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Lista de obras de Peter Nürnberg

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.

artículo científico publicado en 2008

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10

artículo científico publicado en 2002

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

artículo científico publicado en 2017

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

artículo científico publicado en 2017

A comprehensive linkage analysis for myocardial infarction and its related risk factors

artículo científico publicado en 2002

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

artículo científico publicado en 2013

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

artículo científico publicado en 2017

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

artículo científico publicado en 2012

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

artículo científico publicado en 2002

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

artículo científico publicado en 2007

A genomic view on epilepsy and autism candidate genes

artículo científico publicado en 2016

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

artículo científico publicado en 2004

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

artículo científico publicado en 2012

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

artículo científico publicado en 2014

A large deletion in RPGR causes XLPRA in Weimaraner dogs

artículo científico publicado en 2016

A large duplication involving the IHH locus mimics acrocallosal syndrome

artículo científico publicado en 2012

A mechanistic classification of clinical phenotypes in neuroblastoma

artículo científico publicado en 2018

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

artículo científico publicado en 2014

A molecular biomarker to diagnose community-acquired pneumonia on intensive care unit admission

artículo científico publicado en 2015

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

artículo científico publicado en 2012

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

artículo científico publicado en 2009

A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?

artículo científico publicado en 2009

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

artículo científico publicado en 2012

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

artículo científico publicado en 2013

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

artículo científico publicado en 2009

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

artículo científico publicado en 2015

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

artículo científico publicado en 2013

A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany

artículo científico publicado en 2009

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

artículo científico

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient

artículo científico publicado en 2010

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

artículo científico publicado en 2008

A novel standardization method for two-dimensional DNA fingerprints

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

artículo científico publicado en 2015

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

artículo científico publicado en 2015

A systematic approach to mapping recessive disease genes in individuals from outbred populations

artículo científico publicado en 2009

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

artículo científico publicado en 2016

A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy.

artículo científico publicado en 2015

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

artículo científico publicado en 2012

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

artículo científico publicado en 2005

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

artículo científico publicado en 2017

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

artículo científico publicado en 2017

Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome

artículo científico publicado en 2009

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders.

artículo científico publicado en 2014

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

artículo científico publicado en 2009

Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.

artículo científico publicado en 2007

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

article

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity

artículo científico publicado en 2012

Application of genomewide SNP arrays for detection of simulated susceptibility loci

artículo científico publicado en 2005

Assessing the enrichment performance in targeted resequencing experiments

artículo científico publicado en 2012

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

artículo científico publicado en 2016

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

artículo científico publicado en 2009

Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population

artículo científico publicado en 2005

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

artículo científico publicado en 2005

Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients

artículo científico

Association of NADPH oxidase polymorphisms with anthracycline-induced cardiotoxicity in the RICOVER-60 trial of patients with aggressive CD20(+) B-cell lymphoma

artículo científico publicado en 2015

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

artículo científico publicado en 2017

Association of diabetes and diabetes treatment with the host response in critically ill sepsis patients

artículo científico

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

artículo científico publicado en 2002

Association of the serum and glucocorticoid regulated kinase (sgk1) gene with QT interval

artículo científico publicado en 2004

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

artículo científico publicado en 2012

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

artículo científico publicado en 2013

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

artículo científico publicado en 2015

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

artículo científico publicado en 2018

Benchmarking of mutation diagnostics in clinical lung cancer specimens

artículo científico publicado en 2011

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

artículo científico publicado en 2015

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

artículo científico publicado en 2008

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

artículo científico publicado en 2013

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

artículo científico publicado en 2015

CD74-NRG1 fusions in lung adenocarcinoma

artículo científico publicado en 2014

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

artículo científico publicado en 2013

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

artículo científico publicado en 2011

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

artículo científico publicado el 1 de noviembre de 2010

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

artículo científico publicado en 2011

Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study

artículo científico publicado en 2017

Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history

artículo científico publicado en 2013

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

artículo científico publicado en 2010

Co-replication analyses of naturally occurring defective hepatitis B virus variants with wild-type

artículo científico publicado en 2007

CoNCoS: copy number estimation in cancer with controlled support.

artículo científico publicado en 2015

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

artículo científico publicado en 2015

Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients

artículo científico publicado en 2016

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy

artículo científico publicado en 2016

Compound heterozygous ASPM mutations in Pakistani MCPH families

scholarly article by Farooq Muhammad et al published 7 April 2009 in American Journal of Medical Genetics

Comprehensive genomic profiles of small cell lung cancer

artículo científico publicado en 2015

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss

scientific article published on 11 April 2020

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

artículo científico publicado en 2009

Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations

artículo científico publicado en 2006

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

artículo científico publicado en 2017

Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models

artículo científico publicado en 2018

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

artículo científico publicado en 2010

Control of mitogenic and motogenic pathways by miR-198, diminishing hepatoma cell growth and migration

artículo científico publicado en 2013

Correlation between genetic and geographic structure in Europe

artículo científico publicado en 2008

DEPDC5 mutations in genetic focal epilepsies of childhood.

artículo científico publicado en 2014

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

artículo científico publicado en 2017

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease

artículo científico publicado en 2006

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

artículo científico publicado en 2009

Demographic history of Oceania inferred from genome-wide data

artículo científico publicado en 2010

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

artículo científico publicado en 2006

Distinct genetic variation and heterogeneity of the Iranian population

scientific article published on 24 September 2019

Distinct methylation profiles of glioma subtypes

artículo científico publicado en 2003

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

artículo científico publicado en 2013

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

artículo científico publicado en 2009

Dysfunction of the MDM2/p53 axis is linked to premature aging

artículo científico

Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span

artículo científico publicado en 2013

Efficacy assessment of SNP sets for genome-wide disease association studies

artículo científico publicado en 2007

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

artículo científico publicado en 2014

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

artículo científico publicado en 2013

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

artículo científico publicado en 2016

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis

artículo científico publicado en 2002

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.

artículo científico publicado en 2001

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies

article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

artículo científico publicado en 2016

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

artículo científico publicado en 2017

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

artículo científico publicado en 2015

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

artículo científico publicado en 2018

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

artículo científico publicado en 2014

Exploration of the genetic architecture of idiopathic generalized epilepsies

artículo científico publicado en 2006

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

artículo científico publicado en 2015

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy

artículo científico publicado en 2002

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

scientific article published on 26 October 2019

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

artículo científico publicado en 2012

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

artículo científico publicado en 2015

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

artículo científico publicado en 2014

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

artículo científico publicado en 2009

Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis

artículo científico publicado en 2006

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy

artículo científico publicado en 2004

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

artículo científico publicado en 2008

GENOMIZER: an integrated analysis system for genome-wide association data

artículo científico publicado en 2006

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

artículo científico publicado en 2014

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome

artículo científico publicado en 2005

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2018

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis

artículo científico publicado en 2004

Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity

artículo científico publicado en 2006

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

artículo científico publicado en 2009

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms

artículo científico publicado en 2010

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy

artículo científico publicado en 2005

Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations

artículo científico publicado en 2006

Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research

artículo científico

Genome scan for childhood and adolescent obesity in German families

artículo científico publicado en 2003

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

artículo científico publicado en 2008

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians

artículo científico publicado en 2008

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

artículo científico publicado en 2010

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

artículo científico publicado en 2012

Genome-wide linkage analysis of malaria infection intensity and mild disease

artículo científico publicado en 2007

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification

artículo científico publicado en 2005

Genomewide Linkage Analysis Identifies Novel Genetic Loci for Lung Function in Mice

article

Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.

artículo científico publicado en 2005

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

artículo científico publicado en 2017

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

artículo científico publicado en 2008

Gsdma3I359N is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis

Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol

artículo científico publicado en 2004

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

artículo científico publicado en 2017

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

artículo científico publicado en 2012

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome

artículo científico publicado en 2014

HomozygosityMapper--an interactive approach to homozygosity mapping

artículo científico publicado en 2009

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

artículo científico publicado en 2017

Homozygous truncating PTPRF mutation causes athelia

artículo científico publicado en 2014

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

artículo científico publicado en 2017

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

artículo científico publicado en 2008

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

artículo científico publicado en 2013

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

artículo científico publicado en 2016

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

artículo científico publicado en 2013

Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians

artículo científico publicado en 2007

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

artículo científico publicado en 2011

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

artículo científico publicado en 2009

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

artículo científico publicado en 2015

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

artículo científico publicado en 2008

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

artículo científico publicado en 2013

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients

artículo científico publicado en 2015

Incidence, Risk Factors, and Attributable Mortality of Secondary Infections in the Intensive Care Unit After Admission for Sepsis

artículo científico

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

artículo científico publicado en 2016

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

artículo científico publicado en 2013

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

artículo científico publicado en 2010

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

artículo científico publicado en 2013

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease

scientific article published on 20 February 2010

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

artículo científico publicado en 2012

Investigation of GRIN2A in common epilepsy phenotypes

artículo científico publicado en 2015

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

artículo científico publicado en 2010

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

artículo científico publicado en 2010

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

artículo científico publicado en 2007

Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow

artículo científico publicado en 2015

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

artículo científico publicado en 2005

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness

artículo científico publicado en 2016

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

artículo científico publicado en 2005

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

artículo científico publicado en 2011

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

artículo científico publicado en 2004

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

artículo científico publicado en 2008

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

artículo científico publicado en 2015

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

artículo científico publicado en 2011

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

artículo científico publicado en 2007

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

artículo científico publicado en 2002

Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene

artículo científico publicado en 2005

Mapping Genes for Polygenic Disorders: Considerations for Study Design in the Complex Trait of Inflammatory Bowel Disease

article

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

artículo científico publicado en 2002

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease

artículo científico publicado en 2016

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

artículo científico publicado en 2012

Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNP

artículo científico publicado en 2015

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

artículo científico publicado en 2007

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

artículo científico publicado en 2011

Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype

scientific journal article

Mutation of POC1B in a severe syndromic retinal ciliopathy

artículo científico publicado en 2014

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

artículo científico publicado en 2008

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

artículo científico publicado en 2012

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

artículo científico publicado en 2016

Mutations in CDK5RAP2 cause Seckel syndrome

artículo científico publicado en 2015

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

artículo científico publicado en 2014

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

artículo científico publicado en 2003

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

artículo científico publicado en 2009

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

artículo científico publicado en 2013

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

artículo científico publicado en 2011

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

artículo científico publicado en 2005

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

artículo científico publicado en 2013

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

artículo científico publicado en 2014

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

artículo científico publicado en 2004

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

artículo científico publicado en 2012

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

artículo científico publicado en 2009

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

artículo científico publicado en 2014

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

artículo científico publicado en 2007

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

artículo científico publicado en 2014

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

artículo científico publicado en 2010

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

artículo científico publicado en 2015

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

artículo científico publicado en 2003

Mutations in different components of FGF signaling in LADD syndrome

artículo científico publicado en 2006

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

artículo científico publicado en 2018

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

artículo científico publicado en 2002

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

artículo científico publicado en 2004

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

artículo científico publicado en 2003

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

artículo científico publicado en 2017

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

artículo científico publicado en 2017

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

article

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

artículo científico publicado en 2008

NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity

artículo científico publicado en 2005

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

artículo científico publicado en 2017

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

artículo científico publicado en 2016

New genetic evidence for involvement of the dopamine system in migraine with aura

artículo científico publicado en 2009

New universal primers facilitate Pyrosequencing

artículo científico publicado en 2006

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

artículo científico publicado en 2009

Next Generation Sequencing of miRNAs - Strategies, Resources and Methods

artículo científico publicado en 2010

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

artículo científico publicado en 2016

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

artículo científico publicado en 2015

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

artículo científico publicado en 2009

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

artículo científico publicado en 2007

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

artículo científico publicado en 2004

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

artículo científico publicado en 2011

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone

artículo científico publicado en 2016

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

artículo científico publicado en 2004

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

artículo científico publicado en 2015

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

artículo científico publicado en 2010

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

scientific journal article

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

artículo científico publicado en 2005

Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumors

artículo científico publicado en 2011

Plasma vascular endothelial growth Factor-A (VEGF-A) and VEGF-A gene polymorphism are associated with hydrocele development in lymphatic filariasis.

artículo científico publicado en 2007

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

scientific journal article

Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation

artículo científico publicado en 2006

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

artículo científico publicado en 2006

Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutations

scholarly article by Iris F Macheleidt et al published November 2018 in Molecular Oncology

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2022

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

artículo científico publicado en 2017

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

artículo científico publicado en 2013

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

artículo científico publicado en 2017

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

artículo científico publicado el 25 de enero de 2013

Rare gene deletions in genetic generalized and Rolandic epilepsies

artículo científico publicado en 2018

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

artículo científico publicado en 2015

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

artículo científico publicado en 2012

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

artículo científico publicado en 2013

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

artículo científico publicado en 2016

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

artículo científico publicado en 2013

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

artículo científico publicado en 2013

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

artículo científico publicado en 2013

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

artículo científico publicado en 2015

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

artículo científico publicado en 1996

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

artículo científico publicado en 2017

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

artículo científico publicado en 2009

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

artículo científico publicado en 2008

Regulation of ClC-2 gating by intracellular ATP.

artículo científico publicado en 2013

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population

artículo científico publicado en 2012

Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium

artículo científico publicado en 2010

Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample

artículo científico publicado en 2015

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

artículo científico publicado en 2005

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs

artículo científico publicado en 2006

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

artículo científico publicado en 2016

SOX9 duplication linked to intersex in deer

artículo científico publicado en 2013

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

artículo científico publicado en 2014

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

artículo científico publicado en 2012

Securing the use of existing sample collections for future human genetic research

artículo científico publicado en 2017

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

artículo científico publicado en 2009

Semi-automated cancer genome analysis using high-performance computing

artículo científico publicado en 2017

Sensitive detection of viral transcripts in human tumor transcriptomes

artículo científico publicado en 2013

Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human

article

Sex-dependent genetic markers of CYP3A4 expression and activity in human liver microsomes

artículo científico publicado en 2007

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

scientific journal article

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

artículo científico publicado en 2016

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation

artículo científico publicado en 2006

Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

artículo científico publicado en 2015

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin

artículo científico publicado en 2006

Systematic association mapping identifies NELL1 as a novel IBD disease gene

artículo científico publicado en 2007

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

artículo científico publicado en 2015

TGFβ signaling directs serrated adenomas to the mesenchymal colorectal cancer subtype

artículo científico publicado en 2016

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

artículo científico publicado en 2015

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

artículo científico publicado en 2012

Telomerase activation by genomic rearrangements in high-risk neuroblastoma

artículo científico publicado en 2015

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

artículo científico publicado en 2010

The Arg16Gly-β2-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure ⬇️

artículo científico publicado el 29 de agosto de 2010

The Impact of HIV Co-Infection on the Genomic Response to Sepsis

artículo científico publicado en 2016

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer

artículo científico publicado en 2016

The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants

artículo científico publicado en 2017

The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample

artículo científico publicado en 2009

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

artículo científico publicado en 2006

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda

artículo científico publicado en 2013

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

artículo científico publicado en 2013

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

artículo científico publicado en 2016

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

artículo científico publicado en 2013

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface

artículo científico publicado en 2016

Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters

artículo científico publicado en 2005

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

artículo científico publicado en 2010

Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients

artículo científico publicado en 2016

Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transporters

artículo científico publicado en 2006

Transcription factor activating protein 2 beta (TFAP2B) mediates noradrenergic neuronal differentiation in neuroblastoma

artículo científico publicado en 2015

Transcriptional profiling reveals progeroid Ercc1(-/Δ) mice as a model system for glomerular aging

artículo científico publicado en 2013

Transforming growth factor-β1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis

artículo científico publicado en 2011

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

artículo científico publicado en 2007

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

artículo científico publicado en 2016

Two-Dimensional DNA Fingerprinting

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation ⬇️

artículo científico publicado el 1 de julio de 2011

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

artículo científico publicado en 2022

Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study

artículo científico publicado en 2016

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

artículo científico publicado en 2010

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

artículo científico publicado en 2010

Whole-Exome Sequencing in Nine Monozygotic Discordant Twins

artículo científico publicado en 2015

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

artículo científico publicado en 2013

Wnt signaling and Dupuytren's disease

artículo científico publicado en 2011

X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women

artículo científico publicado en 2009

ZBTB17 ( MIZ1 ) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

article

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

artículo científico publicado en 2012

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

artículo científico publicado en 2008

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