Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2004 1
2005 3
2006 1
2007 2
2008 2
2009 2
2010 3
2011 2
2012 1
2013 2
2014 1
2015 2
2016 4
2017 4
2018 2
2019 1
2020 2
2021 5
2022 7
2023 6
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

46 results

Results by year

Filters applied: . Clear all
Page 1
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: writzl k. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Rezidivierende fulminante Myokarditis mit wiederholtem Einsatz der ECMO bei einem Kind.
Vercek G, Markelj G, Mlakar G, Primec ZR, Bertok S, Writzl K, Stefanija MA, Bajic S, Vesel S, Ihan A, Stritar A, Pokorn M, Kovac J, Debeljak M, Vidmar I, Avcin T, Grosek S. Vercek G, et al. Among authors: writzl k. Klin Padiatr. 2019 Mar;231(2):80-86. doi: 10.1055/a-0831-2593. Epub 2019 Mar 14. Klin Padiatr. 2019. PMID: 30870874 German.
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: writzl k. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
Immunological abnormalities in CHARGE syndrome.
Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC. Writzl K, et al. Eur J Med Genet. 2007 Sep-Oct;50(5):338-45. doi: 10.1016/j.ejmg.2007.05.002. Epub 2007 May 27. Eur J Med Genet. 2007. PMID: 17684005 Review.
Improving diagnostics of rare genetic diseases with NGS approaches.
Vinkšel M, Writzl K, Maver A, Peterlin B. Vinkšel M, et al. Among authors: writzl k. J Community Genet. 2021 Apr;12(2):247-256. doi: 10.1007/s12687-020-00500-5. Epub 2021 Jan 15. J Community Genet. 2021. PMID: 33452619 Free PMC article.
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Eur J Hum Genet. 2022 May;30(5):493-495. doi: 10.1038/s41431-021-01000-x. Epub 2021 Dec 17. Eur J Hum Genet. 2022. PMID: 34916614 Free PMC article.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Liu P, et al. Among authors: writzl k. Cell. 2017 Feb 23;168(5):830-842.e7. doi: 10.1016/j.cell.2017.01.037. Cell. 2017. PMID: 28235197 Free PMC article.
46 results