| scholarly article | Q13442814 |
| P50 | author | James R. Lupski | Q6141679 |
| P2860 | cites work | Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior. | Q55115610 |
| 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 | ||
| TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice | Q57283993 | ||
| The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication | Q57624287 | ||
| The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease | Q58067577 | ||
| A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies | Q58183784 | ||
| Schizophrenia: Incriminating genomic evidence | Q59096804 | ||
| Effects of pathogenic CNVs on physical traits in participants of the UK Biobank | Q59793210 | ||
| Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A | Q62583495 | ||
| Insights into genetics, human biology and disease gleaned from family based genomic studies | Q64041297 | ||
| Phenotypic expansion illuminates multilocus pathogenic variation. | Q64896387 | ||
| The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A | Q67482921 | ||
| 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 | ||
| Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17 | Q70514766 | ||
| Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A | Q71861794 | ||
| 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 | ||
| THE BAR "GENE" A DUPLICATION | Q81073369 | ||
| Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency | Q81231806 | ||
| Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, | Q82838750 | ||
| Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements | Q89120526 | ||
| The copy number variation landscape of congenital anomalies of the kidney and urinary tract | Q90712113 | ||
| TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model | Q91018289 | ||
| Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway | Q91029743 | ||
| Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes | Q21145278 | ||
| The complete genome of an individual by massively parallel DNA sequencing | Q22122226 | ||
| Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia | Q22248085 | ||
| Rare chromosomal deletions and duplications increase risk of schizophrenia | Q22337245 | ||
| The Stability of Broken Ends of Chromosomes in Zea Mays. | Q24533277 | ||
| Molecular model for the transposition and replication of bacteriophage Mu and other transposable elements | Q24597239 | ||
| Massive genomic rearrangement acquired in a single catastrophic event during cancer development | Q24631164 | ||
| Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities | Q24647145 | ||
| Large recurrent microdeletions associated with schizophrenia | Q24654741 | ||
| 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 | ||
| Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains | Q26269836 | ||
| Mechanisms underlying structural variant formation in genomic disorders | Q26765934 | ||
| The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | Q27014740 | ||
| Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models | Q27322785 | ||
| A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men | Q27333802 | ||
| Structural variation mutagenesis of the human genome: Impact on disease and evolution | Q27691419 | ||
| Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion | Q28141491 | ||
| A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders | Q28262802 | ||
| Association between microdeletion and microduplication at 16p11.2 and autism | Q28264205 | ||
| DUF1220-domain copy number implicated in human brain-size pathology and evolution | Q28273301 | ||
| APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy | Q28288090 | ||
| Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size | Q29544005 | ||
| Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
| Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. | Q31158469 | ||
| A microhomology-mediated break-induced replication model for the origin of human copy number variation | Q33404060 | ||
| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome | Q33572334 | ||
| Chimeric transcripts resulting from complex duplications in chromosome Xq28 | Q33837412 | ||
| 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 | ||
| 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture | Q33964444 | ||
| The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles | Q34030743 | ||
| Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome | Q34104260 | ||
| Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia | Q34191561 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Q34212342 | ||
| Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements | Q34217081 | ||
| Chromothripsis and human disease: piecing together the shattering process. | Q34248716 | ||
| DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome | Q34388841 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome | Q34441884 | ||
| Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome | Q34556894 | ||
| Mendelian Inheritance in Man and its online version, OMIM | Q34577589 | ||
| Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodia | Q34601357 | ||
| Charcot-Marie-Tooth disease subtypes and genetic testing strategies | Q34681666 | ||
| TBX6 null variants and a common hypomorphic allele in congenital scoliosis | Q35078357 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication | Q35154767 | ||
| Absence of heterozygosity due to template switching during replicative rearrangements | Q35266338 | ||
| Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over | Q35286506 | ||
| Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome | Q35606491 | ||
| The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans | Q35704490 | ||
| Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. | Q35766412 | ||
| Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. | Q35862063 | ||
| Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy | Q35984327 | ||
| Mechanisms for recurrent and complex human genomic rearrangements | Q36044446 | ||
| Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia | Q36124360 | ||
| Mechanisms for Complex Chromosomal Insertions. | Q36202375 | ||
| Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome | Q36339846 | ||
| Copy number variations and cognitive phenotypes in unselected populations | Q36384798 | ||
| Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization | Q36385065 | ||
| Phenotypic heterogeneity of genomic disorders and rare copy-number variants | Q36387744 | ||
| Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements | Q36395769 | ||
| DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. | Q36663129 | ||
| Clan genomics and the complex architecture of human disease | Q36851578 | ||
| Genomic rearrangements and sporadic disease | Q36863512 | ||
| NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits | Q37138653 | ||
| 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 | ||
| Genomic disorders ten years on. | Q37198442 | ||
| Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion | Q37217642 | ||
| Replicative mechanisms for CNV formation are error prone | Q37290645 | ||
| Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication | Q37634108 | ||
| Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation | Q37679283 | ||
| Lessons learned from additional research analyses of unsolved clinical exome cases | Q37715741 | ||
| Clinical genomics: from a truly personal genome viewpoint. | Q38843416 | ||
| Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation | Q39174818 | ||
| Contiguous gene syndromes: a component of recognizable syndromes | Q39503696 | ||
| Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A | Q41081244 | ||
| Gene dosage of the amyloid beta precursor protein in Alzheimer's disease | Q41356686 | ||
| Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. | Q41643440 | ||
| Identification of novel candidate disease genes from de novo exonic copy number variants. | Q41692239 | ||
| Copy number variation at the breakpoint region of isochromosome 17q. | Q41766829 | ||
| DNA synthesis generates terminal duplications that seal end-to-end chromosome fusions | Q41956397 | ||
| The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy | Q42113493 | ||
| 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 | ||
| Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray | Q42204762 | ||
| Cognitive phenotypes and genomic copy number variations | Q42495293 | ||
| The amyloid beta protein gene is not duplicated in brains from patients with Alzheimer's disease | Q43599518 | ||
| Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family. | Q45124767 | ||
| Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic. | Q46001408 | ||
| Genomic disorders 20 years on-mechanisms for clinical manifestations | Q46300376 | ||
| 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 | ||
| Theodor and Marcella Boveri: chromosomes and cytoplasm in heredity and development. | Q48530992 | ||
| Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. | Q52562177 | ||
| An Organismal CNV Mutator Phenotype Restricted to Early Human Development. | Q52712904 | ||
| Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome. | Q53190559 | ||
| P433 | issue | 3 | |
| P304 | page(s) | 391-406 | |
| P577 | publication date | 2019-03-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements | |
| P478 | volume | 104 |
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