| editorial | Q871232 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1024132600 |
| P356 | DOI | 10.1186/GM42 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1186/gm42 |
| P932 | PMC publication ID | 2684663 |
| P698 | PubMed publication ID | 19439022 |
| P5875 | ResearchGate publication ID | 24424256 |
| P50 | author | James R. Lupski | Q6141679 |
| P2860 | cites work | Initial sequencing and analysis of the human genome | Q21045365 |
| Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes | Q21145278 | ||
| The Sequence of the Human Genome | Q22065842 | ||
| Finishing the euchromatic sequence of the human genome | Q22122488 | ||
| Rare chromosomal deletions and duplications increase risk of schizophrenia | Q22337245 | ||
| Microduplication and triplication of 22q11.2: a highly variable syndrome | Q24531527 | ||
| Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients | Q24532183 | ||
| 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome | Q24533585 | ||
| Clinical and molecular delineation of the 17q21.31 microdeletion syndrome | Q24624737 | ||
| Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes | Q24625992 | ||
| Severe expressive-language delay related to duplication of the Williams-Beuren locus | Q24626704 | ||
| Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication | Q24646722 | ||
| Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities | Q24647145 | ||
| A second generation human haplotype map of over 3.1 million SNPs | Q24651939 | ||
| Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing | Q24653015 | ||
| Large recurrent microdeletions associated with schizophrenia | Q24654741 | ||
| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | Q24655755 | ||
| DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage | Q24656170 | ||
| Global variation in copy number in the human genome | Q24658083 | ||
| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse | Q24672496 | ||
| Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). | Q24672578 | ||
| Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features | Q24675632 | ||
| A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon | Q24678661 | ||
| Uniparental disomy as a mechanism for human genetic disease | Q24679370 | ||
| A haplotype map of the human genome | Q24679827 | ||
| Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype | Q24683002 | ||
| Genetic Compensation in a Human Genomic Disorder | Q62059316 | ||
| Long AT-rich palindromes and the constitutional t(11;22) breakpoint | Q64387987 | ||
| Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit | Q67482959 | ||
| DNA duplication associated with Charcot-Marie-Tooth disease type 1A | Q68308484 | ||
| Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 | Q71996147 | ||
| Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits | Q77572380 | ||
| Hereditary pancreatitis caused by triplication of the trypsinogen locus | Q79314164 | ||
| Detection of low-level mosaicism by array CGH in routine diagnostic specimens | Q79356683 | ||
| Structural variation in the human genome | Q79953699 | ||
| Genomics. DNA duplications and deletions help determine health | Q81152810 | ||
| Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation | Q81236553 | ||
| Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5 | Q81402655 | ||
| Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH | Q94706623 | ||
| Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases | Q36881942 | ||
| Prenatal detection of unbalanced chromosomal rearrangements by array CGH. | Q36927206 | ||
| Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | Q36927223 | ||
| Mechanisms for human genomic rearrangements | Q36975128 | ||
| Germline rates of de novo meiotic deletions and duplications causing several genomic disorders | Q37160463 | ||
| Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome | Q37183948 | ||
| 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits | Q37186918 | ||
| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching | Q37201006 | ||
| Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease | Q37318174 | ||
| FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity | Q37342489 | ||
| Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses | Q37435423 | ||
| Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. | Q37482343 | ||
| Breakpoints of gross deletions coincide with non-B DNA conformations | Q37557324 | ||
| Serial segmental duplications during primate evolution result in complex human genome architecture | Q37600502 | ||
| Psoriasis is associated with increased beta-defensin genomic copy number | Q39789019 | ||
| Characterization of a recurrent 15q24 microdeletion syndrome. | Q39789768 | ||
| Segmental duplications: organization and impact within the current human genome project assembly | Q40415164 | ||
| Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A | Q41081244 | ||
| Copy number variation at the breakpoint region of isochromosome 17q. | Q41766829 | ||
| Detection of tandem duplications and implications for linkage analysis. | Q42135631 | ||
| The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A | Q42144462 | ||
| Genetic variation affects de novo translocation frequency. | Q42150499 | ||
| Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. | Q42150838 | ||
| Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents | Q43170661 | ||
| Unequal crossing-over: a common basis of single alpha-globin genes in Asians and American blacks with hemoglobin-H disease | Q46597259 | ||
| A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). | Q47985128 | ||
| A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. | Q48066076 | ||
| Genome structural variation and sporadic disease traits | Q48085036 | ||
| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. | Q50313009 | ||
| Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. | Q51905129 | ||
| Autism, language delay and mental retardation in a patient with 7q11 duplication. | Q51905266 | ||
| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. | Q51908882 | ||
| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. | Q51910339 | ||
| Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? | Q51932933 | ||
| Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. | Q51951849 | ||
| Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. | Q52011856 | ||
| Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. | Q52840662 | ||
| New insights into the biological basis of genomic disorders. | Q53585955 | ||
| DNA deletion associated with hereditary neuropathy with liability to pressure palsies | Q55670941 | ||
| Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene | Q57199260 | ||
| Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics | Q57537895 | ||
| Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization | Q57537925 | ||
| Development and validation of a CGH microarray for clinical cytogenetic diagnosis | Q57537935 | ||
| A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies | Q58183784 | ||
| Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) | Q58183892 | ||
| Schizophrenia: Incriminating genomic evidence | Q59096804 | ||
| Hotspots of homologous recombination in the human genome: not all homologous sequences are equal | Q24809343 | ||
| Detection of large-scale variation in the human genome | Q28131803 | ||
| A common molecular basis for rearrangement disorders on chromosome 22q11 | Q28137663 | ||
| Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion | Q28141491 | ||
| Segmental duplications and copy-number variation in the human genome | Q28253048 | ||
| Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability | Q28257488 | ||
| A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders | Q28262802 | ||
| Association between microdeletion and microduplication at 16p11.2 and autism | Q28264205 | ||
| A review of the molecular genetics of the human alpha-globin gene cluster | Q28268949 | ||
| Large-scale copy number polymorphism in the human genome | Q28273726 | ||
| Molecular genetics of inherited variation in human color vision | Q28298993 | ||
| The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility | Q28301418 | ||
| Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange | Q28302565 | ||
| Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
| Recent segmental duplications in the human genome | Q29616016 | ||
| Increased LIS1 expression affects human and mouse brain development | Q30639738 | ||
| Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases | Q30830662 | ||
| Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p | Q33230917 | ||
| A microhomology-mediated break-induced replication model for the origin of human copy number variation | Q33404060 | ||
| Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent | Q33678294 | ||
| Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders | Q33874840 | ||
| Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. | Q33905308 | ||
| The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats | Q33909470 | ||
| The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes | Q33948853 | ||
| Copy number variation in human health, disease, and evolution | Q34019142 | ||
| AT-rich palindromes mediate the constitutional t(11;22) translocation. | Q34043814 | ||
| Assembly of microarrays for genome-wide measurement of DNA copy number | Q34099918 | ||
| Diagnostic genome profiling in mental retardation | Q34114527 | ||
| Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. | Q34353994 | ||
| Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients | Q34385379 | ||
| A chromosomal deletion map of human malformations. | Q34387317 | ||
| A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans | Q34389824 | ||
| Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. | Q34428307 | ||
| The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. | Q34438070 | ||
| Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome | Q34441884 | ||
| Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans | Q34495131 | ||
| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Q34519312 | ||
| Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome | Q34556894 | ||
| A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | Q34556905 | ||
| A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features | Q34638615 | ||
| Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. | Q34694670 | ||
| Molecular-evolutionary mechanisms for genomic disorders | Q34699430 | ||
| Recurrent 16p11.2 microdeletions in autism | Q34729775 | ||
| 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome | Q34733853 | ||
| Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. | Q34770044 | ||
| The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP | Q35035289 | ||
| Crohn's disease: a defensin deficiency syndrome? | Q35168862 | ||
| Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). | Q35204512 | ||
| A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination | Q35221469 | ||
| The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes | Q35446985 | ||
| Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). | Q35449077 | ||
| Recurrent DNA inversion rearrangements in the human genome | Q35699743 | ||
| The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans | Q35704490 | ||
| A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome | Q35751736 | ||
| Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. | Q35784798 | ||
| Processes of de novo duplication of human alpha-globin genes. | Q35864984 | ||
| Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients | Q35881635 | ||
| Short, interspersed repetitive DNA sequences in prokaryotic genomes. | Q36294767 | ||
| Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports | Q36402087 | ||
| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy | Q36492215 | ||
| Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion | Q36586599 | ||
| A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures | Q36627230 | ||
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | Q36718273 | ||
| Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles | Q36718902 | ||
| Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort | Q36719004 | ||
| Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake | Q36742257 | ||
| Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation | Q36806004 | ||
| Genomic rearrangements and sporadic disease | Q36863512 | ||
| P433 | issue | 4 | |
| P304 | page(s) | 42 | |
| P577 | publication date | 2009-04-24 | |
| P1433 | published in | Genome Medicine | Q15816848 |
| P1476 | title | Genomic disorders ten years on. | |
| P478 | volume | 1 |
| Q92229368 | 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements |
| Q35043222 | A Likelihood-Based Framework for Association Analysis of Allele-Specific Copy Numbers |
| Q33739397 | A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications |
| Q27333802 | A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men |
| Q39414089 | A functional role for structural variation in metabolism |
| Q34425384 | A multilevel model to address batch effects in copy number estimation using SNP arrays. |
| Q52949472 | A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction. |
| Q48064728 | Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies |
| Q39458224 | Brief report: regression timing and associated features in MECP2 duplication syndrome |
| Q28083143 | CNVs in neuropsychiatric disorders |
| Q36884892 | Cardiovascular findings in duplication 17p11.2 syndrome |
| Q91786847 | Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome |
| Q38073318 | Child development and structural variation in the human genome |
| Q41331384 | Chromosome structural variation of two cultivated tetraploid cottons and their ancestral diploid species based on a new high-density genetic map. |
| Q36380279 | Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era |
| Q38843416 | Clinical genomics: from a truly personal genome viewpoint. |
| Q35731269 | Complex human chromosomal and genomic rearrangements |
| Q38376370 | Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons. |
| Q38659486 | Copy number loss in the region of the ASPN gene in patients with acetabular dysplasia: ASPN CNV in acetabular dysplasia |
| Q37741019 | Copy number variants at Williams-Beuren syndrome 7q11.23 region. |
| Q27005637 | Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches |
| Q34019142 | Copy number variation in human health, disease, and evolution |
| Q37153021 | Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome |
| Q24602012 | Crystal structures of DNA-Whirly complexes and their role in Arabidopsis organelle genome repair |
| Q37304668 | Dealing with dangerous accidents: DNA double-strand breaks take centre stage. Symposium on Genome Instability and DNA Repair |
| Q30935536 | Detecting non-allelic homologous recombination from high-throughput sequencing data |
| Q51181347 | Detection of clinically relevant copy number variants with whole-exome sequencing. |
| Q35172112 | Detection of clinically relevant exonic copy-number changes by array CGH. |
| Q36611957 | Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders |
| Q55175432 | Detection of genomic structural variations in Guizhou indigenous pigs and the comparison with other breeds. |
| Q39741905 | Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis. |
| Q40510522 | Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome |
| Q33844411 | Evolution in health and medicine Sackler colloquium: Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies |
| Q33844453 | Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution |
| Q57263727 | Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions? |
| Q35286506 | Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over |
| Q35094193 | Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus |
| Q34156049 | Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. |
| Q98178342 | Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution |
| Q47618055 | Genomic Disorders in Psychiatry-What Does the Clinician Need to Know? |
| Q46300376 | Genomic disorders 20 years on-mechanisms for clinical manifestations |
| Q34277089 | Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome |
| Q38382440 | Genomic instability: Crossing pathways at the origin of structural and numerical chromosome changes |
| Q35097544 | Genomic medicine and neurological disease. |
| Q37654549 | Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era. |
| Q31149204 | Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort |
| Q30090219 | Human DHX9 helicase unwinds triple-helical DNA structures |
| Q22065433 | Human genome sequencing in health and disease |
| Q36385065 | Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization |
| Q33836160 | Identification of structural variation in mouse genomes |
| Q53305151 | Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. |
| Q37081586 | Inverted low-copy repeats and genome instability--a genome-wide analysis |
| Q34544478 | Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability |
| Q36044446 | Mechanisms for recurrent and complex human genomic rearrangements |
| Q34629238 | Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain |
| Q43116785 | Multiple samples aCGH analysis for rare CNVs detection |
| Q37138653 | NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits |
| Q36567024 | NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation |
| Q34315505 | Neurogenetics: advancing the "next-generation" of brain research |
| Q36065325 | Non-coding genetic variants in human disease |
| Q36339846 | Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome |
| Q41643440 | Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. |
| Q34493618 | On the spot: very local chromosomal rearrangements |
| Q37402635 | Parasite-host interaction in malaria: genetic clues and copy number variation |
| Q27322785 | Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models |
| Q37998942 | Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. |
| Q36543066 | Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities |
| Q29544005 | Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size |
| Q50764053 | Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia. |
| Q31158031 | Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus |
| Q35237181 | Single gene disorders come into focus--again |
| Q36083125 | Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 |
| Q27691419 | Structural variation mutagenesis of the human genome: Impact on disease and evolution |
| Q35230286 | Structural variation of the human genome: mechanisms, assays, and role in male infertility |
| Q41972354 | Targeted interrogation of copy number variation using SCIMMkit |
| Q37704614 | The clinical context of copy number variation in the human genome |
| Q42324829 | The fine-scale architecture of structural variants in 17 mouse genomes |
| Q34026930 | The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross |
| Q34694730 | The phenotype of recurrent 10q22q23 deletions and duplications |
| Q83309410 | The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome |
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