• "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
• 11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?
• A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
• A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction
• A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
• A Fetus with Maternal Uniparental Disomy on Chromosome 20: Case Report with Genetic Analysis and Prenatal Diagnosis
• A gut microbiota rheostat forecasts responsiveness to PD-L1 and VEGF blockade in mesothelioma
• A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus
• Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature
• An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report
• An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria
• Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study
• Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues
• Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs
• Approach to the patient with suspected Silver-Russell syndrome
• Automatized detection of uniparental disomies in a large cohort
• Beckwith-Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature
• Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
• Bone health in children with Angelman syndrome at the ENCORE Expertise Center
• Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights
• Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in <em>PARD6G-AS1</em> promotor in a case with arthrogryposis
• Case report: Paternal uniparental disomy on chromosome 7 and homozygous <em>SUGCT</em> mutation in a fetus with overweight after birth
• Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth
• Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing
• Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
• Clinical and genetic analysis of a child with maternal uniparental disomy of chromosome 20
• Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism
• Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses
• Clinical features associated with maternal uniparental disomy for chromosome 6
• Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A
• Clinical Significance of Application of Chromosomal Karyotyping of Villus Tissues
• Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
• Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
• Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
• Copy number variation sequencing for the products of conception: What is the optimal testing strategy
• Correction to "Uniparental disomy of multiple chromosomes in two cases with a complex phenotype"
• Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism
• Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome
• Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome
• Developmental milestones and daily living skills in individuals with Angelman syndrome
• Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
• Effect of uniparental disomy in parentage testing
• Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
• Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders
• False negative non-invasive prenatal testing (NIPT) result for trisomy 7 and false positive NIPT result for trisomy 2 in a pregnancy associated with low-level mosaic trisomy 7 at amniocentesis and a favorable outcome
• Fetus Conceived via In Vitro Fertilization With Mosaic Uniparental Isodisomy and Two Balanced Translocations
• Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19
• Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient
• Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies
• Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
• Genetic origin analysis of regions of homozygosity in three cases
• Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report
• Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing
• Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
• Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey
• Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China
• Genotype-phenotype correlation over time in Angelman syndrome: researching 134 patients
• High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation
• Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review
• Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
• Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
• Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases
• Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
• Isolated polyhydramnios: Is a genetic evaluation of value?
• Large regions of homozygosity in prenatal diagnosis
• Leukemic conversion involving <em>RAS</em> mutations of type 1 <em>CALR</em>-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report
• Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal o
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
• Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome
• Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review
• Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature
• Mosaic distal 10q deletion or 46,XY,del(10) (q26.13)/46,XY at amniocentesis and cordocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cel
• Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
• Mosaicism for Autosomal Trisomies: A Comprehensive Analysis of 1266 Published Cases Focusing on Maternal Age and Reproductive History
• MPO Expression of Background Neutrophils in MPO Negative Acute Promyelocytic Leukemia, An Easy Clue to Corroborate a Challenging Diagnosis: A Case Report and Review of Literature
• National Rapid Genome Sequencing in Neonatal Intensive Care
• Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias
• Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases
• Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes
• Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?
• Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
• Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study
• Prevalence and genotypic associations of epilepsy in Prader-Willi Syndrome: A systematic review and meta-analysis
• Prevalence of high-penetrant copy number variants in 7,734 low-risk pregnancies
• Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies
• Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenology
• Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
• Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome
• Small supernumerary marker chromosomes derived from human chromosome 11
• SNCA-Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy
• Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review
• The importance of early recognition of Prader-Willi syndrome
• The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder
• Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
• Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene
• Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes
• Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15
• Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I