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

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

Umfang: 1 Online-Ressource.

Sprache: Englisch

Erschienen in: 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

Urheber: 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.

Beteiligte Personen und Organisationen: SpringerLink (Online service)

DOI: 10.1186/s13073-023-01270-8

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

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

Letzte Aktualisierung: 14.08.2025, 10:57 MESZ

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Beteiligte

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

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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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