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Page 1
Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S. Holder-Espinasse M, et al. Among authors: patch c. Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622331 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).
Middleton A, Patch C, Wiggins J, Barnes K, Crawford G, Benjamin C, Bruce A; Association of Genetic Nurses and Counsellors in United Kingdom and Ireland. Middleton A, et al. Among authors: patch c. Eur J Hum Genet. 2014 Aug;22(8):955-6. doi: 10.1038/ejhg.2013.301. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398792 Free PMC article.
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH; EuroGentest and ESHG/PPPC Priority Consortium. Severin F, et al. Eur J Hum Genet. 2015 Jun;23(6):729-35. doi: 10.1038/ejhg.2014.190. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248395 Free PMC article.
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D, Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S, Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass N. Wolfe K, et al. Among authors: patch c. Eur J Hum Genet. 2016 Jan;25(1):66-72. doi: 10.1038/ejhg.2016.107. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650969 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors.
Middleton A, Marks P, Bruce A, Protheroe-Davies LK, King C, Claber O, Houghton C, Giffney C, Macleod R, Dolling C, Kenwrick S, Scotcher D, Hall G, Patch C, Boyes L. Middleton A, et al. Among authors: patch c. Eur J Hum Genet. 2017 Mar 22;25(6):659-661. doi: 10.1038/ejhg.2017.28. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327572 Free PMC article.
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.
Fellmann F, van El CG, Charron P, Michaud K, Howard HC, Boers SN, Clarke AJ, Duguet AM, Forzano F, Kauferstein S, Kayserili H, Lucassen A, Mendes Á, Patch C, Radojkovic D, Rial-Sebbag E, Sheppard MN, Tassé AM, Temel SG, Sajantila A, Basso C, Wilde AAM, Cornel MC; on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology. Fellmann F, et al. Among authors: patch c. Eur J Hum Genet. 2019 Dec;27(12):1763-1773. doi: 10.1038/s41431-019-0445-y. Epub 2019 Jun 24. Eur J Hum Genet. 2019. PMID: 31235869 Free PMC article.
ESHG PPPC Comments on postmortem use of genetic data for research purposes.
Fellmann F, Rial-Sebbag E, Patch C, Hentze S, Stefandottir V, Mendes Á, van El CG, Cornel MC, Forzano F; Public and Professional Committee (PPPC) of the European Society of Human Genetics (ESHG). Fellmann F, et al. Among authors: patch c. Eur J Hum Genet. 2020 Feb;28(2):144-146. doi: 10.1038/s41431-019-0525-z. Epub 2019 Oct 8. Eur J Hum Genet. 2020. PMID: 31595045 Free PMC article. No abstract available.
237 results