Disease gene identification through next generation sequencing |
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Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy |
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The effect of enamel matrix derivative (Emdogain®) on gene expression profiles of human primary alveolar bone cells |
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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. |
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Error probabilities for local extrema in gene expression data |
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Evidence for 28 genetic disorders discovered by combining healthcare and research data |
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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities |
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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta |
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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome |
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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment |
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Exome sequencing in patients with chronic central serous chorioretinopathy |
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. |
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Extending the allelic spectrum at noncoding risk loci of orofacial clefting |
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FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations |
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Functional differences between mesenchymal stem cell populations are reflected by their transcriptome. |
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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency |
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Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence. |
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer |
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. |
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High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients |
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High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs |
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. |
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Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder |
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Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility |
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Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. |
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Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy |
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. |
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LRP5 variants may contribute to ADPKD |
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Massively parallel sequencing of ataxia genes after array-based enrichment |
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. |
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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains |
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MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human unrestricted somatic stem cells |
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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. |
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Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2 |
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability |
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. |
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MST1R mutation as a genetic cause of Lady Windermere syndrome. |
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Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy |
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia |
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling |
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan |
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Mutations in MED12 cause X-linked Ohdo syndrome |
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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis |
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome |
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. |
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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis |
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. |
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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway |
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Next Generation Genetic Testing for Retinitis Pigmentosa |
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NGS Datenanalyse und Qualitätskontrolle |
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Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). |
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Novel bioinformatic developments for exome sequencing |
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Novel genetic causes for cerebral visual impairment |
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis |
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations |
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De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. |
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome |
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Nuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration |
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Osteo-transcriptomics of human mesenchymal stem cells: accelerated gene expression and osteoblast differentiation induced by vitamin D reveals c-MYC as an enhancer of BMP2-induced osteogenesis |
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Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology |
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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies |
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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders |
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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa |
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Parent-of-origin-specific signatures of de novo mutations |
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Quantification of Phenotype Information Aids the Identification of Novel Disease Genes. |
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Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease. |
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture |
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Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome |
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Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture |
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases |
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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis |
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A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis |
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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia |
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Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability. |
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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). |
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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function |
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Unlocking Mendelian disease using exome sequencing |
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing |
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Use of animal models for exome prioritization of rare disease genes |
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Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis |
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Variants in CUL4B are associated with cerebral malformations |
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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability |
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Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis |
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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature |
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