Associated Papers
Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.
Moyal M et al.
European Psychiatry : the Journal of the Association of European Psychiatrists, 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
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Hama R et al.
Human Genome Variation, 2021
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Xiao Q et al.
Npj Genomic Medicine, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
Lee IH et al.
Human Mutation, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.
Minarik L et al.
Folia Biologica, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Catatonia in Children and Adolescents: A High Rate of Genetic Conditions.
Raffin M et al.
Journal of the American Academy of Child and Adolescent Psychiatry, 2018
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
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma.
Luykx JJ et al.
Molecular Psychiatry, 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
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
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G et al.
Human Molecular Genetics, 2007
Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis.
Li D et al.
European Journal of Human Genetics : Ejhg, 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
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
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
Jacquet H et al.
Human Molecular Genetics, 2002