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First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure

28. März 2024|

A second hotspot for pathogenic exon-skipping variants in CDC45

11. März 2024|

The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma

12. Februar 2024|

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

30. Januar 2024|

Treatment of AICA ribosiduria by suppression of de novo purine synthesis

6. Januar 2024|

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing

16. November 2023|

Analytical performance evaluation of a 523-gene ctDNA assay for next generation sequencing-based comprehensive tumor profiling in liquid biopsy samples

19. Oktober 2023|

Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer

18. Oktober 2023|

Tübingen model study: Large-scale introduction of rapid antigen testing in the population and the viral dynamics of SARS-CoV-2

6. Oktober 2023|

Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

13. Juli 2023|

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

13. Juli 2023|

Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

1. Juli 2023|

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis

22. Juni 2023|

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population

22. Juni 2023|

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family

19. Juni 2023|

De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia

13. Juni 2023|

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

6. Juni 2023|

MAIRA: Protein-based Analysis of MinION Reads on a Laptop

2. Juni 2023|

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

12. April 2023|

FOXI3 pathogenic variants cause one form of craniofacial microsomia

11. April 2023|

Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system

15. März 2023|

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology

10. März 2023|

Ex vivo proton spectroscopy (1 H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses

8. März 2023|

Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing

7. Februar 2023|

NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma

7. Februar 2023|

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

6. Februar 2023|

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

31. Januar 2023|

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

27. Januar 2023|

Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary

1. Januar 2023|

Neurodevelopmental disorder with dystonia due to SOX6 mutations

1. Dezember 2022|

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

30. November 2022|

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

16. November 2022|

Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective Observation

8. November 2022|

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

1. Oktober 2022|

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

1. Oktober 2022|

The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa

1. Oktober 2022|

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

14. September 2022|

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin

1. August 2022|

24. Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome.

11. Juli 2022|

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)

1. Juli 2022|

Evaluation of a laboratory-based high-throughput SARS-CoV-2 antigen assay

14. Juni 2022|

Zirkulierende Tumor-DNA (ctDNA) bei der Entdeckung von Rezidiven bei Melanompatienten mit adjuvanter Anti-PD-1-Therapie

1. Juni 2022|

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

17. Mai 2022|

Circulating tumor DNA (ctDNA) in the detection of relapse in melanoma patients with adjuvant anti-PD-1 therapy.

12. Mai 2022|

De novo variants in ATP2B1 lead to neurodevelopmental delay.

5. Mai 2022|

Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development

27. April 2022|

Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

1. Februar 2022|

Biomarkers Associated with Immune-Related Adverse Events under Checkpoint Inhibitors in Metastatic Melanoma.

8. Januar 2022|

Medizinethische Überlegungen zur prädiktiven und pränatalen genetischen Diagnostik und Beratung.

1. Januar 2022|

Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

29. Dezember 2021|

Trio exome sequencing is highly relevant in prenatal diagnostics.

27. Dezember 2021|

The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death.

13. Dezember 2021|

A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.

1. Dezember 2021|

Expanded phenotype of AARS1-related white matter disease.

1. Dezember 2021|

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

8. November 2021|

3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.

8. November 2021|

The phenotypic spectrum of PCDH12 associated disorders – Five new cases and review of the literature.

30. Oktober 2021|

Controlling my genome with my smartphone: first clinical experiences of the PROMISE system.

25. Oktober 2021|

Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.

1. Oktober 2021|

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

1. Oktober 2021|

Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma.

3. September 2021|

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.

1. September 2021|

Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.

1. August 2021|

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

15. Juni 2021|

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

15. Juni 2021|

The p.Ala2430Val mutation in filamin C causes a “hypertrophic myofibrillar cardiomyopathy”.

1. Juni 2021|

Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant.

26. Mai 2021|

The question of WGS’s clinical utility remains unanswered.

1. Mai 2021|

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

10. März 2021|

Identification of a New Genetic Mutation Associated With Peters Anomaly.

1. März 2021|

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.

27. Februar 2021|

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

23. Februar 2021|

Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions.

5. Februar 2021|

FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in glioma.

5. Februar 2021|

A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4 + and CD8 + T Cells in COVID-19 Patients.

1. Februar 2021|

Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report.

9. Januar 2021|

New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.

1. Januar 2021|

Genetic counseling: development of requirements, contents, and quality management in Germany.

1. Januar 2021|

Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular Carcinoma.

18. Dezember 2020|

The Neuromodulator-Encoding sadA Gene Is Widely Distributed in the Human Skin Microbiome

1. Dezember 2020|

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.

10. November 2020|

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

1. November 2020|

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

1. November 2020|

Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.

21. Oktober 2020|

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

15. Oktober 2020|

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.

7. Oktober 2020|

COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.

1. Oktober 2020|

Genetic Architecture of Inherited Retinal Degeneration in Germany: A Large Cohort Study From a Single Diagnostic Center Over a 9-year Period.

4. September 2020|

Differential diagnosis of vacuolar myopathies in the NGS era.

1. September 2020|

Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series.

1. September 2020|

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

20. August 2020|

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

6. August 2020|

Cancer Incidence and Spectrum Among Children With Genetically Confirmed Beckwith-Wiedemann Spectrum in Germany: A Retrospective Cohort Study.

1. August 2020|

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

1. August 2020|

Mutational and Phenotypic Expansion of ATP1A3-related Disorders: Report of Nine Cases.

30. Juli 2020|

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

11. Juli 2020|

The Patient as Genomic Data Manager – Evaluation of the PROMISE App

16. Juni 2020|

Depatux-M and temozolomide in advanced high-grade glioma.

6. Juni 2020|

Circulating Tumor DNA Correlates with Outcome in Metastatic Melanoma Treated by BRAF and MEK Inhibitors – Results of a Prospective Biomarker Study.

4. Juni 2020|

TMEM16A Deficiency: A Potentially Fatal Neonatal Disease Resulting From Impaired Chloride Currents.

2. Juni 2020|

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

24. Mai 2020|

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

1. Mai 2020|

Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?

28. April 2020|

Next-Generation Sequencing of Advanced GI Tumors Reveals Individual Treatment Options

30. März 2020|

Interference With Complex IV as a Model of Age-Related Decline in Synaptic Connectivity.

24. März 2020|

Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours.

12. März 2020|

Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.

2. März 2020|

Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.

1. Februar 2020|

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

1. Februar 2020|

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

1. Januar 2020|

The Genomic Impact of European Colonization of the Americas.

2. Dezember 2019|

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

1. Dezember 2019|

PEDIA: prioritization of exome data by image analysis.

1. Dezember 2019|

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

1. November 2019|

Peripheral PD-1+CD56+ T-cell frequencies correlate with outcome in stage IV melanoma under PD-1 blockade.

16. August 2019|

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

1. August 2019|

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

1. August 2019|

Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism.

29. Juli 2019|

Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma – results of a prospective biomarker study.

12. Juli 2019|

Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.

10. Juli 2019|

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

1. Juni 2019|

A case of X-linked retinoschisis with atypical fundus appearance.

1. Juni 2019|

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

1. Juni 2019|

Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.

1. Mai 2019|

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

1. Mai 2019|

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

26. April 2019|

Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.

1. April 2019|

The Parkinson’s disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.

14. März 2019|

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

1. März 2019|

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

1. März 2019|

Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas.

1. März 2019|

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.

1. März 2019|

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

7. Februar 2019|

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

31. Januar 2019|

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

1. Januar 2019|

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

1. Januar 2019|

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

1. Januar 2019|

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

27. November 2018|

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

1. November 2018|

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

1. November 2018|

Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.

1. Oktober 2018|

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

1. Oktober 2018|

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

1. September 2018|

Tdrd6a Regulates the Aggregation of Buc into Functional Subcellular Compartments that Drive Germ Cell Specification.

6. August 2018|

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

1. Juli 2018|

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.

1. Juli 2018|

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

1. Juni 2018|

A new mutation in enhanced S-cone syndrome.

1. Juni 2018|

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

1. Juni 2018|

Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.

1. Juni 2018|

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

1. Juni 2018|

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation.

25. Mai 2018|

McArdle’s disease: A differential diagnosis of idiopathic toe walking.

8. Mai 2018|

Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation.

1. Mai 2018|

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

26. April 2018|

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.

1. März 2018|

Genetic heterogeneity of primary lesion and metastasis in small intestine neuroendocrine tumors.

28. Februar 2018|

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report.

6. Februar 2018|

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

1. Februar 2018|

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

1. Februar 2018|

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3’UTR-encoded, aggregation-inducing motif.

1. Februar 2018|

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

1. Februar 2018|

Why is it necessary to examine retina when the patient suffers from aplastic anemia?

1. Januar 2018|

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

1. Januar 2018|

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

1. Dezember 2017|

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

1. Dezember 2017|

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

1. November 2017|

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis.

1. Oktober 2017|

Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

1. September 2017|

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

1. September 2017|

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.

8. August 2017|

The role of genetic testing in epilepsy diagnosis and management.

1. August 2017|

CDHR1 mutations in retinal dystrophies.

1. August 2017|

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

1. August 2017|

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

10. Juli 2017|

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

1. Juli 2017|

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

1. Mai 2017|

Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key.

1. Mai 2017|

Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.

1. Mai 2017|

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

1. April 2017|

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

1. März 2017|

Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14).

1. März 2017|

Intratumoral heterogeneity of intrahepatic cholangiocarcinoma.

28. Februar 2017|

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

1. Dezember 2016|

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

1. Dezember 2016|

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

22. November 2016|

Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformations.

12. November 2016|

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

1. November 2016|

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

13. Oktober 2016|

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

6. Oktober 2016|

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

13. September 2016|

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.

1. September 2016|

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

1. September 2016|

Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors.

1. August 2016|

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

1. August 2016|

Early-onset parkinsonism due to compound heterozygous POLG mutations.

1. August 2016|

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

12. Juli 2016|

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

5. Juli 2016|

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

7. Juni 2016|

Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

24. April 2016|

GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?

1. März 2016|

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

1. März 2016|

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.

1. März 2016|

No Dopamine Cell Loss or Changes in Cytoskeleton Function in Transgenic Mice Expressing Physiological Levels of Wild Type or G2019S Mutant LRRK2 and in Human Fibroblasts.

22. Februar 2016|

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

1. Februar 2016|

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

3. Dezember 2015|

Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations.

24. Oktober 2015|

Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

1. September 2015|

A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

1. September 2015|

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

1. September 2015|

SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.

1. August 2015|

Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.

4. Juli 2015|

Clinical variability in ataxia-telangiectasia.

1. Juli 2015|

Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1.

15. Mai 2015|

Phenotypic and molecular insights into CASK-related disorders in males.

12. April 2015|

Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy.

1. April 2015|

Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype.

1. April 2015|

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

1. April 2015|

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) – pure coincidence?

1. März 2015|

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

1. März 2015|

From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1.

1. März 2015|

The phenotypic spectrum of SCN8A encephalopathy.

3. Februar 2015|

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

15. Januar 2015|

Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.

1. Januar 2015|

Nucleic Acids as Molecular Diagnostics, Chapter 12: Genome, Exome, and Gene Panel Sequencing in a Clinical Setting.

1. Januar 2015|

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

1. Januar 2015|

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

1. Dezember 2014|

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

1. Dezember 2014|

Severe familial paroxysmal exercise-induced dyskinesia.

1. Oktober 2014|

Further delineation of the SATB2 phenotype.

1. August 2014|

MED12 overexpression is a frequent event in castration-resistant prostate cancer.

1. August 2014|

MED15, encoding a subunit of the mediator complex, is overexpressed at high frequency in castration-resistant prostate cancer.

1. Juli 2014|

Unusual variability of PRRT2 linked phenotypes within a family.

1. Juli 2014|

Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation.

1. Juli 2014|

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.

1. Juni 2014|

Multiple metachronous osteosarcomas in a patient with Li-Fraumeni syndrome.

1. Mai 2014|

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

1. Mai 2014|

Functional interaction of Parkinson’s disease-associated LRRK2 with members of the dynamin GTPase superfamily.

15. April 2014|

[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment.]

1. April 2014|

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

25. März 2014|

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

1. März 2014|

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

26. Februar 2014|

A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.

10. Januar 2014|

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

1. Januar 2014|

Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene.

1. Januar 2014|

GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy.

1. Januar 2014|

Monogenic human skin disorders.

1. Januar 2014|

Behavioral Deficits and Striatal DA Signaling in LRRK2 p.G2019S Transgenic Rats: A Multimodal Investigation Including PET Neuroimaging.

1. Januar 2014|

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

3. Dezember 2013|

Somatic copy number alterations by whole exome sequencing implicates YWHAZ and PTK2 in castration-resistant prostate cancer.

1. Dezember 2013|

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

1. September 2013|

Progressive ataxia associated with scarring skin lesions and vertical gaze palsy.

1. April 2013|

Handbook of Research on ICTs and Management Systems for Improving Efficiency in Healthcare and Social Care (2 Volumes). Chapter 47: ICT Aspects of Next-Generation-Sequencing Applied to Molecular Diagnostics.

1. April 2013|

Niemann-pick type c is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

19. März 2013|

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

15. März 2013|

[Genetic Diagnostic Testing in Inherited Retinal Dystrophies].

1. März 2013|

Characterization of peripheral hematopoietic stem cells and monocytes in Parkinson’s disease.

1. März 2013|

Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencing.

1. Januar 2013|

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

1. Dezember 2012|

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.

1. Dezember 2012|

Suicide attempt as the presenting symptom of c9orf72 dementia.

1. November 2012|

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

15. August 2012|

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

1. August 2012|

Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2.

1. Juni 2012|

Genetic testing in neurological diseases.

1. Juni 2012|

D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.

1. Mai 2012|

Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue.

1. Januar 2012|

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

1. Oktober 2011|

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

1. Dezember 2010|

Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik / Next-generation sequencing in genetic diagnostics.

1. November 2010|

ARHGEF7 (BETA-PIX) Acts as Guanine Nucleotide Exchange Factor for Leucine-Rich Repeat Kinase 2.

29. Oktober 2010|

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