Human Mutation - 2010

271 articles | Last updated: 2025-12-03 14:12:57

Caucasian

White

European

Other

Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Stepwise Functional Assessment of Unclassified DNA Variants
“Mutation in brief” online articles discontinued-introducing “brief reports”
Evaluating Mutant mtDNA Tissue Distribution in Early Fetal Development
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization
Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
Statistical inference of allelic imbalance from transcriptome data
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system
SOX17 Mutations Implicated in Urinary Tract Abnormalities
A Foundation for a Community Consortium in an Inherited Disease and Complete Mutation Collection
Triangulating in on Chimps, Neanderthals, and Man
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
Legius syndrome in fourteen families
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations
One of the Reasons Why Humans, and not Sponges or Worms, get Psychiatric Disorders?
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
Expanded Carrier Screening in the Ashkenazi Jewish Population
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups
How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
The ribosomal basis of diamond-blackfan anemia: mutation and database update
MET mutations in cancers of unknown primary origin (CUPs)
Evaluation of germline BMP4 mutation as a cause of colorectal cancer
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)
Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions
COLD PCR HRM: a highly sensitive detection method for IDH1 mutations
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
Impact of DNA physical properties on local sequence bias of human mutation
BAK1 gene variation and abdominal aortic aneurysms-results may have been prematurely overrated
A Rare Novel Tyrosine Hydroxylase Gene Deletion in Parkinson Disease
A response to: BAK1 gene variation and abdominal aortic aneurysms-results may have been prematurely overrated. Questions of sequence fidelity, intraorganismal genetic heterogeneity, the nature of pseu
LSDBs: Promise and Challenges
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya
Detection of clinically relevant exonic copy-number changes by array CGH
Adenine DNA glycosylase activity of 14 Human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer
Generation and analysis of the thiazide-sensitive Na+-Cl− cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome
Increased sensitivity of KRAS mutation detection by high-resolution melting analysis of COLD-PCR products
Understanding the Detailed Structural Effects of Missense Mutations
Contribution of Telomere Maintenance-Associated Genes to Telomere Length
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1
Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
On genomic DNA paradigms, research publications, and scholarly inquiry
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization
LQTS gene LOVD database
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa
MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets
Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias					✓				European autosomal dominant cerebellar ataxias
Leiden open variation database of the MUTYH gene
miRNA genes and the brain: implications for psychiatric disordersa
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
CEP290, a gene with many faces: mutation overview and presentation of CEP290base
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
Mutations in GDF5 presenting as semidominant brachydactyly A1
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2
ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa
pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses
Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex
Genetic modulation of TLR8 response following bacterial phagocytosis
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency
Novel tools for extraction and validation of disease-related mutations applied to fabry disease
Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome
Transcriptional and translational effects of intronic CAPN3 gene mutations
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations
Next Gen Exome Sequencing Reveals Mutations in a Rare Recessive Disorder
UMD-CFTR: A database dedicated to CF and CFTR-related disorders
The association of telomere length and genetic variation in telomere biology genesa
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype
A Possible Role for JARID2 in Cleft Lip and Palate
South East Asian CNVs Captured
The Alport syndrome COL4A5 variant database
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency
MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancera
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease
Analysis of mutations causing biotinidase deficiencya
Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type
Computational analysis of missense mutations causing Snyder-Robinson syndrome
Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma
A mutation database for amyotrophic lateral sclerosis
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair
Type I hyperprolinemia: genotype/phenotype correlations
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12
KvDB; mining and mapping sequence variants in voltage-gated potassium channels
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
The Mutome and the 100,000 Mutation Milestone
Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate
SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies
HGV2009 meeting: bigger and better studies provide more answers and more questions
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
Cystathionine β-synthase mutations: effect of mutation topology on folding and activity
Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome
Short rare MUC6 minisatellites-5 alleles influence susceptibility to gastric carcinoma by regulating gene
dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancer
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Genomic copy number variations in three Southeast Asian populations
ARX spectrum disorders: making inroads into the molecular pathology
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
Are we overestimating the penetrance of mutations in SDHB?
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function
An interactive web-tool for molecular analyses links naturally occurring mutation data with three-dimensional structures of the rhodopsin-like glycoprotein hormone receptors
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia
Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)
The value of countrywide mutation reporting
Toward a cellular model of microvillus inclusion disease
Assessment of complement C4 gene copy number using the paralog ratio test
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
Mutations in SOHLH1 gene associate with nonobstructive Azoospermia
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia
Design and validation of a metabolic disorder resequencing microarray (BRUM1)
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
Reversal of pathogenic mutations in Hunter syndrome by an RNA-editing-like mechanism?
Deeper understanding of unclassified intronic variants and ESEs
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP
Predicting functional significance of cancer-associated p16INK4a mutations in CDKN2A
Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B
EYS is a major gene for rod-cone dystrophies in France
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
KMeyeDB: a graphical database of mutations in genes that cause eye diseases
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
Role of SFRS13A in low-density lipoprotein receptor splicing
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
<i>FOXL2</i>copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Performance of protein stability predictors
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
Prevalent<i>LIPH</i>founder mutations lead to loss of P2Y5 activation ability of PA-PLA<sub>1</sub>α in autosomal recessive hypotrichosis
Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenes
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model
Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients
Functional<i>PMS2</i>hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event
Multiple<i>LRRK2</i>variants modulate risk of Parkinson disease: a Chinese multicenter study
Functional evaluation of paraplegin mutations by a yeast complementation assay
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroi
Mutation clusters offer insight into predicting pathogenicity
Cell-free assay breakthrough for<i>MLH1</i>variants
The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells
Genetic analysis of von Hippel-Lindau disease
Massively parallel sequencing of ataxia genes after array-based enrichment
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation
The Roche Cancer Genome Database (RCGDB)
Impact of next generation sequencing: The 2009 Human Genome Variation Society Scientific Meeting
High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency
Genetic diagnosis of familial breast cancer using clonal sequencing
Quantifying the effect of sequence variation on regulatory interactions
ΔN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region
Review and update of mutations causing Waardenburg syndrome
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency
The deep intronic c.903+469T>C mutation in the <i>MTRR</i> gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE
Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes
Characterization of<i>BRCA1</i>and<i>BRCA2</i>deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study
Point of care mutation detection
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome
Spectrum of<i>SPATA7</i>mutations in Leber congenital amaurosis and delineation of the associated phenotype
An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history
Segregation of non-p.R132H mutations in<i>IDH1</i>in distinct molecular subtypes of glioma
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils
Cancer predisposing missense and protein truncating<i>BARD1</i>mutations in non-<i>BRCA1</i>or<i>BRCA2</i>breast cancer families
CanProVar: a human cancer proteome variation database
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases
Molecular and clinical analysis of<i>RAF1</i>in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Inferring the functional effects of mutation through clusters of mutations in homologous proteins
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci
Microsatellite instability in the peripheral blood leukocytes of HNPCC patients
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”
Exciton Primer-mediated SNP detection in SmartAmp2 reactions
Cell division cycle protein 73 homolog (<i>CDC73</i>) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
Extended runs of homozygosity at 17q11.2: an association with type-2<i>NF1</i>deletions?
dbSNP in the detail and copy number complexities
Database overkill
A thorough assessment of benign genetic variability in<i>GRN</i>and<i>MAPT</i>
<i>NKX2-1</i>mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
Identifying functional promoter SNPs using allelic imbalance
Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significan
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6
A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han
αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on<i>ITGA2B</i>and<i>ITGB3</i>mRNA splicing, expression, and structure-function
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1
<i>MUTYH</i>mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients
<i>XPC</i>branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients
The most frequent<i>DCLRE1C</i>(<i>ARTEMIS</i>) mutations are based on homologous recombination events
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)
An updated and upgraded<i>L1CAM</i>mutation database
Mutations of tropomyosin 3 (<i>TPM3</i>) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
Alu-repeat-induced deletions within the<i>NCF2</i>gene causing p67-<i>phox</i>-deficient chronic granulomatous disease (CGD)
Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel
A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases
Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome
Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies
Detailed haplotype analysis at the<i>TP53</i>locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
Spectrum of<i>PEX6</i>mutations in Zellweger syndrome spectrum patients
<i>OBSL1</i>mutations in 3-M syndrome are associated with a modulation of<i>IGFBP2</i>and<i>IGFBP5</i>expression levels
Allelic imbalance (AI) identifies novel tissue-specific<i>cis-</i>regulatory variation for human<i>UGT2B15</i>
<i>BAK1</i>gene variation and abdominal aortic aneurysmsâVariants are likely due to sequencing of a processed gene on chromosome 20
Evaluation of SNPs in<i>miR-146a</i>,<i>miR196a2</i>and<i>miR-499</i>as low-penetrance alleles in German and Italian familial breast cancer cases							✓		German and Italian
<i>ADAMTS13</i>mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
A specific mutation in the distant sonic hedgehog (<i>SHH</i>)<i>cis</i>-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and pr
Common pathological mutations in<i>PQBP1</i>induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon
Response to:<i>BAK1</i>gene variation and abdominal aortic aneurysmsâVariants are likely due to sequencing of a processed gene on chromosome 20
Identification of a<i>DMBT1</i>polymorphism associated with increased breast cancer risk and decreased promoter activity
Identification of novel truncated androgen receptor (AR) mutants including unreported pre-mRNA splicing variants in the 22Rv1 hormone-refractory prostate cancer (PCa) cell line
Crigler-Najjar syndrome in The Netherlands: Identification of four novel<i>UGT1A1</i>alleles, genotypeâphenotype correlation, and functional analysis of 10 missense mutants
A new locus-specific database (LSDB) for mutations in the folliculin (<i>FLCN</i>) gene
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
Analysis of human<i>CYP1A1</i>and<i>CYP1A2</i>genes and their shared bidirectional promoter in eight world populations
Tumor risks and genotypeâphenotypeâproteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i>
Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease