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6. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid BM; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström AC; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A Genome Med; 2021 Mar; 13(1):40. PubMed ID: 33726816 [TBL] [Abstract][Full Text] [Related]
7. Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy. Wang Y; Xu Y; Zhou C; Cheng Y; Qiao N; Shang Q; Xia L; Song J; Gao C; Qiao Y; Zhang X; Li M; Ma C; Fan Y; Peng X; Wu S; Lv N; Li B; Sun Y; Zhang B; Li T; Li H; Zhang J; Su Y; Li Q; Yuan J; Liu L; Moreno-De-Luca A; MacLennan AH; Gecz J; Zhu D; Wang X; Zhu C; Xing Q Nat Med; 2024 May; 30(5):1395-1405. PubMed ID: 38693247 [TBL] [Abstract][Full Text] [Related]
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9. Post-implantation analysis of genomic variations in the progeny from developing fetus to birth. Zheng Y; Lin C; Wang WJ; Wang L; Qian Y; Mao L; Li B; Lou L; Mao Y; Li N; Zheng J; Jiang N; He C; Wang Q; Zhou Q; Chen F; Jin F Hum Genomics; 2024 Jul; 18(1):79. PubMed ID: 39010135 [TBL] [Abstract][Full Text] [Related]
10. Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing. Dai H; Ketkar S; Tan T; Atkinson EG; Burrage L; Worley KC; Christopher B; Lyons MA; Assassi S; Mayes MD; Lee B Hum Mol Genet; 2024 Sep; 33(19):1643-1647. PubMed ID: 38970828 [TBL] [Abstract][Full Text] [Related]
11. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722 [TBL] [Abstract][Full Text] [Related]
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16. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999 [TBL] [Abstract][Full Text] [Related]
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19. [Genetic analysis of 10 children with cerebral palsy]. Zhu Q; Ni Y; Wang J; Yin H; Zhang Q; Bian W; Zhang L; Lin M; Liu J; Zhou J; Sha C; Zhou X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):229-233. PubMed ID: 30835352 [TBL] [Abstract][Full Text] [Related]
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