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Keywords: Whole-exome sequencing
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Journal Articles
Subject Area:
Genetics
Mol Syndromol (2024)
Published Online: 14 December 2024
... with JBTS33 diagnosed through whole-exome sequencing. A novel biallelic homozygous nonsense mutation (ENST00000326291.11: c.1231C>T; p.Arg411Ter) in progesterone-induced blocking factor 1 (PIBF1) was identified. Results: Our study included 3 patients with the same homozygous mutation in PIBF1, which...
Journal Articles
Subject Area:
Genetics
Mol Syndromol 1–7.
Published Online: 10 December 2024
... by echocardiography. His sibling presented with similar features, including severe developmental delay and dilated cardiomyopathy. Whole-exome sequencing identified a homozygous likely pathogenic c.7645C>T (p.Gln2549Ter) variant in the HERC2 gene. This case report is significant as it describes dilated...
Journal Articles
Subject Area:
Genetics
Mol Syndromol 1–7.
Published Online: 29 November 2024
.... To elucidate the genetic cause of SRD, the patient was analyzed by whole-exome sequencing (WES) followed by mutation analysis. Methods: A complete clinical examination was performed by a pediatric neurologist. Brain imaging and a thorough neuro-metabolic investigation were applied along with biochemical tests...
Journal Articles
Journal Articles
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Journal Articles
Subject Area:
Genetics
Mol Syndromol 1–9.
Published Online: 26 September 2024
... clinical examination, laboratory tests, and imaging studies. Physical examination revealed extremity findings (brachydactyly, tapering fingers). Single whole-exome sequencing analysis was performed for clinical diagnosis. A novel missense variant, c.368T>A (p.Leu123Gln) in CUL3 , was discovered...
Journal Articles
Subject Area:
Genetics
Mol Syndromol (2024) 15 (6): 464–473.
Published Online: 14 June 2024
... the genetic change responsible for the emergence of the disease and to make a genotype-phenotype correlation. Methods: In this study, we evaluated single nucleotide gene variants in three families ( n = 6 patients) with bipolar disorder using whole-exome sequencing. Results: Seven genes ( TMTC1 , DGKH...
Journal Articles
Subject Area:
Genetics
Mol Syndromol (2024) 15 (5): 380–388.
Published Online: 30 April 2024
... comprehensive clinical evaluation, followed by whole-exome sequencing (WES) coupled with copy number analysis (CNV), aimed at identifying potential disease-causing variants aligning with the observed phenotype. Results: Our findings detail an individual exhibiting developmental delay, hearing loss, visual...
Journal Articles
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Journal Articles
Journal Articles
Mol Syndromol (2023) 14 (3): 201–207.
Published Online: 06 June 2023
... variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B. Results: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B. Conclusion: In conclusion...
Journal Articles
Mol Syndromol (2023) 14 (3): 225–230.
Published Online: 06 June 2023
... with the autosomal recessive disorder postaxial polydactyly type A7 (PAPA7, MIM #617642). Case Presentation: A 3-year-old female patient was referred to our genetics department with postaxial polydactyly, syndactyly, brachydactyly, and hypoplastic teeth. Through whole-exome sequencing (WES), a pathogenic IQCE...
Journal Articles
Journal Articles
Subject Area:
Genetics
Mol Syndromol (2024) 15 (1): 43–50.
Published Online: 26 May 2023
... was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM_177559.3 ( CSNK2A1 ):c.1139_1140dupGG (p.Met381GlyfsTer32) variant in the CSNK2A1 gene from a whole-exome sequence analysis. Conclusion...
Journal Articles
Mol Syndromol (2023) 14 (5): 433–438.
Published Online: 09 May 2023
... testing as first-tier analyses, but increasing evidence supports the use of whole-exome sequencing (WES) analysis for the diagnosis of NDD [Srivastava et al., 2019]. In fact, the reported diagnostic yield of WES analysis in individuals with autism spectrum disorder (ASD), a condition belonging to the NDD...
Journal Articles
Journal Articles