P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability

P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability

Saved in:

Bibliographic Details
Main Authors:	Jan Verheijen, John O'Shea, Steven Boyden, Thomas Nicholas, Erin Baldwin, Ashley Andrews, Lorenzo Botto, David Viskochil, Russell Butterfield, Pinar Bayrak-Toydemir, Rong Mao
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425011938
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

P784: Novel de novo KAT6A variant in a pediatric patient with multisystem involvement
by: Chaofan Zhang, et al.
Published: (2025-01-01)

P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders
by: Robert Lewis, et al.
Published: (2025-01-01)

Premature termination codon: a tunable protein translation approach
by: Xiyao Cheng, et al.
Published: (2022-08-01)

P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease
by: John O'Shea, et al.
Published: (2025-01-01)

Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough
by: Kathleen L. Miao, et al.
Published: (2025-08-01)

Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
by: Stephanie Maiwald, et al.
Published: (2014-01-01)

Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough.
by: Sara Hosseini-Farahabadi, et al.
Published: (2021-05-01)

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing
by: Ting Wen, et al.
Published: (2025-05-01)

A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays.
by: Stuart P McElroy, et al.
Published: (2013-01-01)

Constructing ORFeome resources with removable termination codons
by: Masayoshi Itoh, et al.
Published: (2006-07-01)

CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency
by: Yujiro Yoshizaki, et al.
Published: (2024-12-01)

py_ped_sim: a flexible forward pedigree and genetic simulator for complex family pedigree analysis
by: Miguel Guardado, et al.
Published: (2025-05-01)

Algorithms for comparing large pedigree graphs
by: Nahla A. Belal, et al.
Published: (2022-06-01)

The Role of Pedigree Charting and Analysis in Ophthalmology
by: Ria Ratna, et al.
Published: (2023-01-01)

Pont-l’Abbé (Finistère). Contournement sud : projet routier entre RD785 et RD2
by: Ronan Perennec
Published: (2008-12-01)

FIRST RESULTS OF CHD PROGNOSIS STUDY
by: E. A. Gofman, et al.
Published: (2014-07-01)

Neurological Birdsong By A. J. Lees. Mirabeau Press. 2024. £7.85 (pb). 134 pp. ISBN 9781735705569
by: Adam Polnay
Published: (2025-06-01)

Les premières mosquées et la transformation des sanctuaires wisigothiques (92H/711-170H/785)
by: Susana Calvo Capilla
Published: (2011-11-01)

Machine learning for genomic and pedigree prediction in sugarcane
by: Minoru Inamori, et al.
Published: (2024-09-01)

Pedigree reconstruction based on genotype data in chickens
by: Yan Zhou, et al.
Published: (2024-12-01)

Recoding the Codon Usage of fis Gene of Pasteurella multocida with Rare Codons Reduces Pathogenicity
by: Ajeet Kumar, et al.
Published: (2025-06-01)

CodonTransformer: a multispecies codon optimizer using context-aware neural networks
by: Adibvafa Fallahpour, et al.
Published: (2025-04-01)

Lung Adenocarcinoma Expressing an EML4‐ALK Fusion Transcript With Premature Stop Codons and Response to Alectinib: A Case Report
by: Mami Ozaki, et al.
Published: (2025-08-01)

Notes on Brachyonychus Chd. (Coleoptera, Carabidae, Panagaeini)
by: P. J. Darlington
Published: (1952-01-01)

The influence of pig breed and pedigree on the quality characteristics of meat
by: Pankova E.K., et al.
Published: (2025-01-01)

Parents of Children with Congenital Heart Disease (CHD): A Narrative Study of the Social and Clinical Impact of CHD Diagnosis on Their Role and Health
by: Christian Moro, et al.
Published: (2025-02-01)

Genetic analysis for an inherited coagulation factor XII deficiency pedigree
by: Conglian Wu, et al.
Published: (2025-12-01)

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees
by: ChangQing Liu, et al.
Published: (2025-07-01)

Bayesian linkage analysis of categorical traits for arbitrary pedigree designs.
by: Abra Brisbin, et al.
Published: (2010-08-01)

Pedigree analysis of the Latvian Warmblood horse heavy type population
by: Viktorija Nikonova, et al.
Published: (2024-11-01)

Pedigree-Based Description of Danubia Alba Rabbit Breed Lines
by: János Posta, et al.
Published: (2024-09-01)

Internally Harmonic Matched Compact GaN Power Amplifier with 78.5% PAE for 2.45 GHz Wireless Power Transfer Systems
by: Caoyu Li, et al.
Published: (2024-11-01)

Genealogical analysis of pedigree heifers of the Flekvieh breed imported from Germany
by: Giloyan G.H., et al.
Published: (2025-01-01)

Analysis of Population Structure in Hungarian Coldblood Horses Based on Pedigree Information
by: Brigitta Barsi, et al.
Published: (2025-05-01)

SAAZ—Fine Aroma Hop Pedigree: A Review of Current Knowledge
by: Jana Olšovská, et al.
Published: (2024-09-01)

Improved computation of genomic and pedigree inbreeding and relationships accounting for the X chromosome
by: Juan P. Nani, et al.
Published: (2025-06-01)

Vascular wall structure and function in patients with CHD, AH, and their combination
by: V. K. Fedulov, et al.
Published: (2011-02-01)

Materials of the congress CHD and peripheral atherosclerosis treatment in diabetic patients
by: Victor Yur'evich Kalashnikov, et al.
Published: (2012-03-01)

Selection of Early Life Codons by Ultraviolet Light
by: Corinna L. Kufner, et al.
Published: (2025-01-01)

Predicting viral host codon fitness and path shifting through tree-based learning on codon usage biases and genomic characteristics
by: Shuquan Su, et al.
Published: (2025-04-01)