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LUPSKI, JAMES

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Item Type	Name
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	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	Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
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	Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1.
Academic Article	Molecular epidemiology and its clinical application.
Academic Article	Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
Academic Article	Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations.
Academic Article	Chromosomal duplications in bacteria, fruit flies, and humans.
Academic Article	Vertical transmission of Citrobacter diversus documented by DNA fingerprinting.
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	Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article	Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
Academic Article	Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Academic Article	Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Academic Article	Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.
Academic Article	Detection of tandem duplications and implications for linkage analysis.
Academic Article	Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Academic Article	Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
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	The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
Academic Article	Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
Academic Article	Recessive Charcot-Marie-tooth disease.
Academic Article	Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Academic Article	Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
Academic Article	Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Academic Article	A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Academic Article	Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.
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	Ophthalmic manifestations of Smith-Magenis syndrome.
Academic Article	Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Academic Article	Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Academic Article	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.
Academic Article	Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
Academic Article	Genome architecture, rearrangements and genomic disorders.
Academic Article	Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Academic Article	Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Academic Article	Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
Academic Article	Molecular-evolutionary mechanisms for genomic disorders.
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	Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Academic Article	Molecular mechanisms for genomic disorders.
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	Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
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	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Academic Article	Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
Academic Article	Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Academic Article	SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Academic Article	Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)
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	A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
Academic Article	New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
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	Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Academic Article	The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.
Academic Article	Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
Academic Article	Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.
Academic Article	T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Academic Article	Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
Academic Article	Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Academic Article	Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.
Academic Article	Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
Academic Article	2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
Academic Article	Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
Academic Article	An ABCA4 genomic deletion in patients with Stargardt disease.
Academic Article	A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Academic Article	Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy.
Academic Article	The complete genome of an individual by massively parallel DNA sequencing.
Academic Article	Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Academic Article	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, and American Academy of Physical Medicine and Rehabilitation.
Academic Article	Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Academic Article	Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
Academic Article	Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas.
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	Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Academic Article	Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Academic Article	Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
Academic Article	Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Academic Article	SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Academic Article	Clan genomics and the complex architecture of human disease.
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	The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
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	A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Academic Article	Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.
Academic Article	Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
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	Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
Academic Article	Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
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	Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
Academic Article	Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Academic Article	Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Academic Article	The genomic basis of disease, mechanisms and assays for genomic disorders.
Academic Article	Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review).
Academic Article	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 Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation.
Academic Article	Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Academic Article	Charcot-Marie-Tooth disease.
Academic Article	Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Academic Article	Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Academic Article	Copy number variation in human health, disease, and evolution.
Academic Article	Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
Academic Article	Structural variation in the human genome and its role in disease.
Academic Article	Interruption of SOX10 function in myelinopathies.
Academic Article	Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
Academic Article	Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Academic Article	High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Academic Article	Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Academic Article	Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.
Academic Article	Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
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	Brain copy number variants and neuropsychiatric traits.
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	Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
Academic Article	The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
Academic Article	A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Academic Article	Leap year: Rare day to highlight rare diseases.
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	Harnessing genomics to identify environmental determinants of heritable disease.
Academic Article	Digenic inheritance and Mendelian disease.
Academic Article	Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Academic Article	Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication.
Academic Article	Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
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	Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Academic Article	DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
Academic Article	Rapid determination of outbreak-related strains of Neisseria meningitidis by repetitive element-based polymerase chain reaction genotyping.
Academic Article	Charcot-Marie-Tooth disease: a gene-dosage effect.
Academic Article	Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
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	Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Academic Article	Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
Academic Article	Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
Academic Article	Molecular mechanisms for CMT1A duplication and HNPP deletion.
Academic Article	Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction.
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	Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Academic Article	Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.
Academic Article	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Academic Article	CMT4A: identification of a Hispanic GDAP1 founder mutation.
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	Genetics and genomics of behavioral and psychiatric disorders.
Academic Article	Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
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	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	An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.
Academic Article	Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Academic Article	Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
Academic Article	MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Academic Article	Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.
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	A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
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	Structural variation in the human genome.
Academic Article	Completing the map of human genetic variation.
Academic Article	Genomic rearrangements and sporadic disease.
Academic Article	Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Academic Article	Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Academic Article	Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
Academic Article	Schizophrenia: Incriminating genomic evidence.
Academic Article	Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).
Academic Article	CNV and nervous system diseases--what's new?
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	Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article	GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
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	Olfactory copy number association with age at onset of Alzheimer disease.
Academic Article	Genomic medicine and neurological disease.
Academic Article	Human genome sequencing in health and disease.
Academic Article	A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
Academic Article	Incidental copy-number variants identified by routine genome testing in a clinical population.
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	Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.
Concept	Virus Diseases
Concept	Eye Diseases
Concept	Autoimmune Diseases
Concept	Genetic Diseases, Inborn
Concept	Disease Models, Animal
Concept	Central Nervous System Diseases
Concept	Brain Diseases, Metabolic, Inborn
Concept	Mitochondrial Diseases
Concept	Bone Diseases, Developmental
Concept	Brain Diseases
Concept	Communicable Diseases
Concept	Iris Diseases
Concept	Neurodegenerative Diseases
Concept	Disease Susceptibility
Concept	Genetic Diseases, X-Linked
Concept	Refsum Disease
Concept	Hirschsprung Disease
Concept	Demyelinating Diseases
Concept	Retinal Diseases
Concept	Corneal Diseases
Concept	Bone Diseases, Metabolic
Concept	Alzheimer Disease
Concept	Orbital Diseases
Concept	Rare Diseases
Concept	Hereditary Central Nervous System Demyelinating Diseases
Concept	Bone Marrow Diseases
Concept	Disease Progression
Concept	Eye Diseases, Hereditary
Concept	Infectious Disease Transmission, Vertical
Concept	Crohn Disease
Concept	Infant, Newborn, Diseases
Concept	Diseases in Twins
Concept	Neuromuscular Diseases
Concept	Kidney Diseases, Cystic
Concept	Inflammatory Bowel Diseases
Concept	Lysosomal Storage Diseases
Concept	Disease Outbreaks
Concept	Genetic Predisposition to Disease
Concept	Disease Management
Concept	Nervous System Diseases
Concept	Cardiovascular Diseases
Concept	Charcot-Marie-Tooth Disease
Concept	Lung Diseases
Concept	Autonomic Nervous System Diseases
Concept	Cerebellar Diseases
Concept	Lung Diseases, Interstitial
Concept	Muscular Diseases
Concept	Communicable Diseases, Emerging
Concept	Disease
Concept	Oculomotor Nerve Diseases
Concept	Peripheral Nervous System Diseases
Concept	Fetal Diseases
Concept	Pelizaeus-Merzbacher Disease
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	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	Genetics. Genome mosaicism--one human, multiple genomes.
Academic Article	Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.
Academic Article	Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article	Curcumin facilitates a transitory cellular stress response in Trembler-J mice.
Academic Article	Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Academic Article	Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Academic Article	Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article	Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
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	Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Academic Article	PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Academic Article	The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Academic Article	Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Academic Article	Genetic and clinical analysis of ABCA4-associated disease in African American patients.
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	Charcot-Marie-Tooth disease and pathways to molecular based therapies.
Academic Article	Analysis of the ABCA4 genomic locus in Stargardt disease.
Academic Article	Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article	New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Academic Article	TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article	The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
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	Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Academic Article	COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Academic Article	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article	Somatic mosaicism: implications for disease and transmission genetics.
Academic Article	Non-coding genetic variants in human disease.
Academic Article	The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Academic Article	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Academic Article	Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
Academic Article	Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Academic Article	Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Academic Article	Whole-Exome Sequencing in Familial Parkinson Disease.
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	A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Academic Article	The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article	Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Academic Article	Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article	A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
Academic Article	Mechanisms underlying structural variant formation in genomic disorders.
Academic Article	Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.
Academic Article	Clinical genomics: from a truly personal genome viewpoint.
Academic Article	PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Academic Article	Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Academic Article	Structural variation mutagenesis of the human genome: Impact on disease and evolution.
Academic Article	GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
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	De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Academic Article	Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Academic Article	Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Academic Article	Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Academic Article	Biallelic mutations in IRF8 impair human NK cell maturation and function.
Academic Article	Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article	Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Academic Article	CAV3 mutation in a patient with transient hyperCKemia and myalgia.
Academic Article	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Academic Article	Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis.
Academic Article	Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article	Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Academic Article	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
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	An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
Academic Article	22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Academic Article	Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.
Academic Article	REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Academic Article	Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Academic Article	Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article	Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Academic Article	Genomic disorders 20 years on-mechanisms for clinical manifestations.
Academic Article	Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article	Phenotype expansion and development in Kosaki overgrowth syndrome.
Academic Article	Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics.
Academic Article	Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.
Academic Article	Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Academic Article	Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Academic Article	Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Academic Article	Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Academic Article	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.
Academic Article	Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article	Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
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	A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Academic Article	Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article	Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Academic Article	TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Grant	MOLECULAR GENETICS EMPHASIZING VISION RESEARCH
Grant	Exploring the Reversibilty of the Smith-Magenis Syndrome Phenotype
Grant	CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
Grant	STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
Grant	ABCR, Macular Dystrophies and Degeneration
Grant	COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
Academic Article	Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Academic Article	Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Academic Article	Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Academic Article	Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Academic Article	TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Academic Article	Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
Academic Article	Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Academic Article	Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
Academic Article	A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Academic Article	A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article	A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article	Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
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	Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Academic Article	Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Academic Article	Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.
Academic Article	Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Academic Article	Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Academic Article	Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Academic Article	Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
Academic Article	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article	HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Academic Article	Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Academic Article	Human NK cell deficiency as a result of biallelic mutations in MCM10.
Academic Article	NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.
Academic Article	Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Academic Article	Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Academic Article	Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
Academic Article	Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.
Academic Article	Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Academic Article	Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Academic Article	Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Academic Article	Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Academic Article	Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
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	Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Academic Article	Risk of sudden cardiac death in EXOSC5-related disease.
Academic Article	Exome variant discrepancies due to reference-genome differences.
Academic Article	IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Academic Article	Short stature and combined immunodeficiency associated with mutations in RGS10.
Academic Article	Clan genomics: From OMIM phenotypic traits to genes and biology.
Academic Article	Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Academic Article	Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Academic Article	De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Academic Article	El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Academic Article	Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Academic Article	De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Academic Article	Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Academic Article	TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Academic Article	A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Academic Article	Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42?affected individuals.
Academic Article	Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Academic Article	SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Academic Article	Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Academic Article	Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Academic Article	Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Academic Article	Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Academic Article	Somatic cell structural variant mutagenesis and neurologic disease.
Academic Article	Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Academic Article	HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Academic Article	Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Academic Article	Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Academic Article	Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

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