Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inv...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Mizuguchi, Takeshi [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021transfer abstract |
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| Umfang: |
10 |
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| Übergeordnetes Werk: |
Enthalten in: Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt - Redwan, Mostafa ELSEVIER, 2017transfer abstract, an international journal for analysis of the human and other genomes, San Diego, Calif |
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| Übergeordnetes Werk: |
volume:113 ; year:2021 ; number:1 ; pages:1044-1053 ; extent:10 |
| Links: |
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| DOI / URN: |
10.1016/j.ygeno.2020.10.038 |
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| 245 | 1 | 0 | |a Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing |
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| 520 | |a We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. | ||
| 520 | |a We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. | ||
| 700 | 1 | |a Okamoto, Nobuhiko |4 oth | |
| 700 | 1 | |a Yanagihara, Keiko |4 oth | |
| 700 | 1 | |a Miyatake, Satoko |4 oth | |
| 700 | 1 | |a Uchiyama, Yuri |4 oth | |
| 700 | 1 | |a Tsuchida, Naomi |4 oth | |
| 700 | 1 | |a Hamanaka, Kohei |4 oth | |
| 700 | 1 | |a Fujita, Atsushi |4 oth | |
| 700 | 1 | |a Miyake, Noriko |4 oth | |
| 700 | 1 | |a Matsumoto, Naomichi |4 oth | |
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10.1016/j.ygeno.2020.10.038 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001821.pica (DE-627)ELV052860698 (ELSEVIER)S0888-7543(20)31997-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Mizuguchi, Takeshi verfasserin aut Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing 2021transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. Okamoto, Nobuhiko oth Yanagihara, Keiko oth Miyatake, Satoko oth Uchiyama, Yuri oth Tsuchida, Naomi oth Hamanaka, Kohei oth Fujita, Atsushi oth Miyake, Noriko oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:113 year:2021 number:1 pages:1044-1053 extent:10 https://doi.org/10.1016/j.ygeno.2020.10.038 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 113 2021 1 1044-1053 10 |
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10.1016/j.ygeno.2020.10.038 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001821.pica (DE-627)ELV052860698 (ELSEVIER)S0888-7543(20)31997-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Mizuguchi, Takeshi verfasserin aut Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing 2021transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. Okamoto, Nobuhiko oth Yanagihara, Keiko oth Miyatake, Satoko oth Uchiyama, Yuri oth Tsuchida, Naomi oth Hamanaka, Kohei oth Fujita, Atsushi oth Miyake, Noriko oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:113 year:2021 number:1 pages:1044-1053 extent:10 https://doi.org/10.1016/j.ygeno.2020.10.038 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 113 2021 1 1044-1053 10 |
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10.1016/j.ygeno.2020.10.038 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001821.pica (DE-627)ELV052860698 (ELSEVIER)S0888-7543(20)31997-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Mizuguchi, Takeshi verfasserin aut Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing 2021transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. Okamoto, Nobuhiko oth Yanagihara, Keiko oth Miyatake, Satoko oth Uchiyama, Yuri oth Tsuchida, Naomi oth Hamanaka, Kohei oth Fujita, Atsushi oth Miyake, Noriko oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:113 year:2021 number:1 pages:1044-1053 extent:10 https://doi.org/10.1016/j.ygeno.2020.10.038 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 113 2021 1 1044-1053 10 |
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10.1016/j.ygeno.2020.10.038 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001821.pica (DE-627)ELV052860698 (ELSEVIER)S0888-7543(20)31997-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Mizuguchi, Takeshi verfasserin aut Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing 2021transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. Okamoto, Nobuhiko oth Yanagihara, Keiko oth Miyatake, Satoko oth Uchiyama, Yuri oth Tsuchida, Naomi oth Hamanaka, Kohei oth Fujita, Atsushi oth Miyake, Noriko oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:113 year:2021 number:1 pages:1044-1053 extent:10 https://doi.org/10.1016/j.ygeno.2020.10.038 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 113 2021 1 1044-1053 10 |
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10.1016/j.ygeno.2020.10.038 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001821.pica (DE-627)ELV052860698 (ELSEVIER)S0888-7543(20)31997-2 DE-627 ger DE-627 rakwb eng 550 VZ 620 VZ 55.50 bkl 55.60 bkl 55.60 bkl Mizuguchi, Takeshi verfasserin aut Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing 2021transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. Okamoto, Nobuhiko oth Yanagihara, Keiko oth Miyatake, Satoko oth Uchiyama, Yuri oth Tsuchida, Naomi oth Hamanaka, Kohei oth Fujita, Atsushi oth Miyake, Noriko oth Matsumoto, Naomichi oth Enthalten in Academic Press Redwan, Mostafa ELSEVIER Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt 2017transfer abstract an international journal for analysis of the human and other genomes San Diego, Calif (DE-627)ELV020260245 volume:113 year:2021 number:1 pages:1044-1053 extent:10 https://doi.org/10.1016/j.ygeno.2020.10.038 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-AST 55.50 Luftfahrzeugtechnik VZ 55.60 Raumfahrttechnik VZ 55.60 Raumfahrttechnik VZ AR 113 2021 1 1044-1053 10 |
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Enthalten in Flood hazard assessment and heavy metal distributions around Um Gheig mine area, Eastern Desert, Egypt San Diego, Calif volume:113 year:2021 number:1 pages:1044-1053 extent:10 |
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pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing |
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Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing |
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We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. |
| abstractGer |
We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. |
| abstract_unstemmed |
We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisely identified by HiFi LR-GS after trio-based variant filtering. This inversion directly disrupted two genes, CPNE9 and BRPF1, the latter of which attracted our attention because pathogenic BRPF1 variants have been identified in autosomal dominant intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP), which later turned out to be clinically found in the twins. Trio-based HiFi LR-GS together with haplotype phasing revealed that the 12-kb inversion occurred de novo on the maternally transmitted chromosome. This study clearly indicates that submicroscopic copy-neutral inversions are important but often uncharacterized culprits in monogenic disorders and that long-read sequencing is highly advantageous for detecting such inversions involved in genetic diseases. |
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Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing |
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Okamoto, Nobuhiko Yanagihara, Keiko Miyatake, Satoko Uchiyama, Yuri Tsuchida, Naomi Hamanaka, Kohei Fujita, Atsushi Miyake, Noriko Matsumoto, Naomichi |
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