Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases ; volume:15 ; number:1 ; day:14 ; month:12 ; year:2023 ; pages:1-16 ; date:12.2023
Genome medicine ; 15, Heft 1 (14.12.2023), 1-16, 12.2023

Creator: AlAbdi, Lama
Shamseldin, Hanan E.
Khouj, Ebtissal
Helaby, Rana
Aljamal, Bayan
Alqahtani, Mashael
Almulhim, Aisha
Hamid, Halima
Hashem, Mais O.
Abdulwahab, Firdous
Abouyousef, Omar
Jaafar, Amal
Alshidi, Tarfa
Al-Owain, Mohammed
Alhashem, Amal
Al Tala, Saeed
Khan, Arif O.
Mardawi, Elham
Alkuraya, Hisham
Faqeih, Eissa
Afqi, Manal
Alkhalifi, Salwa
Rahbeeni, Zuhair
Hagos, Samya T.
Al-Ahmadi, Wijdan
Nadeef, Seba
Maddirevula, Sateesh
Khabar, Khalid S. A.
Putra, Alexander
Angelov, Angel
Park, Changsook
Reyes-Ramos, Ana M.
Umer, Husen
Ullah, Ikram
Driguez, Patrick
Fukasawa, Yoshinori
Cheung, Ming Sin
Gallouzi, Imed Eddine
Alkuraya, Fowzan S.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13073-023-01270-8

URN: urn:nbn:de:101:1-2024022914081755811388

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:57 AM CEST

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Associated

AlAbdi, Lama
Shamseldin, Hanan E.
Khouj, Ebtissal
Helaby, Rana
Aljamal, Bayan
Alqahtani, Mashael
Almulhim, Aisha
Hamid, Halima
Hashem, Mais O.
Abdulwahab, Firdous
Abouyousef, Omar
Jaafar, Amal
Alshidi, Tarfa
Al-Owain, Mohammed
Alhashem, Amal
Al Tala, Saeed
Khan, Arif O.
Mardawi, Elham
Alkuraya, Hisham
Faqeih, Eissa
Afqi, Manal
Alkhalifi, Salwa
Rahbeeni, Zuhair
Hagos, Samya T.
Al-Ahmadi, Wijdan
Nadeef, Seba
Maddirevula, Sateesh
Khabar, Khalid S. A.
Putra, Alexander
Angelov, Angel
Park, Changsook
Reyes-Ramos, Ana M.
Umer, Husen
Ullah, Ikram
Driguez, Patrick
Fukasawa, Yoshinori
Cheung, Ming Sin
Gallouzi, Imed Eddine
Alkuraya, Fowzan S.
SpringerLink (Online service)

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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

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Other Objects (12)

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Whole exome sequencing confirms molecular diagnostics of three Pakhtun families with autosomal recessive epidermolysis Bullosa

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Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

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SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Whole exome sequencing confirms molecular diagnostics of three Pakhtun families with autosomal recessive epidermolysis Bullosa

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

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Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

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