• "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
• A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
• Alstrom syndrome caused by maternal uniparental disomy
• Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results
• Case report: Disease phenotype associated with simultaneous biallelic mutations in <em>ABCA4</em> and <em>USH2A</em> due to uniparental disomy of chromosome 1
• Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
• Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing
• Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies
• Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome
• Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome
• Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
• Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses
• Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
• Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome
• Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature
• Copy number variation sequencing for the products of conception: What is the optimal testing strategy
• Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <em>ALOX12B</em> gene due to chromosome 17 mixed uniparental disomy
• Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
• Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome
• 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
• Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis
• Developmental milestones and daily living skills in individuals with Angelman syndrome
• Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
• Executive functioning in adolescents and adults with Silver-Russell syndrome
• Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates <em>LZTR1</em> in Disease Formation
• Expanding the Phenotype of B3GALNT2-Related Disorders
• First report of paternal uniparental disomy of chromosome 8 with <em>SLC52A2</em> mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations
• First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations
• First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
• From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research
• Gender bias in fetal malformations: A cross-sectional study in Asian populations
• Genetic analysis of recurrent parthenogenesis: A case report and literature review
• Genotype-Phenotype Correlations in Angelman Syndrome
• Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
• High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound
• Homozygosity for a Novel <em>DOCK7</em> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
• Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
• Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review
• Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
• Hyperprolactinemia in Adults with Prader-Willi Syndrome
• Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <em>ALOX12B</em> gene due to chromosome 17 mixed uniparental disomy
• Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
• Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
• Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
• Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
• iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
• Late first-trimester ultrasound findings can alter management after high-risk NIPT result
• 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
• Loss of Heterozygosity in the Tumor DNA of De Novo Diagnosed Patients Is Associated with Poor Outcome for B-ALL but Not for T-ALL
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
• Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell
• 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 in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
• Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy
• Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <em>SRD5A3</em>-Congenital Disorders of Glycosylation and <em>RP1</em>-Related Retinitis Pigmentosa
• Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
• Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
• 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
• Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues
• Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line
• Mosaicism for Autosomal Trisomies: A Comprehensive Analysis of 1266 Published Cases Focusing on Maternal Age and Reproductive History
• National Rapid Genome Sequencing in Neonatal Intensive Care
• Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms
• Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader-Willi syndrome caused by trisomy rescue in the neonatal period
• Perinatal and neonatal characteristics of Prader-Willi syndrome in Japan
• Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
• Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22
• Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array
• Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
• Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome
• Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome
• Prevalence and genotypic associations of epilepsy in Prader-Willi Syndrome: A systematic review and meta-analysis
• Prevalence and Phenotypic Impact of Robertsonian Translocations
• 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
• Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age
• Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
• Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
• Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
• Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups
• Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome
• Single nucleotide polymorphism array in genetic evaluation of fetal ultrasound abnormalities: a retrospective follow-up study
• Small supernumerary marker chromosomes derived from chromosome 14 and/or 22
• Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
• The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis
• The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
• The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome
• The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome
• The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages
• The Italian registry for patients with Prader-Willi syndrome
• The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction
• Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome
• Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the <em>TMCO1</em> and <em>PRKRA</em> genes
• Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes
• Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15
• Wilson's Disease-Genetic Puzzles with Diagnostic Implications