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LUPSKI, JAMES
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Academic Article Molecular evolution of pathogenic Escherichia coli.
Academic Article Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques.
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 Molecular fingerprinting of Legionella species by repetitive element PCR.
Academic Article DNA-based identification and epidemiologic typing of bacterial pathogens.
Academic Article Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Academic Article An additional case of pachygyria, joint contractures and facial abnormalities.
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 Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR.
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 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 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 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 Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
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 Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
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 Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
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 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 Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates.
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 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 Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones.
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 Recessive Charcot-Marie-tooth disease.
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 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 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 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 SERE, a widely dispersed bacterial repetitive DNA element.
Academic Article Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
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 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 Epidemiology of infections due to multiresistant Enterobacter aerogenes in a university hospital.
Academic Article Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Academic Article Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
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 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 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Academic Article Genome architecture, rearrangements and genomic disorders.
Academic Article Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
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 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 Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
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 Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Academic Article The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Academic Article Macular degeneration: the emerging genetics.
Academic Article Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Academic Article Molecular mechanisms for constitutional chromosomal rearrangements in humans.
Academic Article Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
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 Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
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 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 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
Academic Article Two MspI RFLPs at the D17S258 locus.
Academic Article Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
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 MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
Academic Article Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
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 SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Academic Article Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
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 Microbial DNA typing by automated repetitive-sequence-based PCR.
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 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 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 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Academic Article ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
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 BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
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 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 Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
Academic Article Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Academic Article Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
Academic Article Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.
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 Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
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 Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Academic Article Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
Academic Article Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
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 An ABCA4 genomic deletion in patients with Stargardt disease.
Academic Article Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Academic Article Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Academic Article A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Academic Article 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Academic Article Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Academic Article Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
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 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Academic Article Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Academic Article Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
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 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 A microhomology-mediated break-induced replication model for the origin of human copy number variation.
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 Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
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 Complex human chromosomal and genomic rearrangements.
Academic Article Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Academic Article Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
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 Retrotransposition and structural variation in the human genome.
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 Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Academic Article Low factor XII level in an individual with Sotos syndrome.
Academic Article Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
Academic Article Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
Academic Article A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
Academic Article Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
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 Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
Academic Article Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
Academic Article SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Academic Article Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Academic Article Clan genomics and the complex architecture of human disease.
Academic Article Exome capture sequencing identifies a novel mutation in BBS4.
Academic Article What have studies of genomic disorders taught us about our genome?
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 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
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 partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Academic Article Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Academic Article A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
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 Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.
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 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 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 Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor.
Academic Article Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
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 Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
Academic Article SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.
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 Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Academic Article An evolution revolution provides further revelation.
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 The genomic basis of disease, mechanisms and assays for genomic disorders.
Academic Article 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Academic Article Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Academic Article Mechanisms for human genomic rearrangements.
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 The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
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 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 Copy number variation in human health, disease, and evolution.
Academic Article Mechanisms of change in gene copy number.
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 Structural variation in the human genome and its role in disease.
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 Interruption of SOX10 function in myelinopathies.
Academic Article Detection of clinically relevant exonic copy-number changes by array CGH.
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 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 Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
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 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 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 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 Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Academic Article A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Academic Article NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
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 Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Academic Article Harnessing genomics to identify environmental determinants of heritable disease.
Academic Article Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Academic Article Digenic inheritance and Mendelian disease.
Academic Article Implementing genomic medicine in the clinic: the future is here.
Academic Article Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.
Academic Article Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Academic Article Structure and organization of genes for sporozoite surface antigens.
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 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 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 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
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 Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli.
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 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 Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
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 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 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 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 Increased blood-brain barrier permeability with thymidine phosphorylase deficiency.
Academic Article Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
Academic Article An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.
Academic Article Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1).
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 Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
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 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 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 Structural variation in the human genome.
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 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 Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article Schizophrenia: Incriminating genomic evidence.
Academic Article Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 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 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 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 Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
Academic Article Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
Academic Article Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article Personal genome research : what should the participant be told?
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 New mutations and intellectual function.
Academic Article Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
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 Genomic medicine and neurological disease.
Academic Article Whole-genome sequencing for optimized patient management.
Academic Article Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
Academic Article Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
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 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.
Academic Article Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.
Concept Humans
Concept Human Growth Hormone
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Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, X
Concept Chromosomes, Human, Y
Concept Human Genome Project
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Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 19
Concept Genome, Human
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
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Concept Chromosomes, Human, Pair 5
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Concept Chromosomes, Human, Pair 9
Concept Herpesvirus 4, Human
Concept Chromosomes, Human, Pair 22
Academic Article Brief report: regression timing and associated features in MECP2 duplication syndrome.
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 ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Academic Article Genetics. Genome mosaicism--one human, multiple genomes.
Academic Article Detection of clinically relevant copy number variants with whole-exome sequencing.
Academic Article Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.
Academic Article Replicative mechanisms for CNV formation are error prone.
Academic Article Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
Academic Article Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Academic Article Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Academic Article Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
Academic Article NR2F1 mutations cause optic atrophy with intellectual disability.
Academic Article Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Academic Article Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Academic Article High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
Academic Article Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Academic Article Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
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 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Academic Article Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
Academic Article De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
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 Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
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 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Academic Article Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Academic Article Germ-line and somatic DICER1 mutations in pineoblastoma.
Academic Article Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Academic Article Genetic and clinical analysis of ABCA4-associated disease in African American patients.
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 New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
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 Charcot-Marie-Tooth disease and pathways to molecular based therapies.
Academic Article Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Academic Article Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Academic Article Analysis of the ABCA4 genomic locus in Stargardt disease.
Academic Article Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Academic Article Molecular findings among patients referred for clinical whole-exome sequencing.
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 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Academic Article New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Academic Article CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.
Academic Article TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Academic Article FBN1 contributing to familial congenital diaphragmatic hernia.
Academic Article Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Academic Article Absence of heterozygosity due to template switching during replicative rearrangements.
Academic Article DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Academic Article PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
Academic Article Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
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 X-linked acrogigantism syndrome: clinical profile and therapeutic responses.
Academic Article Cognitive phenotypes and genomic copy number variations.
Academic Article Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Academic Article Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Academic Article Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Academic Article Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Academic Article Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article Assessing structural variation in a personal genome-towards a human reference diploid genome.
Academic Article Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article Somatic mosaicism: implications for disease and transmission genetics.
Academic Article Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?).
Academic Article Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.
Academic Article Non-coding genetic variants in human disease.
Academic Article Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Academic Article Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Academic Article DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Academic Article Altered neuronal network and rescue in a human MECP2 duplication model.
Academic Article Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
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 Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Academic Article Whole-Exome Sequencing in Familial Parkinson Disease.
Academic Article De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Academic Article Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Academic Article Chimeric transcripts resulting from complex duplications in chromosome Xq28.
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 A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Academic Article Novel genetic causes for cerebral visual impairment.
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 Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Academic Article Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Academic Article From genomic medicine to precision medicine: highlights of 2015.
Academic Article A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
Academic Article Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Academic Article DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
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 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Academic Article Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article Clinical genomics: from a truly personal genome viewpoint.
Academic Article Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Academic Article PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Academic Article Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
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 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Academic Article Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Academic Article Structural variation mutagenesis of the human genome: Impact on disease and evolution.
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 GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Academic Article Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
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 Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Academic Article Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Academic Article Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance.
Academic Article Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Academic Article Mechanisms for Complex Chromosomal Insertions.
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 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
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 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Academic Article Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis.
Academic Article MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
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 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 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 Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
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 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
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 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
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 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
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 Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
Academic Article Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Academic Article Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Academic Article Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.
Academic Article CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.
Academic Article Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
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 Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Academic Article De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Academic Article Phenotype expansion and development in Kosaki overgrowth syndrome.
Academic Article Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment.
Academic Article Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Academic Article Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Academic Article Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Academic Article The phenotypic spectrum of Xia-Gibbs syndrome.
Academic Article Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.
Academic Article Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Academic Article The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Academic Article Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Academic Article Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Academic Article Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Academic Article Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
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 A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Academic Article WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Academic Article Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Academic Article Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
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 Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
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.
Academic Article A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
Academic Article Genetic architecture of laterality defects revealed by whole exome sequencing.
Grant MUTATIONAL SIGNATURE(S) OF HUMAN GENOMIC REARRANGEMENT MECHANISMS
Grant Molecular basis of the craniofacial anomalies in SMS
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 Chromosome Rearrangements and Mental Retardation
Grant STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
Grant COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
Academic Article 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
Academic Article Ten years of Genome Medicine.
Academic Article A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Academic Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Academic Article Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Academic Article De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Academic Article Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Academic Article A Human in Human Genetics.
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.
Academic Article Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Concept Human Genetics
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 Reanalysis of Clinical Exome Sequencing Data.
Academic Article The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Academic Article Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Academic Article Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.
Academic Article Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Academic Article Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.
Academic Article Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.
Academic Article Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
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 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 Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Academic Article A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Academic Article A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Academic Article Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Academic Article Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Academic Article Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Academic Article Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
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 The Deep Genome Project.
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 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 Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Academic Article Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Academic Article Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Academic Article Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
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 Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Academic Article Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Academic Article Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
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 Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Academic Article Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
Academic Article Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
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 NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Academic Article Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Academic Article Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Academic Article Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome.
Academic Article MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Academic Article Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Academic Article Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
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 A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Academic Article Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Academic Article Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Academic Article Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
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 Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Academic Article Risk of sudden cardiac death in EXOSC5-related disease.
Academic Article Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Academic Article Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
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 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Academic Article Short stature and combined immunodeficiency associated with mutations in RGS10.
Academic Article Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Academic Article Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Academic Article Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Academic Article Clan genomics: From OMIM phenotypic traits to genes and biology.
Academic Article PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Academic Article Response to Biesecker et?al.
Academic Article Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Academic Article High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Academic Article Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Academic Article Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Academic Article Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Academic Article Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Academic Article Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Academic Article Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Academic Article Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Academic Article Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Academic Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Academic Article Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Academic Article Centers for Mendelian Genomics: A decade of facilitating gene discovery.
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 Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.
Academic Article Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Academic Article TLR7 gain-of-function genetic variation causes human lupus.
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 Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Academic Article Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
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 An ELF4 hypomorphic variant results in NK cell deficiency.
Academic Article A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Academic Article Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Academic Article Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Academic Article Functional characteristics of a broad spectrum of TBX6?variants in Mayer-Rokitansky-K?ster-Hauser syndrome.
Academic Article Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Academic Article A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Academic Article Biallelic variants in HECT E3 paralogs, HECTD4 and?UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Academic Article Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42?affected individuals.
Academic Article The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
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.
Academic Article Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Academic Article The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
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.
Academic Article Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Academic Article Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Academic Article SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Academic Article SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Academic Article Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome.
Academic Article Genomics in Clinical Practice.
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 Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Academic Article Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Academic Article Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
Academic Article Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Academic Article PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Academic Article Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Academic Article Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Academic Article Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Academic Article HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Academic Article ?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
Academic Article Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Academic Article Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Academic Article NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
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