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LUPSKI, JAMES

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Item Type	Name
Academic Article	Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon.
Academic Article	Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase.
Academic Article	Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon.
Academic Article	Cloning and characterization of the Escherichia coli chromosomal region surrounding the dnaG Gene, with a correlated physical and genetic map of dnaG generated via transposon Tn5 mutagenesis.
Academic Article	Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Academic Article	Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Academic Article	Settling the myelin protein zero question in CMT1B.
Academic Article	Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
Academic Article	Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.
Academic Article	Molecular genetics of Charcot-Marie-Tooth neuropathy.
Academic Article	A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
Academic Article	Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
Academic Article	Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
Academic Article	Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
Academic Article	Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
Academic Article	Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
Academic Article	Chromosomal duplications in bacteria, fruit flies, and humans.
Academic Article	Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Academic Article	A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article	Charcot-Marie-Tooth disease and related inherited neuropathies.
Academic Article	Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
Academic Article	Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Academic Article	The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
Academic Article	Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article	Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Academic Article	Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
Academic Article	Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
Academic Article	Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Academic Article	Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.
Academic Article	Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
Academic Article	Detection of tandem duplications and implications for linkage analysis.
Academic Article	Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Academic Article	Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
Academic Article	DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
Academic Article	A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
Academic Article	Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Academic Article	Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2.
Academic Article	Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
Academic Article	Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Academic Article	Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Academic Article	Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
Academic Article	Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Academic Article	Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
Academic Article	Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Academic Article	Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.
Academic Article	Ophthalmic manifestations of Smith-Magenis syndrome.
Academic Article	Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Academic Article	Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Academic Article	Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.
Academic Article	A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
Academic Article	Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
Academic Article	Genome architecture, rearrangements and genomic disorders.
Academic Article	Localization of mariner DNA transposons in the human genome by PRINS.
Academic Article	Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
Academic Article	Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype.
Academic Article	Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Academic Article	The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Academic Article	Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
Academic Article	The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Academic Article	Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Academic Article	Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Academic Article	Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites.
Academic Article	DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Academic Article	Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.
Academic Article	Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
Academic Article	Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.
Academic Article	Two MspI RFLPs at the D17S258 locus.
Academic Article	Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Academic Article	Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Academic Article	Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Academic Article	Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article	Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Academic Article	Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article	Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)
Academic Article	Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
Academic Article	Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
Academic Article	Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
Academic Article	New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
Academic Article	Use of the polymerase chain reaction for physical mapping of Escherichia coli genes.
Academic Article	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.
Academic Article	Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Academic Article	The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.
Academic Article	Molecular characterization of a patient with del(1)(q23-q25).
Academic Article	Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
Academic Article	Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
Academic Article	Three polymorphisms at the D17S29 locus.
Academic Article	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.
Academic Article	Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
Academic Article	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Academic Article	AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Academic Article	2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
Academic Article	The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.
Academic Article	Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Academic Article	Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
Academic Article	Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
Academic Article	Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.
Academic Article	Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Academic Article	22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Academic Article	Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureus.
Academic Article	COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast.
Academic Article	Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Academic Article	Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Academic Article	Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Academic Article	Increased LIS1 expression affects human and mouse brain development.
Academic Article	Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction.
Academic Article	Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
Academic Article	Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
Academic Article	A girl with duplication 17p10-p12 associated with a dicentric chromosome.
Academic Article	Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
Academic Article	Complex human chromosomal and genomic rearrangements.
Academic Article	Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Academic Article	Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Academic Article	Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
Academic Article	Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
Academic Article	Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
Academic Article	Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Academic Article	Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
Academic Article	Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Academic Article	Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
Academic Article	Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
Academic Article	Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
Academic Article	Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Academic Article	Exome capture sequencing identifies a novel mutation in BBS4.
Academic Article	Cardiovascular findings in duplication 17p11.2 syndrome.
Academic Article	Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Academic Article	Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.
Academic Article	Genome structural variation and sporadic disease traits.
Academic Article	Mechanisms for recurrent and complex human genomic rearrangements.
Academic Article	Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
Academic Article	Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
Academic Article	Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Academic Article	Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Academic Article	Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
Academic Article	Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Academic Article	Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Academic Article	Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].
Academic Article	Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
Academic Article	Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
Academic Article	Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
Academic Article	Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
Academic Article	Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Academic Article	Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Academic Article	Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Academic Article	Population bottlenecks as a potential major shaping force of human genome architecture.
Academic Article	Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Academic Article	The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Academic Article	Copy number variation at the breakpoint region of isochromosome 17q.
Academic Article	Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
Academic Article	Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Academic Article	A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Academic Article	Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
Academic Article	Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Academic Article	Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Academic Article	Genomic and clinical characteristics of microduplications in chromosome 17.
Academic Article	Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article	Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Academic Article	Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
Academic Article	Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Academic Article	High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Academic Article	Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Academic Article	Structural variation of the human genome: mechanisms, assays, and role in male infertility.
Academic Article	Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Academic Article	Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Academic Article	The phenotype of recurrent 10q22q23 deletions and duplications.
Academic Article	Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Academic Article	Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.
Academic Article	Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
Academic Article	Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Academic Article	Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.
Academic Article	Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
Academic Article	Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Academic Article	NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Academic Article	Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.
Academic Article	Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Academic Article	Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Academic Article	Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Academic Article	De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
Academic Article	Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.
Academic Article	Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
Academic Article	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Academic Article	A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.
Academic Article	A clinical and molecular study of mosaicism for trisomy 17.
Academic Article	Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
Academic Article	Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Academic Article	DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
Academic Article	A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Academic Article	Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
Academic Article	Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
Academic Article	Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
Academic Article	A novel locus for Leber congenital amaurosis on chromosome 14q24.
Academic Article	Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Academic Article	Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Academic Article	Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Academic Article	Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Academic Article	Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Academic Article	Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.
Academic Article	Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
Academic Article	The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Academic Article	Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Academic Article	Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Academic Article	Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
Academic Article	Serial segmental duplications during primate evolution result in complex human genome architecture.
Academic Article	Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
Academic Article	Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Academic Article	Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Academic Article	Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Academic Article	Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
Academic Article	Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Academic Article	DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Academic Article	Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article	Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Academic Article	Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
Academic Article	A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
Academic Article	Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Academic Article	Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Academic Article	Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning.
Academic Article	Completing the map of human genetic variation.
Academic Article	Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Academic Article	Genomic rearrangements and sporadic disease.
Academic Article	Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article	Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Academic Article	Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Academic Article	CNV and nervous system diseases--what's new?
Academic Article	Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Academic Article	Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
Academic Article	Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Academic Article	Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
Academic Article	Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
Academic Article	Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Academic Article	Olfactory copy number association with age at onset of Alzheimer disease.
Academic Article	Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
Academic Article	A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
Academic Article	Identification of the first recurrent PAR1 deletion in L?ri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
Academic Article	Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article	DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Academic Article	Generation of the Sotos syndrome deletion in mice.
Academic Article	Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Academic Article	Inverted low-copy repeats and genome instability--a genome-wide analysis.
Academic Article	Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic.
Academic Article	Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
Concept	Chromosomes, Human, Pair 18
Concept	Chromosomes, Human, Pair 12
Concept	Chromosomes, Artificial, P1 Bacteriophage
Concept	Sex Chromosomes
Concept	Chromosomes, Human, Pair 15
Concept	X Chromosome Inactivation
Concept	Sex Chromosome Aberrations
Concept	Chromosomes, Human, X
Concept	Y Chromosome
Concept	Chromosomes, Human, Y
Concept	Chromosomes, Human, Pair 16
Concept	Chromosomes, Human, Pair 17
Concept	Chromosome Banding
Concept	Chromosomes, Human
Concept	Chromosome Breakage
Concept	Chromosomes, Human, Pair 14
Concept	Physical Chromosome Mapping
Concept	Chromosomes, Human, Pair 11
Concept	Chromosome Fragility
Concept	Chromosomes, Human, Pair 1
Concept	Chromosomes, Human, Pair 19
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 20
Concept	Chromosomes
Concept	Philadelphia Chromosome
Concept	Chromosomes, Bacterial
Concept	Chromosomes, Artificial, Yeast
Concept	Chromosomes, Human, Pair 4
Concept	Chromosomes, Human, Pair 5
Concept	Chromosome Segregation
Concept	Chromosomes, Human, Pair 21
Concept	Chromosomes, Human, Pair 8
Concept	Chromosome Mapping
Concept	Ring Chromosomes
Concept	Chromosome Aberrations
Concept	Chromosome Deletion
Concept	Chromosomes, Human, Pair 10
Concept	Chromosome Inversion
Concept	Chromosomes, Human, Pair 7
Concept	Chromosome Pairing
Concept	Chromosomes, Human, Pair 6
Concept	Chromosomes, Artificial, Bacterial
Concept	Chromosome Breakpoints
Concept	Chromosomes, Human, Pair 2
Concept	X Chromosome
Concept	Chromosomes, Human, Pair 13
Concept	Chromosomes, Fungal
Concept	Chromosomes, Human, Pair 9
Concept	Chromosomes, Mammalian
Concept	Chromosome Disorders
Concept	Chromosomes, Human, Pair 22
Concept	Chromosome Fragile Sites
Academic Article	NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article	Molecular and genetic bases of disease.
Academic Article	TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Academic Article	CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Academic Article	Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Academic Article	Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Academic Article	Passage number is a major contributor to genomic structural variations in mouse iPSCs.
Academic Article	Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Academic Article	Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
Academic Article	A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article	Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.
Academic Article	Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
Academic Article	Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Academic Article	Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Academic Article	Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Academic Article	TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article	Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Academic Article	PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
Academic Article	X-linked acrogigantism syndrome: clinical profile and therapeutic responses.
Academic Article	Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article	Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Academic Article	Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Academic Article	Chimeric transcripts resulting from complex duplications in chromosome Xq28.
Academic Article	Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
Academic Article	A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Academic Article	Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article	Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article	Two male sibs with severe micrognathia and a missense variant in MED12.
Academic Article	Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Academic Article	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Academic Article	Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Academic Article	Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Academic Article	Mechanisms for Complex Chromosomal Insertions.
Academic Article	Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis.
Academic Article	Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Academic Article	An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Academic Article	22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Academic Article	Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Academic Article	REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Academic Article	Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Academic Article	Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
Academic Article	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Academic Article	A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Grant	Molecular basis of the craniofacial anomalies in SMS
Grant	Exploring the Reversibilty of the Smith-Magenis Syndrome Phenotype
Grant	Chromosome Rearrangements and Mental Retardation
Academic Article	2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
Academic Article	Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Academic Article	Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Academic Article	Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Concept	Sex Chromosome Disorders of Sex Development
Concept	Chromosome Duplication
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article	Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.
Academic Article	Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Academic Article	Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Academic Article	Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Academic Article	Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Academic Article	Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Academic Article	Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Academic Article	Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Academic Article	A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Academic Article	Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
Academic Article	Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.

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