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The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: nellaker c. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
Glastonbury CA, Pulit SL, Honecker J, Censin JC, Laber S, Yaghootkar H, Rahmioglu N, Pastel E, Kos K, Pitt A, Hudson M, Nellåker C, Beer NL, Hauner H, Becker CM, Zondervan KT, Frayling TM, Claussnitzer M, Lindgren CM. Glastonbury CA, et al. Among authors: nellaker c. PLoS Comput Biol. 2020 Aug 14;16(8):e1008044. doi: 10.1371/journal.pcbi.1008044. eCollection 2020 Aug. PLoS Comput Biol. 2020. PMID: 32797044 Free PMC article.
Big data phenotyping in rare diseases: some ethical issues.
Hallowell N, Parker M, Nellåker C. Hallowell N, et al. Among authors: nellaker c. Genet Med. 2019 Feb;21(2):272-274. doi: 10.1038/s41436-018-0067-8. Genet Med. 2019. PMID: 29907800 Free PMC article. No abstract available.
Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21 st Newborn Case-Control Study protocol.
Kennedy SH, Victora CG, Craik R, Ash S, Barros FC, Barsosio HC, Berkley JA, Carvalho M, Fernandes M, Cheikh Ismail L, Lambert A, Lindgren CM, McGready R, Munim S, Nellåker C, Noble JA, Norris SA, Nosten F, Ohuma EO, Papageorghiou AT, Stein A, Stones W, Tshivuila-Matala COO, Staines Urias E, Vatish M, Wulff K, Zainab G, Zondervan KT, Uauy R, Bhutta ZA, Villar J. Kennedy SH, et al. Among authors: nellaker c. Gates Open Res. 2019 Feb 5;2:49. doi: 10.12688/gatesopenres.12869.2. eCollection 2018. Gates Open Res. 2019. PMID: 31172050 Free PMC article.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study; Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. Reijnders MRF, et al. Among authors: nellaker c. Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861108 Free PMC article.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium. Nellåker C, et al. Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019. Front Genet. 2019. PMID: 31417602 Free PMC article.
48 results