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Page 1
From Inception to ConcePTION: Genesis of a Network to Support Better Monitoring and Communication of Medication Safety During Pregnancy and Breastfeeding.
Thurin NH, Pajouheshnia R, Roberto G, Dodd C, Hyeraci G, Bartolini C, Paoletti O, Nordeng H, Wallach-Kildemoes H, Ehrenstein V, Dudukina E, MacDonald T, De Paoli G, Loane M, Damase-Michel C, Beau AB, Droz-Perroteau C, Lassalle R, Bergman J, Swart K, Schink T, Cavero-Carbonell C, Barrachina-Bonet L, Gomez-Lumbreras A, Giner-Soriano M, Aragón M, Neville AJ, Puccini A, Pierini A, Ientile V, Trifirò G, Rissmann A, Leinonen MK, Martikainen V, Jordan S, Thayer D, Scanlon I, Georgiou ME, Cunnington M, Swertz M, Sturkenboom M, Gini R. Thurin NH, et al. Among authors: swertz m. Clin Pharmacol Ther. 2022 Jan;111(1):321-331. doi: 10.1002/cpt.2476. Epub 2021 Nov 26. Clin Pharmacol Ther. 2022. PMID: 34826340 Free PMC article.
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Among authors: swertz ma. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.
The EU Child Cohort Network's core data: establishing a set of findable, accessible, interoperable and re-usable (FAIR) variables.
Pinot de Moira A, Haakma S, Strandberg-Larsen K, van Enckevort E, Kooijman M, Cadman T, Cardol M, Corpeleijn E, Crozier S, Duijts L, Elhakeem A, Eriksson JG, Felix JF, Fernández-Barrés S, Foong RE, Forhan A, Grote V, Guerlich K, Heude B, Huang RC, Järvelin MR, Jørgensen AC, Mikkola TM, Nader JLT, Pedersen M, Popovic M, Rautio N, Richiardi L, Ronkainen J, Roumeliotaki T, Salika T, Sebert S, Vinther JL, Voerman E, Vrijheid M, Wright J, Yang TC, Zariouh F, Charles MA, Inskip H, Jaddoe VWV, Swertz MA, Nybo Andersen AM; LifeCycle Project Group. Pinot de Moira A, et al. Among authors: swertz ma. Eur J Epidemiol. 2021 May;36(5):565-580. doi: 10.1007/s10654-021-00733-9. Epub 2021 Apr 21. Eur J Epidemiol. 2021. PMID: 33884544 Free PMC article.
Exome sequencing in a family segregating for celiac disease.
Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC. Szperl AM, et al. Among authors: swertz m. Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21. Clin Genet. 2011. PMID: 21627641
The LifeCycle Project-EU Child Cohort Network: a federated analysis infrastructure and harmonized data of more than 250,000 children and parents.
Jaddoe VWV, Felix JF, Andersen AN, Charles MA, Chatzi L, Corpeleijn E, Donner N, Elhakeem A, Eriksson JG, Foong R, Grote V, Haakma S, Hanson M, Harris JR, Heude B, Huang RC, Inskip H, Järvelin MR, Koletzko B, Lawlor DA, Lindeboom M, McEachan RRC, Mikkola TM, Nader JLT, de Moira AP, Pizzi C, Richiardi L, Sebert S, Schwalber A, Sunyer J, Swertz MA, Vafeiadi M, Vrijheid M, Wright J, Duijts L; LifeCycle Project Group. Jaddoe VWV, et al. Among authors: swertz ma. Eur J Epidemiol. 2020 Jul;35(7):709-724. doi: 10.1007/s10654-020-00662-z. Epub 2020 Jul 23. Eur J Epidemiol. 2020. PMID: 32705500 Free PMC article.
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. van den Akker PC, et al. Among authors: swertz ma. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
The ARVD/C genetic variants database: 2014 update.
Lazzarini E, Jongbloed JD, Pilichou K, Thiene G, Basso C, Bikker H, Charbon B, Swertz M, van Tintelen JP, van der Zwaag PA. Lazzarini E, et al. Among authors: swertz m. Hum Mutat. 2015 Apr;36(4):403-10. doi: 10.1002/humu.22765. Epub 2015 Mar 19. Hum Mutat. 2015. PMID: 25676813
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. van der Velde KJ, et al. Among authors: swertz ma. Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25871441 Free PMC article.
235 results