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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1995 1
1998 2
2001 2
2005 1
2006 3
2007 1
2008 4
2009 5
2010 3
2011 4
2012 4
2013 1
2014 4
2015 4
2016 5
2017 2
2018 2
2019 5
2020 6
2021 10
2022 8
2023 17
2024 7

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90 results

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Page 1
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
Genetics of gynaecological cancers.
Constantinou P, Tischkowitz M. Constantinou P, et al. Best Pract Res Clin Obstet Gynaecol. 2017 Jul;42:114-124. doi: 10.1016/j.bpobgyn.2017.01.004. Epub 2017 Jan 24. Best Pract Res Clin Obstet Gynaecol. 2017. PMID: 28202331 Review.
Hyperpolarized MRI with silicon micro and nanoparticles: Principles and applications.
Pudakalakatti S, Enriquez JS, McCowan C, Ramezani S, Davis JS, Zacharias NM, Bourgeois D, Constantinou PE, Harrington DA, Carson D, Farach-Carson MC, Bhattacharya PK. Pudakalakatti S, et al. Among authors: constantinou pe. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2021 Nov;13(6):e1722. doi: 10.1002/wnan.1722. Epub 2021 May 13. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2021. PMID: 33982426 Free PMC article. Review.
Altermagnetic lifting of Kramers spin degeneracy.
Krempaský J, Šmejkal L, D'Souza SW, Hajlaoui M, Springholz G, Uhlířová K, Alarab F, Constantinou PC, Strocov V, Usanov D, Pudelko WR, González-Hernández R, Birk Hellenes A, Jansa Z, Reichlová H, Šobáň Z, Gonzalez Betancourt RD, Wadley P, Sinova J, Kriegner D, Minár J, Dil JH, Jungwirth T. Krempaský J, et al. Among authors: constantinou pc. Nature. 2024 Feb;626(7999):517-522. doi: 10.1038/s41586-023-06907-7. Epub 2024 Feb 14. Nature. 2024. PMID: 38356066 Free PMC article.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: constantinou p. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. PMID: 37808847 Free PMC article. Updated. Preprint.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: constantinou p. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M. Richardson R, et al. Among authors: constantinou p. Am J Med Genet A. 2022 Mar;188(3):867-877. doi: 10.1002/ajmg.a.62595. Epub 2021 Dec 11. Am J Med Genet A. 2022. PMID: 34894057 Free article.
90 results