Associated Papers
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
El-Dessouky SH et al.
Prenatal Diagnosis, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.
Li J et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ et al.
Plos Genetics, 2023
Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Marchesani F et al.
Biomolecules, 2023
Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.
Xie MJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Prenatal Diagnosis of Neu-Laxova Syndrome.
Serrano Olave A et al.
Diagnostics (basel, Switzerland), 2022
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Abdelfattah F et al.
Human Mutation, 2020
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Sirr A et al.
Journal of Inherited Metabolic Disease, 2020
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L et al.
Plos One, 2018
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R et al.
American Journal of Human Genetics, 2014