Fachpublikationenaolgeiser2023-06-20T13:56:17+02:00

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Unsere wissenschaftlichen Beiträge

Kontinuierlich erweitern wissenschaftliche Erkenntnisse den Forschungsstand zur humangenetischen Diagnostik und zu den verfügbaren Therapien. Auch unser Team setzt sich engagiert in der Forschung ein und veröffentlicht jährlich verschiedenste Fachpublikationen rund ums Thema Humangenetik, Diagnostik und Präzisionsmedizin.

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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|

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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