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LUPSKI, JAMES
One or more keywords matched the following items that are connected to LUPSKI, JAMES
Item TypeName
Academic Article Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB.
Academic Article Functional analysis of mutations in the transcription terminator T1 that suppress two dnaG alleles in Escherichia coli.
Academic Article Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles.
Academic Article Detection of tandem duplications and implications for linkage analysis.
Academic Article Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
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 Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Academic Article An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Academic Article Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Academic Article Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Academic Article Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
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 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 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Academic Article BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Academic Article Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
Academic Article An ABCA4 genomic deletion in patients with Stargardt disease.
Academic Article Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Academic Article The complete genome of an individual by massively parallel DNA sequencing.
Academic Article Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Academic Article Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Academic Article Exome capture sequencing identifies a novel mutation in BBS4.
Academic Article Mechanisms for recurrent and complex human genomic rearrangements.
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 Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Academic Article Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Academic Article Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Academic Article Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Academic Article Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
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 Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.
Academic Article A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
Academic Article GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Concept Alleles
Academic Article NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Academic Article Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Academic Article Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Academic Article Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Academic Article Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Academic Article Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Academic Article The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Academic Article Analysis of the ABCA4 genomic locus in Stargardt disease.
Academic Article TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Academic Article Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Academic Article Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Academic Article Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Academic Article POGZ truncating alleles cause syndromic intellectual disability.
Academic Article Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Academic Article DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Academic Article Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
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 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Academic Article Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Academic Article Biallelic mutations in IRF8 impair human NK cell maturation and function.
Academic Article A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Academic Article Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome.
Academic Article PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
Academic Article Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Academic Article A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Academic Article Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Academic Article TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Academic Article Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Academic Article Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Grant Molecular basis of the craniofacial anomalies in SMS
Grant Exploring the Reversibilty of the Smith-Magenis Syndrome Phenotype
Grant ABCR, Macular Dystrophies and Degeneration
Academic Article Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Academic Article Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Academic Article TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Academic Article Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Academic Article A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Academic Article Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Academic Article Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Academic Article Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Academic Article Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Academic Article Human NK cell deficiency as a result of biallelic mutations in MCM10.
Academic Article NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Academic Article Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Academic Article Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Academic Article Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Academic Article Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Academic Article Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Academic Article Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Academic Article Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Academic Article Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Academic Article Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Academic Article Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
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