المصدر: Nature Genetics vol.54 (2022) nr.10 p.1564-1571 [ISSN 1061-4036]

مصطلحات الفهرس: Genome, Human/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, INDEL Mutation/genetics, Neurons, Nucleotides, Point Mutation, Polymorphism, Single Nucleotide/genetics, Single-Cell Analysis, Artikel, Article

URL: https://pure.knaw.nl/portal/en/publications/c32b40db-e719-45a1-8319-adee9a8a4292Test

المصدر: Baldassari , S , Picard , F , Verbeek , N E , van Kempen , M , Brilstra , E H , Lesca , G , Conti , V , Guerrini , R , Bisulli , F , Licchetta , L , Pippucci , T , Tinuper , P , Hirsch , E , de Saint Martin , A , Chelly , J , Rudolf , G , Chipaux , M , Ferrand-Sorbets , S , Dorfmüller , G , Sisodiya , S , Balestrini , S , Schoeler , N , Hernandez-Hernandez , L , Krithika , S , Oegema , R , Hagebeuk , E , Gunning , B , Deckers , C , Berghuis , B , Wegner , I , Niks , E , Jansen , F E , Braun , K , de Jong , D , Rubboli , G , Talvik , I , Sander , V , Uldall , P , Jacquemont , M-L , Nava , C , Leguern , E , Julia , S , Gambardella , A , d'Orsi , G , Crichiutti , G , Faivre , L , Darmency , V , Benova , B , Krsek , P , Biraben , A , Lebre , A-S , Jennesson , M , Sattar , S , Marchal , C , Nordli , D R , Lindstrom , K , Striano , P , Lomax , L B , Kiss , C , Bartolomei , F , Lepine , A F , Schoonjans , A-S , Stouffs , K , Jansen , A , Panagiotakaki , E , Ricard-Mousnier , B , Thevenon , J , de Bellescize , J , Catenoix , H , Dorn , T , Zenker , M , Müller-Schlüter , K , Brandt , C , Krey , I , Polster , T , Wolff , M , Balci , M , Rostasy , K , Achaz , G , Zacher , P , Becher , T , Cloppenborg , T , Yuskaitis , C J , Weckhuysen , S , Poduri , A , Lemke , J R , Møller , R S & Baulac , S 2019 , ' The landscape of epilepsy-related GATOR1 variants ' , Genetics In Medicine , vol. 21 , no. 2 , pp. 398-408 .

مصطلحات الفهرس: Adolescent, Brugada Syndrome/genetics, Child, Child, Preschool, DNA Copy Number Variations/genetics, Epilepsy/complications, Female, GTPase-Activating Proteins/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/genetics, Infant, Infant, Newborn, Loss of Function Mutation/genetics, Male, Mechanistic Target of Rapamycin Complex 1/genetics, Multiprotein Complexes/genetics, Pedigree, Repressor Proteins/genetics, Seizures/complications, Signal Transduction/genetics, Tumor Suppressor Proteins/genetics, article

URL: https://curis.ku.dk/portal/da/publications/the-landscape-of-epilepsyrelated-gator1-variantsTest(38020661-64e8-45ed-bc0c-a6ec60380e45).html
https://doi.org/10.1038/s41436-018-0060-2Test
https://curis.ku.dk/ws/files/234700911/s41436_018_0060_2.pdfTest

المصدر: Baldassari , S , Picard , F , Verbeek , N E , van Kempen , M , Brilstra , E H , Lesca , G , Conti , V , Guerrini , R , Bisulli , F , Licchetta , L , Pippucci , T , Tinuper , P , Hirsch , E , de Saint Martin , A , Chelly , J , Rudolf , G , Chipaux , M , Ferrand-Sorbets , S , Dorfmüller , G , Sisodiya , S , Balestrini , S , Schoeler , N , Hernandez-Hernandez , L , Krithika , S , Oegema , R , Hagebeuk , E , Gunning , B , Deckers , C , Berghuis , B , Wegner , I , Niks , E , Jansen , F E , Braun , K , de Jong , D , Rubboli , G , Talvik , I , Sander , V , Uldall , P , Jacquemont , M-L , Nava , C , Leguern , E , Julia , S , Gambardella , A , d'Orsi , G , Crichiutti , G , Faivre , L , Darmency , V , Benova , B , Krsek , P , Biraben , A , Lebre , A-S , Jennesson , M , Sattar , S , Marchal , C , Nordli , D R , Lindstrom , K , Striano , P , Lomax , L B , Kiss , C , Bartolomei , F , Lepine , A F , Schoonjans , A-S , Stouffs , K , Jansen , A , Panagiotakaki , E , Ricard-Mousnier , B , Thevenon , J , de Bellescize , J , Catenoix , H , Dorn , T , Zenker , M , Müller-Schlüter , K , Brandt , C , Krey , I , Polster , T , Wolff , M , Balci , M , Rostasy , K , Achaz , G , Zacher , P , Becher , T , Cloppenborg , T , Yuskaitis , C J , Weckhuysen , S , Poduri , A , Lemke , J R , Møller , R S & Baulac , S 2019 , ' The landscape of epilepsy-related GATOR1 variants ' , Genetics In Medicine , vol. 21 , no. 2 , pp. 398-408 .

مصطلحات الفهرس: Adolescent, Brugada Syndrome/genetics, Child, Child, Preschool, DNA Copy Number Variations/genetics, Epilepsy/complications, Female, GTPase-Activating Proteins/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/genetics, Infant, Infant, Newborn, Loss of Function Mutation/genetics, Male, Mechanistic Target of Rapamycin Complex 1/genetics, Multiprotein Complexes/genetics, Pedigree, Repressor Proteins/genetics, Seizures/complications, Signal Transduction/genetics, Tumor Suppressor Proteins/genetics, article

URL: https://curis.ku.dk/portal/da/publications/the-landscape-of-epilepsyrelated-gator1-variantsTest(38020661-64e8-45ed-bc0c-a6ec60380e45).html
https://doi.org/10.1038/s41436-018-0060-2Test
https://curis.ku.dk/ws/files/234700911/s41436_018_0060_2.pdfTest

المصدر: Wala , J A , Bandopadhayay , P , Greenwald , N F , O'Rourke , R , Sharpe , T , Stewart , C , Schumacher , S , Li , Y , Weischenfeldt , J , Yao , X , Nusbaum , C , Campbell , P , Getz , G , Meyerson , M , Zhang , C-Z , Imielinski , M & Beroukhim , R 2018 , ' SvABA : genome-wide detection of structural variants and indels by local assembly ' , Genome Research , vol. 28 , no. 4 , pp. 581-591 .

مصطلحات الفهرس: Databases, Genetic, Genome, Human/genetics, Genomic Structural Variation/genetics, Genomics, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation/genetics, Sequence Analysis, DNA, Sequence Deletion/genetics, Software, Virus Integration/genetics, article

URL: https://curis.ku.dk/portal/da/publications/svabaTest(1d21a00c-64a4-419c-bea0-b65c8c11cee7).html
https://doi.org/10.1101/gr.221028.117Test
https://curis.ku.dk/ws/files/215041199/Genome_Res._2018_Wala_581_91.pdfTest

المصدر: Wala , J A , Bandopadhayay , P , Greenwald , N F , O'Rourke , R , Sharpe , T , Stewart , C , Schumacher , S , Li , Y , Weischenfeldt , J , Yao , X , Nusbaum , C , Campbell , P , Getz , G , Meyerson , M , Zhang , C-Z , Imielinski , M & Beroukhim , R 2018 , ' SvABA : genome-wide detection of structural variants and indels by local assembly ' , Genome Research , vol. 28 , no. 4 , pp. 581-591 .

مصطلحات الفهرس: Databases, Genetic, Genome, Human/genetics, Genomic Structural Variation/genetics, Genomics, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation/genetics, Sequence Analysis, DNA, Sequence Deletion/genetics, Software, Virus Integration/genetics, article

URL: https://curis.ku.dk/portal/da/publications/svabaTest(1d21a00c-64a4-419c-bea0-b65c8c11cee7).html
https://doi.org/10.1101/gr.221028.117Test
https://curis.ku.dk/ws/files/215041199/Genome_Res._2018_Wala_581_91.pdfTest

المصدر: Skov , L , Schierup , M H , Danish Pan Genome Consortium , Sørensen , L M , Petersen , B , Sibbesen , J A , Liu , S , Belling , K G , Have , C T , Bork-Jensen , J , Hansen , T , Krogh , A , Sørensen , T I A , Pedersen , O B , Rasmussen , S , Kristiansen , K & Brunak , S 2017 , ' Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion ' , PLOS Genetics , vol. 13 , no. 8 , pp. e1006834 .

مصطلحات الفهرس: Chromosomes, Human, Y/genetics, Denmark, Evolution, Molecular, Fathers, Gene Conversion/genetics, Heterochromatin/genetics, Humans, INDEL Mutation/genetics, Infertility, Male/genetics, Inverted Repeat Sequences/genetics, Male, Nuclear Family, Phylogeny, Polymorphism, Single Nucleotide, article

URL: https://curis.ku.dk/portal/da/publications/analysis-of-62-hybrid-assembled-human-y-chromosomes-exposes-rapid-structural-changes-and-high-rates-of-gene-conversionTest(0a9598b4-4a0a-4a39-b6f6-7fdd1bb7aee5).html
https://doi.org/10.1371/journal.pgen.1006834Test