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Author Details

Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
2004
234
50
PMIDPaper TitleJournal TitlePublished Year
36264537Ex vivo proton spectroscopy (<sup>1</sup> H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.NMR Biomed2023
37808847Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features.medRxiv2023
37454282Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.Genet Med2023
37347054The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A &gt; G (p.Tyr64Cys) variant in <i>CDC42</i>: a case report.Front Genet2023
37043503Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Brain2023
37041148FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nat Commun2023
36974069The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.medRxiv2023
37438890Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.Ear Hear2023
37369202Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.Am J Hum Genet2023
37431483Homozygous mutation in <i>CSF1R</i> causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS).Bioimpacts2023
37332650Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.Mov Disord Clin Pract2023
36749424NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma.J Cancer Res Clin Oncol2023
36915613Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system.Neurooncol Adv2023
36769033Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.Int J Mol Sci2023
36426740Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.Am J Med Genet A2023
36703628Case report: <i>KPTN</i> gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.Front Neurol2023
36793789The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.Brain Commun2023
36755093Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.Nature2023
34327816Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Acta Ophthalmol2022
35699229Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin.Mov Disord2022
35790048WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.Hum Mutat2022
35555861Circulating tumor DNA (ctDNA) in the detection of relapse in melanoma patients with adjuvant anti-PD-1 therapy.J Dtsch Dermatol Ges2022
35851598Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.Brain2022
35711040Zirkulierende Tumor-DNA (ctDNA) bei der Entdeckung von Rezidiven bei Melanompatienten mit adjuvanter Anti-PD-1-Therapie.J Dtsch Dermatol Ges2022
36467423Somatic mosaicism in <i>STAG2</i>-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.Front Cell Dev Biol2022
36493766Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.Klin Monbl Augenheilkd2022
35970914KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.Eur J Hum Genet2022
36069193Neurodevelopmental disorder with dystonia due to SOX6 mutations.Mol Genet Genomic Med2022
36366390Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective Observation.Vaccines (Basel)2022
35886001Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.Genes (Basel)2022
36082049Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in <i>ADGRL3</i> (<i>LPHN3</i>) and Two Pseudogenes.Appl Clin Genet2022
35101151Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.Neurol Res Pract2022
34967012Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.Clin Genet2022
35137040Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.Glycobiology2022
34897640The novel TRPM4 c.448G&gt;T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death.Cardiol J2022
34958143Trio exome sequencing is highly relevant in prenatal diagnostics.Prenat Diagn2022
34647648Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.Mov Disord2022
34753855Diagnostic 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.Ear Hear2022
34596301Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.Mov Disord2022
32487539TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.J Med Genet2021
33852760Mapping Spatial Genetic Landscapes in Tissue Sections through Microscale Integration of Sampling Methodology into Genomic Workflows.Small2021
33791999Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.Neuropediatrics2021
33597733The question of WGS's clinical utility remains unanswered.Eur J Hum Genet2021
33673512Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa.Int J Mol Sci2021
33816677Novel Mutation in the <i>TSFM</i> Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions.Mov Disord Clin Pract2021
33802230Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders.Int J Mol Sci2021
33498938Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.Biomolecules2021
34878559[What is confirmed in the diagnostics of autoinflammatory fever diseases?]Internist (Berl)2021
34423067Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.Child Neurol Open2021
34480077Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma.NPJ Precis Oncol2021
  • 1 - 50 of 234

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Collaborators

Max Schubach
Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin
Co-authored papers 11
Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 11
Janine Reunert
University Children's Hospital Munster
Co-authored papers 10
Valina L Dawson
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Co-authored papers 9
Ted M Dawson
Johns Hopkins University School of Medicine
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Ingo Helbig
Children's Hospital of Philadelphia
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Katarina Stingl
University Eye Hospital, University of Tubingen
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Thomas Dorn
Universitat Rostock
Co-authored papers 6
Deborah Bartholdi
Co-authored papers 6
Martin Zenker
Co-authored papers 5
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Co-authored papers 5
Julien H Park
Umea University
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Ghazaleh Tabatabai
University Hospital Tubingen, Eberhard-Karls-University Tubingen
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Lars Zender
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Ingrid E Scheffer
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Tim M Strom
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Sanjay M Sisodiya
UCL Institute of Neurology
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Siddharth Banka
University of Manchester
Co-authored papers 3
James R Lupski
Baylor College of Medicine
Co-authored papers 3
Malte Spielmann
Max Planck Institute for Molecular Genetics
Co-authored papers 3
Matthias Schwab
and of Biochemistry and Pharmacy, University of Tuebingen
Co-authored papers 3
Peter Lichtner
Co-authored papers 3
Denise Horn
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 3
Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
Co-authored papers 3
Peter Heutink
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 2
Julie S Cohen
Kennedy Krieger Institute
Co-authored papers 2
Peter Martus
Eberhard Karls University of Tuebingen
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Gustavo Glusman
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Release 1.2