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Page 1
The landscape of tolerated genetic variation in humans and primates.
Gao H, Hamp T, Ede J, Schraiber JG, McRae J, Singer-Berk M, Yang Y, Dietrich ASD, Fiziev PP, Kuderna LFK, Sundaram L, Wu Y, Adhikari A, Field Y, Chen C, Batzoglou S, Aguet F, Lemire G, Reimers R, Balick D, Janiak MC, Kuhlwilm M, Orkin JD, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, do Amaral JV, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Bataillon T, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin A, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Lek M, Sunyaev S, O'Donnell-Luria A, Rehm HL, Xu J, Rogers J, Marques-Bonet T, Farh KK. Gao H, et al. Among authors: reimers r. Science. 2023 Jun 2;380(6648):eabn8153. doi: 10.1126/science.abn8197. Epub 2023 Jun 2. Science. 2023. PMID: 37262156 Free PMC article.
The landscape of tolerated genetic variation in humans and primates.
Gao H, Hamp T, Ede J, Schraiber JG, McRae J, Singer-Berk M, Yang Y, Dietrich A, Fiziev P, Kuderna L, Sundaram L, Wu Y, Adhikari A, Field Y, Chen C, Batzoglou S, Aguet F, Lemire G, Reimers R, Balick D, Janiak MC, Kuhlwilm M, Orkin JD, Manu S, Valenzuela A, Bergman J, Rouselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath J, Hvilsom C, Juan D, Frandsen P, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, do Amaral JV, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Batallion T, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin A, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Lek M, Sunyaev S, O'Donnell A, Rehm H, Xu J, Rogers J, Marques-Bonet T, Kai-How Farh K. Gao H, et al. Among authors: reimers r. bioRxiv [Preprint]. 2023 May 2:2023.05.01.538953. doi: 10.1101/2023.05.01.538953. bioRxiv. 2023. PMID: 37205491 Free PMC article. Updated. Preprint.
Genetic diagnosis in the fetus.
Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Wojcik MH, et al. Among authors: reimers r. J Perinatol. 2020 Jul;40(7):997-1006. doi: 10.1038/s41372-020-0627-z. Epub 2020 Feb 24. J Perinatol. 2020. PMID: 32094481 Free PMC article. Review.
Unique Challenges of NIPT for Sex Chromosome Aneuploidy.
Wilkins-Haug L, Reimers R. Wilkins-Haug L, et al. Among authors: reimers r. Clin Obstet Gynecol. 2023 Sep 1;66(3):568-578. doi: 10.1097/GRF.0000000000000804. Epub 2023 Jul 24. Clin Obstet Gynecol. 2023. PMID: 37650669
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Nadimpalli Kobren S, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Willett J, Berselli M, Ronchetti W, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Nadimpalli Kobren S, et al. Among authors: reimers r. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580158. doi: 10.1101/2024.02.13.580158. bioRxiv. 2024. PMID: 38405764 Free PMC article. Preprint.
Validation of claims-based algorithms to identify non-live birth outcomes.
Zhu Y, Bateman BT, Hernandez-Diaz S, Gray KJ, Straub L, Reimers RM, Manning-Geist B, Yoselevsky E, Taylor LG, Ouellet-Hellstrom R, Ma Y, Qiang Y, Hua W, Huybrechts KF. Zhu Y, et al. Among authors: reimers rm. Pharmacoepidemiol Drug Saf. 2023 Apr;32(4):468-474. doi: 10.1002/pds.5574. Epub 2022 Nov 30. Pharmacoepidemiol Drug Saf. 2023. PMID: 36420643 Free PMC article.
32 results