Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

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Thiele, Holger
One or more keywords matched the following items that are connected to Thiele, Holger
Item TypeName
Academic Article A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
Academic Article Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Academic Article Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Academic Article Investigation of GRIN2A in common epilepsy phenotypes.
Academic Article A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Academic Article Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.
Academic Article Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
Academic Article Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Academic Article A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Academic Article The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Academic Article A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Academic Article Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Academic Article Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Academic Article A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.
Academic Article Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Academic Article Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Academic Article De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Academic Article Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Academic Article An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Academic Article MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Academic Article A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Academic Article Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Academic Article Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Academic Article Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Academic Article BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Academic Article Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Academic Article Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
Academic Article IG-MYC+ neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas.
Academic Article A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Academic Article Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Academic Article A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Academic Article Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Academic Article DEPDC5 mutations in genetic focal epilepsies of childhood.
Concept Phenotype
Academic Article Mutations in TAF8 cause a neurodegenerative disorder.

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