المؤلفون: Koido, Kati, Malmgren, Charlotta Ingvoldstad, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Božina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina

المصدر: Koido , K , Malmgren , C I , Pojskic , L , Almos , P Z , Bergen , S E , Borg , I , Božina , N , Coviello , D A , Degenhardt , F , Ganoci , L , Jensen , U B , Durand-Lennad , L , Laurent-Levinson , C , McQuillin , A , Navickas , A , Pace , N P , Paneque , M , Rietschel , M , Grigoroiu-Serbanescu , M , Soller , M J , Suvisaari , J , Utkus , A , Van Assche , E ....

مصطلحات موضوعية: Clinical genetic and pharmacogenetic testing, Genetic counseling, Healthcare implementation, Neurodevelopmental disorders, Psychiatric disorders

العلاقة: https://pure.au.dk/portal/da/publications/lack-of-guidelines-and-translational-knowledge-is-hindering-the-implementation-of-psychiatricTest-genetic-counseling-and-testing-within-europe--a-multiprofessional-survey-study(108e3d5d-983f-4c31-9137-072be6a56add).html

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104805Test
https://pure.au.dk/portal/da/publications/lack-of-guidelines-and-translational-knowledge-is-hindering-the-implementation-of-psychiatricTest-genetic-counseling-and-testing-within-europe--a-multiprofessional-survey-study(108e3d5d-983f-4c31-9137-072be6a56add).html
http://www.scopus.com/inward/record.url?scp=85164319157&partnerID=8YFLogxKTest

المصدر: Genomics England Research Consortium 2021 , ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ' , American Journal of Human Genetics , vol. 108 , no. 6 , pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025Test

مصطلحات موضوعية: developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants

العلاقة: https://research.manchester.ac.uk/en/publications/81b6b315-c593-4fd0-a42b-8130ce2b2a63Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.025Test
https://research.manchester.ac.uk/en/publications/81b6b315-c593-4fd0-a42b-8130ce2b2a63Test
https://eprints.whiterose.ac.uk/174965Test/

المؤلفون: Koido, Kati, Malmgren, Charlotta Ingvoldstad, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Božina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina

المصدر: Koido , K , Malmgren , C I , Pojskic , L , Almos , P Z , Bergen , S E , Borg , I , Božina , N , Coviello , D A , Degenhardt , F , Ganoci , L , Jensen , U B , Durand-Lennad , L , Laurent-Levinson , C , McQuillin , A , Navickas , A , Pace , N P , Paneque , M , Rietschel , M , Grigoroiu-Serbanescu , M , Soller , M J , Suvisaari , J , Utkus , A , Van Assche , E ....

مصطلحات موضوعية: Clinical genetic and pharmacogenetic testing, Genetic counseling, Healthcare implementation, Neurodevelopmental disorders, Psychiatric disorders, edu, psy

العلاقة: https://pure.au.dk/portal/da/publications/lack-of-guidelines-and-translational-knowledge-is-hindering-the-implementation-of-psychiatricTest-genetic-counseling-and-testing-within-europe--a-multiprofessional-survey-study(108e3d5d-983f-4c31-9137-072be6a56add).html

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104805Test
https://pure.au.dk/portal/da/publications/lack-of-guidelines-and-translational-knowledge-is-hindering-the-implementation-of-psychiatricTest-genetic-counseling-and-testing-within-europe--a-multiprofessional-survey-study(108e3d5d-983f-4c31-9137-072be6a56add).html

المؤلفون: Dias, Cristina, Sincan, Murat, Cherukuri, Praveen F., Rupps, Rosemarie, Huang, Yan, Briemberg, Hannah, Selby, Kathryn, Mullikin, James C., Markello, Thomas C., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.

المصدر: Dias , C , Sincan , M , Cherukuri , P F , Rupps , R , Huang , Y , Briemberg , H , Selby , K , Mullikin , J C , Markello , T C , Adams , D R , Gahl , W A & Boerkoel , C F 2012 , ' An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia ' , Human Mutation , vol. 33 , no. 4 , pp. 614-626 . https://doi.org/10.1002/humu.22032Test

مصطلحات موضوعية: CAPN3, Clinical genetic testing, Exome, HSP, LGMD, Neuromuscular disorders

الإتاحة: https://doi.org/10.1002/humu.22032Test
https://kclpure.kcl.ac.uk/portal/en/publications/c931578e-affa-48e1-8500-520da0bd2525Test
http://www.scopus.com/inward/record.url?scp=84862777349&partnerID=8YFLogxKTest

المؤلفون: Dias, Cristina, Sincan, Murat, Cherukuri, Praveen F., Rupps, Rosemarie, Huang, Yan, Briemberg, Hannah, Selby, Kathryn, Mullikin, James C., Markello, Thomas C., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.

المصدر: Dias , C , Sincan , M , Cherukuri , P F , Rupps , R , Huang , Y , Briemberg , H , Selby , K , Mullikin , J C , Markello , T C , Adams , D R , Gahl , W A & Boerkoel , C F 2012 , ' An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia ' , Human Mutation , vol. 33 , no. 4 , pp. 614-626 . https://doi.org/10.1002/humu.22032Test

مصطلحات موضوعية: CAPN3, Clinical genetic testing, Exome, HSP, LGMD, Neuromuscular disorders

الإتاحة: https://doi.org/10.1002/humu.22032Test
https://kclpure.kcl.ac.uk/portal/en/publications/an-analysis-of-exome-sequencing-for-diagnostic-testing-of-the-genes-associated-with-muscle-disease-and-spastic-paraplegiaTest(c931578e-affa-48e1-8500-520da0bd2525).html
http://www.scopus.com/inward/record.url?scp=84862777349&partnerID=8YFLogxKTest

المؤلفون: Gomez, Keith, Laffan, Mike, Keeney, Steve, Sutherland, Megan, Curry, Nikki, Lunt, Peter

المصدر: Gomez , K , Laffan , M , Keeney , S , Sutherland , M , Curry , N & Lunt , P 2019 , ' Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper ' , Haemophilia , vol. 25 , no. 1 , pp. 116-126 . https://doi.org/10.1111/hae.13637Test

مصطلحات موضوعية: clinical genetic testing, consent for genetic testing, genetic interpretation, genetic reporting, inherited bleeding disorders, sequence variant terminology

العلاقة: https://research-information.bris.ac.uk/en/publications/144250cb-dd02-4880-9e4e-0a0479817bd1Test

الإتاحة: https://doi.org/10.1111/hae.13637Test
https://hdl.handle.net/1983/144250cb-dd02-4880-9e4e-0a0479817bd1Test
https://research-information.bris.ac.uk/en/publications/144250cb-dd02-4880-9e4e-0a0479817bd1Test
http://www.scopus.com/inward/record.url?scp=85060205115&partnerID=8YFLogxKTest

المؤلفون: Otter, Maarten, Stumpel, Constance, van Amelsvoort, Therese

المصدر: Otter , M , Stumpel , C & van Amelsvoort , T 2018 , ' Client-centred clinical genetic diagnostics ' , Advances in Mental Health and Intellectual Disabilities , vol. 12 , no. 1 , pp. 1-10 . https://doi.org/10.1108/AMHID-06-2017-0025Test

مصطلحات موضوعية: Quality of life, Shared decision-making, Behavioural phenotype of genetic syndromes, Clinical genetic diagnostics, Destigmatization, Physical examination in developmental delay, TRIPLE X SYNDROME, INTELLECTUAL DISABILITY, DEVELOPMENTAL-DISABILITIES, PEDIATRIC NEUROLOGY, CHILDREN, 47,XXY, IDENTIFICATION, INDIVIDUALS, CHROMOSOME, DISORDERS

الإتاحة: https://doi.org/10.1108/AMHID-06-2017-0025Test
https://cris.maastrichtuniversity.nl/en/publications/a5309164-41c2-4d94-b571-9d72be0b9aa6Test

المؤلفون: Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Bruggenwirth, Hennie T., Deprez, Ronald H. Lekanne, Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A., van den Wijngaard, Arthur, Waisfisz, Quinten, Nelen, Marcel R., van der Stoep, Nienke

المصدر: Weiss , M M , Van der Zwaag , B , Jongbloed , J D H , Vogel , M J , Bruggenwirth , H T , Deprez , R H L , Mook , O , Ruivenkamp , C A L , van Slegtenhorst , M A , van den Wijngaard , A , Waisfisz , Q , Nelen , M R & van der Stoep , N 2013 , ' Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories ' , Human Mutation , ....

مصطلحات موضوعية: NGS guidelines, clinical genetic laboratories, diagnostic yield, diagnostic routing

الإتاحة: https://doi.org/10.1002/humu.22368Test
https://cris.maastrichtuniversity.nl/en/publications/c9053422-da86-4a13-a6e2-5bef3569f6eeTest

المؤلفون: Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Bruggenwirth, Hennie T., Deprez, Ronald H. Lekanne, Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A., van den Wijngaard, Arthur, Waisfisz, Quinten, Nelen, Marcel R., van der Stoep, Nienke

المصدر: Weiss , M M , Van der Zwaag , B , Jongbloed , J D H , Vogel , M J , Bruggenwirth , H T , Deprez , R H L , Mook , O , Ruivenkamp , C A L , van Slegtenhorst , M A , van den Wijngaard , A , Waisfisz , Q , Nelen , M R & van der Stoep , N 2013 , ' Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics : A National Collaborative Study of Dutch Genome Diagnostic Laboratories ' , Human Mutation ....

مصطلحات موضوعية: NGS guidelines, clinical genetic laboratories, diagnostic yield, diagnostic routing, INTELLECTUAL DISABILITY, READ ALIGNMENT, MUTATIONS, GENETICS

العلاقة: https://research.rug.nl/en/publications/2708300f-11de-4767-a7e8-6da53fa943a6Test

الإتاحة: https://doi.org/10.1002/humu.22368Test
https://hdl.handle.net/11370/2708300f-11de-4767-a7e8-6da53fa943a6Test
https://research.rug.nl/en/publications/2708300f-11de-4767-a7e8-6da53fa943a6Test