Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.
Wang Z et al.
Genetics Research, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.
Ong TL et al.
Movement Disorders Clinical Practice, 2023
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL et al.
Kidney International Reports, 2022
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
Yang Y et al.
The Application of Clinical Genetics, 2022
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
Namavar Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R et al.
Clinical Genetics, 2020
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line.
Cappelletti P et al.
Plos One, 2018
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Cho Y et al.
Scientific Reports, 2017
Proline dehydrogenase promotes senescence through the generation of reactive oxygen species.
Nagano T et al.
Journal of Cell Science, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
Biochemical and clinical features of hereditary hyperprolinemia.
Mitsubuchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
PRODH polymorphisms, cortical volumes and thickness in schizophrenia.
Ota VK et al.
Plos One, 2014
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A et al.
Human Mutation, 2010
Inborn errors of proline metabolism.
Mitsubuchi H et al.
The Journal of Nutrition, 2008
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
Di Rosa G et al.
Psychiatric Genetics, 2008
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A et al.
Brain & Development, 2007
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G et al.
Human Molecular Genetics, 2007
Hyperprolinemia is a risk factor for schizoaffective disorder.
Jacquet H et al.
Molecular Psychiatry, 2005
Functional consequences of PRODH missense mutations.
Bender HU et al.
American Journal of Human Genetics, 2005
The molecular genetics of the 22q11-associated schizophrenia.
Karayiorgou M et al.
Brain Research. Molecular Brain Research, 2004
Structures of the Escherichia coli PutA proline dehydrogenase domain in complex with competitive inhibitors.
Zhang M et al.
Biochemistry, 2004
Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia.
Williams HJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2003
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
Jacquet H et al.
Journal of Medical Genetics, 2003
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
Jacquet H et al.
Human Molecular Genetics, 2002