Associated Papers
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Hama R et al.
Human Genome Variation, 2021
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
Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech Disturbance.
Ersoy M et al.
Indian Journal of Pediatrics, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Proline dehydrogenase promotes senescence through the generation of reactive oxygen species.
Nagano T et al.
Journal of Cell Science, 2017
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Richard AC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor NM et al.
Mayo Clinic Proceedings, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
Long-term neuropsychiatric follow-up in hyperprolinemia type I.
Di Rosa G et al.
Psychiatric 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
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.
Jang MA et al.
Annals of Clinical and Laboratory Science, 2013
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
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 not associated with childhood onset schizophrenia.
Jacquet H et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006
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
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
Jacquet H et al.
Human Molecular Genetics, 2002