Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN-Reference-Cited by-同舟云学术

Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN

Published:2024-05-21 Issue:1 Volume:299 Page:
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Afridi Tehseen Ullah Khan^ORCID,Fatima Ambrin,Satti Humayoon Shafique^ORCID,Akram Zaineb,Yousafzai Imran Khan,Naeem Wajahat Bin,Fatima Nasreen,Ali Asmat,Iqbal Zafar^ORCID,Khan Ayaz,Shahzad Muhammad,Liu Chunyu,Toft Mathias,Zhang Feng,Tariq Muhammad,Davis Erica E.^ORCID,Khan Tahir N.^ORCID

Funder

Higher Education Commision, Pakistan

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00438-024-02149-y.pdf

Reference48 articles.

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3. Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, Azevedo L (2019) Essential genetic findings in neurodevelopmental disorders. Hum Genomics 13(1):31. https://doi.org/10.1186/s40246-019-0216-4

4. Carter MT, Srour M, Au PB, Buhas D, Dyack S, Eaton A, Inbar-Feigenberg M, Howley H, Kawamura A, Lewis SME, McCready E, Nelson TN, Vallance H (2023) Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). J Med Genet 60(6):523–532. https://doi.org/10.1136/jmg-2022-108962

5. Chen S, Zhou Y, Chen Y, Gu J (2018) fastp: an ultra-fast all-in-one FASTQ preprocessor. Bioinformatics 34(17):i884–i890. https://doi.org/10.1093/bioinformatics/bty560