| scholarly article | Q13442814 |
| review article | Q7318358 |
| P356 | DOI | 10.1007/S13353-016-0376-Z |
| P8608 | Fatcat ID | release_dnw2id6blzbrtbq3lflo7ksvya |
| P698 | PubMed publication ID | 27858254 |
| P50 | author | Urszula Demkow | Q87115735 |
| Krzysztof Szczałuba | Q38803523 | ||
| P2860 | cites work | THE CHROMOSOME NUMBER OF MAN | Q22065646 |
| Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy | Q24304076 | ||
| Genome sequencing in microfabricated high-density picolitre reactors | Q24544260 | ||
| Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome | Q24607321 | ||
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
| Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care | Q26744450 | ||
| Kabuki syndrome: clinical and molecular characteristics | Q26778099 | ||
| Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL) | Q27021835 | ||
| Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction | Q27340446 | ||
| New insights into craniofacial malformations | Q28088384 | ||
| First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype | Q28247493 | ||
| KDM6A point mutations cause Kabuki syndrome | Q28277325 | ||
| ClinGen--the Clinical Genome Resource | Q28648173 | ||
| Guidelines for investigating causality of sequence variants in human disease | Q28655218 | ||
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors | Q29618818 | ||
| Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. | Q30394234 | ||
| The molecular genetics of holoprosencephaly | Q33624762 | ||
| Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound | Q33649327 | ||
| Holoprosencephaly: a guide to diagnosis and clinical management | Q34041428 | ||
| GPI-anchored proteins: now you see 'em, now you don't | Q34130779 | ||
| Mutations in FEZF1 cause Kallmann syndrome | Q34146811 | ||
| Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve | Q34274182 | ||
| The promise of whole-exome sequencing in medical genetics | Q34382912 | ||
| Genome sequencing identifies major causes of severe intellectual disability | Q34422838 | ||
| Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome | Q35078642 | ||
| Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield | Q35228294 | ||
| Investigation of copy number variation in children with conotruncal heart defects. | Q35292463 | ||
| KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome | Q35751744 | ||
| Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract | Q35836481 | ||
| Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome | Q35877816 | ||
| Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing | Q35877859 | ||
| FBN1 contributing to familial congenital diaphragmatic hernia. | Q54917917 | ||
| The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. | Q55060248 | ||
| Craniosynostosis | Q56262853 | ||
| High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g | Q56332951 | ||
| What to call a syndrome. | Q64967564 | ||
| Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays | Q83163623 | ||
| Microdeletion and microduplication syndromes | Q83587486 | ||
| Microdeletion on 3p25 in a patient with features of 3p deletion syndrome | Q84823943 | ||
| High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate | Q86581599 | ||
| Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region | Q86647140 | ||
| Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling | Q87408668 | ||
| Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene | Q87410395 | ||
| Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. | Q36072998 | ||
| RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome | Q36106023 | ||
| Phenotypic heterogeneity of genomic disorders and rare copy-number variants | Q36387744 | ||
| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease | Q36439318 | ||
| Congenital malformations in 100,000 consecutive births in Emilia Romagna region, northern Italy: comparison with the EUROCAT data | Q36474423 | ||
| Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. | Q36493270 | ||
| Novel microdeletion syndromes detected by chromosome microarrays | Q37177145 | ||
| De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot | Q37353964 | ||
| Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. | Q37482343 | ||
| De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability | Q37693369 | ||
| Advances in whole-genome genetic testing: from chromosomes to microarrays | Q37983201 | ||
| A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? | Q38034341 | ||
| Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study | Q38203855 | ||
| Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing | Q38866800 | ||
| Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing | Q39123382 | ||
| Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants | Q39727996 | ||
| Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. | Q40580392 | ||
| Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder | Q40588093 | ||
| Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies | Q40751519 | ||
| Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects. | Q40773683 | ||
| Identification of Gender-Specific Genetic Variants in Patients With Bicuspid Aortic Valve. | Q41018116 | ||
| Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate. | Q41712154 | ||
| Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome | Q41922979 | ||
| Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot | Q42639367 | ||
| The causality of de novo copy number variants is overestimated | Q42944846 | ||
| The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing | Q43962585 | ||
| De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Q45340629 | ||
| Copy-number variation associated with congenital anomalies of the kidney and urinary tract. | Q50631353 | ||
| Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. | Q50655972 | ||
| Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. | Q50715864 | ||
| Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. | Q51831615 | ||
| Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization. | Q51848445 | ||
| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. | Q52138436 | ||
| Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. | Q52602627 | ||
| Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. | Q52654975 | ||
| High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. | Q52916473 | ||
| The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. | Q53115248 | ||
| The introduction of arrays in prenatal diagnosis: a special challenge. | Q53131950 | ||
| SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. | Q53473385 | ||
| Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. | Q53774366 | ||
| Further evidence of the importance of RIT1 in Noonan syndrome. | Q54329911 | ||
| Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. | Q54435468 | ||
| P433 | issue | 2 | |
| P921 | main subject | congenital disorder | Q727096 |
| P304 | page(s) | 185-198 | |
| P577 | publication date | 2016-11-18 | |
| P1433 | published in | Journal of Applied Genetics | Q15767059 |
| P1476 | title | Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies | |
| P478 | volume | 58 |
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