, Patrick M.; Chang, Xiao; Medina-Gomez, Carolina; Hu, Chen; Xu, Cheng-jian; Qi, Cancan; El-Heis, Sarah; Titcombe, Philip; Antoun, Elie; Fadista, Joao; Wang, Carol A.; Thiering, Elisabeth; Wu, Baojun; Kress, Sara; Kothalawala, Dilini M.; Kadalayil, Latha; Duan, Jiasong; Zhang, Hongmei; Hadebe, Sabelo; Hoffmann, Thomas; Jorgenson, Eric; Choquet, Helene; Risch, Neil; Njolstad, Pal; Andreassen, Ole A.; Johansson, Stefan; Almqvist, Catarina; Gong, Tong; Ullemar, Vilhelmina; Karlsson, Robert; Magnusson, Patrik K. E.; Szwajda, Agnieszka; Burchard, Esteban G.; Thyssen, Jacob P.; Hansen, Torben; Karhus, Line L.; Dantoft, Thomas M.; Jeanrenaud, Alexander C. S. N.; Ghauri, Ahla; Arnold, Andreas; Homuth, Georg; Lau, Susanne; Noethen, Markus M.; Huebner, Norbert; Imboden, Medea; Visconti, Alessia; Falchi, Mario; Bataille, Veronique; Hysi, Pirro; Ballardini, Natalia; Boomsma, Dorret I.; Hottenga, Jouke J.; Mueller-Nurasyid, Martina; Ahluwalia, Tarunveer S.; Stokholm, Jakob; Chawes, Bo; Schoos, Ann-Marie M.; Esplugues, Ana; Bustamante, Mariona; Raby, Benjamin; Arshad, Syed; German, Chris; Esko, Tonu; Milani, Lili A.; Metspalu, Andres; Terao, Chikashi; Abuabara, Katrina; Loset, Mari; Hveem, Kristian; Jacobsson, Bo; Pino-Yanes, Maria; Strachan, David P.; Grarup, Niels; Linneberg, Allan; Lee, Young-Ae; Probst-Hensch, Nicole; Weidinger, Stephan; Jarvelin, Marjo-Riitta; Melen, Erik; Hakonarson, Hakon; Irvine, Alan D.; Jarvis, Deborah; Nijsten, Tamar; Duijts, Liesbeth; Vonk, Judith M.; Koppelmann, Gerard H.; Godfrey, Keith M.; Barton, Sheila J.; Feenstra, Bjarke; Pennell, Craig E.; Sly, Peter D.; Holt, Patrick G.; Williams, L. Keoki; Bisgaard, Hans; Bonnelykke, Klaus; Curtin, John; Simpson, Angela; Murray, Clare; Schikowski, Tamara; Bunyavanich, Supinda; Weiss, Scott T.; Holloway, John W.; Min, Josine L.; Brown, Sara J.; Standl, Marie; Paternoster, Lavinia
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A large genome-wide association study of QT interval length utilizing electronic health records
err2022-10-22
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errOAAI
errHoffmann, Thomas J.; Lu, Meng; Oni-Orisan, Akinyemi; Lee, Catherine; Risch, Neil; Iribarren, Carlos
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Polygenic Risk Score and Statin Relative Risk Reduction for Primary Prevention of Myocardial Infarction in a Real-World Population
err2022-08-24
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errOAAI
errOni-Orisan, Akinyemi; Haldar, Tanushree; Cayabyab, Mari A. S.; Ranatunga, Dilrini K.; Hoffmann, Thomas J.; Iribarren, Carlos; Krauss, Ronald M.; Risch, Neil
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Modest effect of statins on fasting glucose in a longitudinal electronic health record based cohort
err2022-07-14
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errOAAI
errHaldar, Tanushree; Oni-Orisan, Akinyemi; Hoffmann, Thomas J.; Schaefer, Catherine; Iribarren, Carlos; Krauss, Ronald M.; Medina, Marisa W.; Risch, Neil
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Global priorities for large-scale biomarker-based prospective cohorts
err2022-06-01
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errCollins, Rory; Balaconis, Mary K.; Brunak, Soren; Chen, Zhengming; De Silva, Mary; Gaziano, J. Michael; Ginsburg, Geoffrey S.; Jha, Prabhat; Kuri, Pablo; Metspalu, Andres; Mulder, Nicola; Risch, Neil
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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
err2022-04-11
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errPalmer, Duncan S.; Howrigan, Daniel P.; Chapman, Sinead B.; Adolfsson, Rolf; Bass, Nick; Blackwood, Douglas; Boks, Marco P. M.; Chen, Chia-Yen; Churchhouse, Claire; Corvin, Aiden P.; Craddock, Nicholas; Curtis, David; Di Florio, Arianna; Dickerson, Faith; Freimer, Nelson B.; Goes, Fernando S.; Jia, Xiaoming; Jones, Ian; Jones, Lisa; Jonsson, Lina; Kahn, Rene S.; Landen, Mikael; Locke, Adam E.; McIntosh, Andrew M.; McQuillin, Andrew; Morris, Derek W.; O'Donovan, Michael C.; Ophoff, Roel A.; Owen, Michael J.; Pedersen, Nancy L.; Posthuma, Danielle; Reif, Andreas; Risch, Neil; Schaefer, Catherine; Scott, Laura; Singh, Tarjinder; Smoller, Jordan W.; Solomonson, Matthew; St Clair, David; Stahl, Eli A.; Vreeker, Annabel; Walters, James T. R.; Wang, Weiqing; Watts, Nicholas A.; Yolken, Robert; Zandi, Peter P.; Neale, Benjamin M.
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The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research
err2022-02-01
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PREAI
errNorstad, Matthew; Outram, Simon; Brown, Julia E. H.; Zamora, Astrid N.; Koenig, Barbara A.; Risch, Neil; Norton, Mary E.; Slavotinek, Anne; Ackerman, Sara L.
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QT Interval Dynamics and Cardiovascular Outcomes: A Cohort Study in an Integrated Health Care Delivery System
err2021-10-05
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errOAAI
errMantri, Neha; Lu, Meng; Zaroff, Jonathan G.; Risch, Neil; Hoffmann, Thomas; Oni-Orisan, Akinyemi; Lee, Catherine; Jorgenson, Eric; Iribarren, Carlos
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Effect of SLCO1B1 T521C on Statin-Related Myotoxicity With Use of Lovastatin and Atorvastatin
err2021-07-23
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errLu, Brian; Sun, Laura; Seraydarian, Manuel; Hoffmann, Thomas J.; Medina, Marisa W.; Risch, Neil; Iribarren, Carlos; Krauss, Ronald M.; Oni-Orisan, Akinyemi
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A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts
err2021-06-17
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errVeturi, Yogasudha; Lucas, Anastasia; Bradford, Yuki; Hui, Daniel; Dudek, Scott; Theusch, Elizabeth; Verma, Anurag; Miller, Jason E.; Kullo, Iftikhar; Hakonarson, Hakon; Sleiman, Patrick; Schaid, Daniel; Stein, Charles M.; Edwards, Digna R. Velez; Feng, QiPing; Wei, Wei-Qi; Medina, Marisa W.; Krauss, Ronald M.; Hoffmann, Thomas J.; Risch, Neil; Voight, Benjamin F.; Rader, Daniel J.; Ritchie, Marylyn D.
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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (Jan, 10.1038/s41380-020-01006-9, 2021)
err2021-03-05
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errJia, Xiaoming; Goes, Fernando S.; Locke, Adam E.; Palmer, Duncan; Wang, Weiqing; Cohen-Woods, Sarah; Genovese, Giulio; Jackson, Anne U.; Jiang, Chen; Kvale, Mark; Mullins, Niamh; Nguyen, Hoang; Pirooznia, Mehdi; Rivera, Margarita; Ruderfer, Douglas M.; Shen, Ling; Thai, Khanh; Zawistowski, Matthew; Zhuang, Yongwen; Abecasis, Goncalo; Akil, Huda; Bergen, Sarah; Burmeister, Margit; Chapman, Sinead; DelaBastide, Melissa; Jureus, Anders; Kang, Hyun Min; Kwok, Pui-Yan; Li, Jun Z.; Levy, Shawn E.; Monson, Eric T.; Moran, Jennifer; Sobell, Janet; Watson, Stanley; Willour, Virginia; Zollner, Sebastian; Adolfsson, Rolf; Blackwood, Douglas; Boehnke, Michael; Breen, Gerome; Corvin, Aiden; Craddock, Nick; DiFlorio, Arianna; Hultman, Christina M.; Landen, Mikael; Lewis, Cathryn; McCarroll, Steven A.; Richard McCombie, W.; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Morris, Derek; Myers, Richard M.; O'Donovan, Michael; Ophoff, Roel; Boks, Marco; Kahn, Rene; Ouwehand, Willem; Owen, Michael; Pato, Carlos; Pato, Michele; Posthuma, Danielle; Potash, James B.; Reif, Andreas; Sklar, Pamela; Smoller, Jordan; Sullivan, Patrick F.; Vincent, John; Walters, James; Neale, Benjamin; Purcell, Shaun; Risch, Neil; Schaefer, Catherine; Stahl, Eli A.; Zandi, Peter P.; Scott, Laura J.
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