Poster No. | Poster Title / Author |
P-1 | Compound library screening to modulate the tumor-like proliferation of CCM3 knockout endothelial cells (A-186) Janne Lea Feldmann, Greifswald (Germany) |
P-2 | TAU splice isoform roles in development and disease: Avenues for therapeutic approaches (A-301) Hans Zempel, Cologne (Germany) |
P-3 | CNVs and Epimutations: Dual Alterations in Imprinting Disorders (A-306) Florian Kraft, Aachen (Germany) |
P-4 | QuantumDNA: an open-source computational framework for quantum physical simulations of energy and charge transfer in DNA (A-164) Dennis Herb, Ulm (Germany) |
P-5 | PRPF31-related retinal dystrophy due to a novel deep intronic variant (A-122) Larissa Mattern, Aachen (Germany) |
P-6 | Impact of cytosine methylation on the diffusion of charges along DNA: a quantum perspective (A-175) Mirko Rossini, Ulm (Germany) |
P-7 | Expansions in length of the polypurine∙polypyrimidine minisatellite in RPGR exon ORF15 occur at low frequency in human sperm (A-300) Ingrid Bader, Tuebingen (Germany) |
P-8 | Comparative transcriptional and epigenetic characterization of High-Grade B-cell Lymphoma with 11q aberration and Burkitt lymphoma (269) Isabelle Kraus, Potsdam (Germany) |
P-9 | Crossing the line: GJB2 a small gene with big impact for hearing loss shows epigenetic signature (A-320) Michaela Angelika Hedwig Hofrichter, Wuerzburg (Germany) |
P-10 | Recurrent pregnancy loss due to SYCP3 variants (A-234) Marina Evi Spörrer, Munich (Germany) |
P-11 | wirthdrawn |
P-12 | GestaltDM: Natural Language-Guided Synthesis of Patient Portraits for Rare Genetic Disorders (A-156) Aron Kirchhoff, Bonn (Germany) |
P-13 | FABIAN-variant 2: Improved prediction of variant effects on transcription factor binding (A-224) Robin Steinhaus, Berlin (Germany) |
P-14 | From Genome Analysis to Patient Counseling: The Use of Large Language Models in Genetics - Their Potential, Performance, and Limitations (A-283) Annemarie Faber, Hannover (Germany) |
P-15 | Large Language Models for Phenotype Extraction and Variant Prioritization Using Reasoning (A-163) Tanhim Islam, Aachen (Germany) |
P-16 | Finding genetic factors for eQTLs: Genetic variability of lymphangiogenesis in Collaborative Cross mice (A-233) Emily Melissa Brockmann, Erlangen (Germany) |
P-17 | PrimerDesigner: Automating Primer Design and Validation for Efficient Variant Confirmation (A-319) Oliver Kuechler, Berlin (Germany) |
P-18 | HPO-ira: Inter-rater agreement of HPO-based phenotyping (A-299) Dominik Seelow, Berlin (Germany) |
P-19 | Evaluation of AT/GC temperature-sensitive enrichment bias in relevant diagnostics genes (A-304) Veronika Scholz, Munich (Germany) |
P-20 | Analysis of clinically relevant large tandem repeats using nanopore sequencing (A-338) Silvia Madritsch, Vienna (Austria) |
P-21 | Withdrawn |
P-22 | A DevOps-inspired approach for using Emedgene in a clinical lab environment (A-372) Tobias Wohlfrom, Munich (Germany) |
P-23 | Deep-Learning-Based OCT Segmentation for Monitoring RP2-Associated Retinitis Pigmentosa Progression (A-294) Rozhin Bayati, Goettingen (Germany) |
P-24 | Genomic Homologous Repair Deficiency (HRD) as evidence type for classification of BRCA1/2 variants (A-230) Simon Schnaiter, Innsbruck (Austria) |
P-25 | Rare TCOF1 variants impact glioma risk via changes in rDNA copy number and rRNA levels (A-121) Frank Brand, Hannover (Germany) |
P-26 | Prostate Cancer Prevention Clinic for Men at Familial Risk of Prostate Cancer (ProFam-Risk) (A-312) Regina Rita Roth, Duesseldorf (Germany) |
P-27 | Standardized Digital Risk Assessment Incorporating PRS for Hereditary Breast and Ovarian Cancer (A-197) Rosanna Krakowsky, Leipzig (Germany) |
P-28 | Constitutional BRCA1 promoter methylation in 473 patients with ovarian cancer: Results of the observational AGO-TR1 study (NCT02222883) (A-208) Mohamad Kayali, Cologne (Germany) |
P-29 | Functional Analysis of VUS in Hereditary Breast and Ovarian Cancer Genes Through RNA Isoform Detection by Long-Range PCR and Nanopore Sequencing (A-220) Maria Anokhina, Cologne (Germany) |
P-30 | The intermediate penetrant variant BRCA1 R1699Q in the cohort of the Cologne Center of the German Consortium of Hereditary Breast and Ovarian Cancer (A-223) Natalie Herold, Cologne (Germany) |
P-31 | Analysis of germline variants in the cancer-associated gene MUTYH in 6213 hereditary breast and/or ovarian cancer cases (A-366) Melissa Schwab, Munich (Germany) |
P-32 | Expanding Risk Assessment: The Value of the PRS in Women with Breast Cancer Meeting German HBOC Criteria Without Detectable Monogenic Cause (A-347) Paulina Diepers, Leipzig (Germany) |
P-33 | Advancing rare disease diagnostics with whole transcriptome sequencing (A-194) Morghan C. Lucas, Munich (Germany) |
P-34 | Seamless Capture Integration for Accurate NGS-Based Applications (A-112) Ben Krajacich, San Diego (United States of America) |
P-35 | Biallelic inv(3)(q21q26.2)/GATA2::MECOM-rearrangement in AML: a diagnostic challenge (A-217) Birgitta Gläser, Basel (Switzerland) |
P-36 | Paired WES analysis of 781 FFPE tumour samples and matched normal tissue (FFPE or blood) reveals a high proportion of relevant germline variants (A-219) Verena Rickert-Zacharias, Heidelberg (Germany) |
P-37 | Screening for parental constitutional mosaicism for pathogenic SMARCB1 or SMARCA4 variants causing Rhabdoid Tumor Predisposition Syndrome (A-240) Alexandra G. Kouroukli, Ulm (Germany) |
P-38 | Questioning the Parent-of-Origin Effect in TRIM28-Associated Wilms Tumor Predisposition (A-178) Sofia D Augello, Aachen (Germany) |
P-39 | De novo occurrence of pathogenic variants in breast cancer core genes in (Germany) (A-341) Carlotta Dencker, Leipzig (Germany) |
P-40 | Resolution of a cryptic intragenic duplication in FLCN through combined nanopore DNA and RNA analyses (A-177) Pauline Wittig, Aachen (Germany) |
P-41 | Long-read sequencing reveals pathogenic short tandem repeat expansions in patients with movement disorders (A-247) Denny Popp, Leipzig (Germany) |
P-42 | SMN1 variants causing false-positive SMA newborn screening: Diagnostic pitfalls, functional insights, and clinical and therapeutic implications (A-132) Brunhilde Wirth, Cologne (Germany) |
P-43 | FindMe2care after two years: A platform empowering patients with genetic diagnoses (A-210) Christian Gebhard, Munich (Germany) |
P-44 | Genes4All the Video Game – a Serious Game as preparation for genetic counselling for neurodegenerative conditions (A-344) Camila Gabriel, Heidelberg (Germany) |
P-45 | Utility of genome sequencing in patients with features of 11p15.5 imprinting disorders: currently and in the future (A-160) Thomas Eggermann, Aachen (Germany) |
P-46 | Insights from the first year of genome sequencing under Genomic Sequencing Pilot Project (“Modellvorhaben Genomsequenzierung”) (A-198) Chen Du, Hannover (Germany) |
P-47 | Genotype and phenotype description in individuals with GYG1 variants - A case report and systematic review (A-285) Malou Schadeck, Lausanne (Switzerland) |
P-48 | IARS2-associated mitochondrial disorder: evidence for the common variant p.Glu708Lys as a hypomorphic allele (A-308) Ava Oberlack, Munich (Germany) |
P-49 | withdrawn |
P-50 | Clinical and Molecular Characterization of Adults with Cardio-Facio-Cutaneous Syndrome (A-324) Mert Karakaya, Dusseldorf (Germany) |
P-51 | Use of cell-free DNA from amniotic fluid supernatant in routine prenatal diagnostics (A-331) Paul Dremsek, Vienna (Austria) |
P-52 | Evaluation of communication and psychological distress in genetic counseling for familial breast and ovarian cancer (A-345) Andrea Götz, Leipzig (Germany) |
P-53 | Detection of large repeat expansions in FGF14 associated with Spinocerebellar Ataxia Type 27B (SCA27B) (A-360) Dagmar Nolte, Giessen (Germany) |
P-54 | MAPK8IP3-related neurodevelopmental disorder: insights into a variant-specific phenotypic spectrum via a large follow-up study (A-126) Amica Müller-Nedebock, Leipzig (Germany) |
P-55 | Diagnosing and exploring ALDH1A2-related disorder through integrated clinical, genomic, in silico and functional analyses (A-239) Anna Schaffeldt, Oldenburg (Germany) |
P-56 | Novel TECTA Variants Reveal Domain-Specific Pathways in Genetic Hearing Loss (A-302) Daniel Bengl, Wuerzburg (Germany) |
P-57 | From Face to Function: SEC24C Deficiency Mimics GPI-Anchor Biosynthesis Disorders (A-321) Alexej Knaus, Bonn (Germany) |
P-58 | Clinical and molecular findings in patients with primary lymphedema (A-152) Charlotte Kemper, Berlin (Germany) |
P-59 | Previously undescribed IQSEC2-variants in three female patients with intellectual developmental disorder (A-165) Johanna Naab, Dresden (Germany) |
P-60 | Incidental Findings in broad genetic testing: Preliminary Data from the German Model Project Genome Sequencing (Modellvorhaben Genomsequenzierung) (A-180) Julia Suh, Aachen (Germany) |
P-61 | Whole genome sequencing reveals two variants in ITGA6 as cause for a mild form of junctional Epidermolysis bullosa with pyloric atresia (A-227) Ann-Selin Onuk, Dresden (Germany) |
P-62 | Psoriasis – A monogenic disease after all? IFIH1 and its diverse phenotypes within a family (A-242) Vanessa Geiger, Munich (Germany) |
P-63 | Clinically relevant copy number variants (CNVs) in exomes of patients with inherited heart diseases (A-267) Maria Yusenko, Bochum (Germany) |
P-64 | Personalized Medicine: A Case Report of an Oncological Patient with Cardiogenetic Findings (A-287) Thomas Neumann, Halle (Saale) (Germany) |
P-65 | NAA15-Associated Disorder Beyond Childhood: Clinical Insights from Adult Patients (A-295) Manuel Michels, Duesseldorf (Germany) |
P-66 | Likely pathogenic hemizygous PLS3-variant as a rare cause of X-linked congenital diaphragmatic hernia in two deceased siblings and further relatives (A-297) Corinna Hendrich, Hannover (Germany) |
P-67 | Detection of deep intronic FBN1 and COL3A1 variants in a HTAD cohort using genome sequencing and SpliceAI prioritization (A-376) Felix Boschann, Berlin (Germany) |
P-68 | Two cases with de novo variants widen the spectrum of the recently described RAB5C -associated neurodevelopmental disorder (A-387) Julia Oswald, Goettingen (Germany) |
P-69 | Trio re-analysis of HPO-negative genomes with the MorbidGenes Panel identifies new diagnoses in children with (severe) developmental delay (A-277) Marlene Kullik, Oldenburg (Germany) |
P-70 | Clinical Relevance of Synonymous Single Nucleotide Variants (A-228) Johannes Ferl, Dresden (Germany) |
P-71 | GestaltMatcher analyses revealed specific facial gestalt in 97 patients with GRIN-related disorders (A-343) Vincent Strehlow, Leipzig (Germany) |
P-72 | Expanding the phenotype of a FAT1-associated syndrome (A-386) Juliane Maria Beuschlein, Berlin (Germany) |
P-73 | Maternally Inherited CDKN1C Splice-Site Variant Causing Recurrent Fetal IMAGe Syndrome (A-196) Alexander Schulz, Jena (Germany) |
P-74 | When Clinic and Genetics Diverge: Long-Term Survival in Atypical, Very Mild FOXF1 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (A-286) Lara Hartmayer, Hannover (Germany) |
P-75 | Previously undescribed and technically challenging insertion in the SCN5A gene in a family with Brugada syndrome (A-125) Birgit Eichhorn, Dresden (Germany) |
P-76 | Transcriptome-based Diagnostics in the Framework of Quality Assurance: Development of an External Ring Trial in Human Genetics (A-203) Ann-Kathrin Jaroszynski, Munich (Germany) |
P-77 | A NFIA-associated neurodevelopmental disorder with macrocephaly in two siblings born to a clinically unaffected mother (A-225) Maximilian Haas, Duesseldorf (Germany) |
P-78 | POMT1-related disorder presenting with exencephaly and occipital encephalocele (A-237) Jacqueline Ritz, Basel (Switzerland) |
P-79 | Using genome-sequencing to improve diagnostic yield in ACADSD (A-258) Angela Abad Perez, Berlin (Germany) |
P-80 | A severe and lethal neonatal phenotype of diffuse parenchymal lung disease in mosaic trisomy 21 (A-307) Vinzenz Paul Graf, Hannover (Germany) |
P-81 | Novel compound heterozygous variants in NT5C2 in three adult brothers from a European family highlight the disease progression in SPG45 (A-336) Annika Willms, Erlangen (Germany) |
P-82 | Expanding the genetic landscape of neurodevelopmental disorders: Insights into RNU4-2 and RNU2-2 variants (A-363) Katrin Fröbius, Giessen (Germany) |
P-83 | Identification of an intronic likely pathogenic HUWE1 variant in a patient with congenital heart defect, dysmorphic features and developmental delay (A-364) Lisa Siegmund, Munich (Germany) |
P-84 | Identification of a Novel Pathogenic Variant in TRPM3 in a Child with Global Neurodevelopmental Delay, Hypotonia and Cerebellar Vermis Hypoplasia (A-365) Alrun Hotz, Freiburg (Germany) |
P-85 | Cohort Screening Uncovers Treatable PKU Presenting as Early-Onset Parkinsonism. (A-131) Lisa Felicia Koll, Munich (Germany) |
P-86 | Assesing the Preventive Potential: Retrospective Evaluation of a Newly Developed Prevention Panel Applied to Genetically Solved Post-Diagnostic Cases (A-142) Nicolas Böhly, Munich (Germany) |
P-87 | Evaluation of Stakeholder Perspectives in the German Model Project on Genomics-Based Healthcare (A-183) Gunda Schwaninger, Innsbruck (Austria) |
P-88 | Evaluation of Patient Perspectives in the German Model Project on Genomics-Based Healthcare (A-185) Kathrin Taxer, Innsbruck (Austria) |
P-89 | Discrepant Results of Invasive and Non-Invasive Prenatal Testingin a Case of Confirmed Ring Chromosome 13 (A-264) Tabea Dittrich, Ulm (Germany) |
P-90 | Inherited Truncating Variant in MBD5-Associated Neurodevelopmental Disorder (MAND): Possible Evidence for Variable Expressivity or Reduced Penetrance (A-317) Bianca Greiten, Luebeck (Germany) |
P-91 | High Familial Penetrance of a 1.425 Mb 17q12 Microduplication: Clinical and Genetic Characterization of a Multigenerational Family (A-377) Anna-Sophie Liegmann, Luebeck (Germany) |
P-92 | All signs pointed in that direction – how a presumed Krabbe disease turned out to be an EIF2AK2-related LEUDEN syndrome (A-148) Cord-Christian Becker, Munich (Germany) |
P-93 | Novel case of HIST1H1E syndrome (H-hypotonia, I-intellectual disability, S-skeletal, T-testes/thyroid, H-heart, E-ectodermal) with milder phenotype (A-215) Berit Kolbinger-Beck, Freiburg (Germany) |
P-94 | A novel intron variant in the COL4A5 gene potentially causing Alport syndrome identified by genome sequencing (A-254) Isabel Kellner, Munich (Germany) |
P-95 | Genetic diagnostics in adults with neurodevelopmental disorders – coming of age (A-291) Ann-Kathrin Bauer, Oldenburg (Germany) |
P-96 | Double mosaicism in a patient with Wiedemann-Steiner-Syndrome (A-355) Karl Hackmann, Dresden (Germany) |
P-97 | Wiedemann-Steiner syndrome: Delineation of the clinical phenotype in adults (A-370) Friedrich Stock, Essen (Germany) |
P-98 | Adult hypophosphatasia with ectodermal dysplasia (A-380) Katalin Komlosi, Freiburg (Germany) |
P-99 | Pathogenic germline variant in ABL1 – just a rare connective tissue disease or much more? (A-190) Sarah Westeppe, Frankfurt (Germany) |
P-100 | The high phenotypic variability of Marfan syndrome:Consequences for diagnosis and personalized management (A-318) Johanna Nowitzky, Martinsried (Germany) |
P-101 | Phasing of complex CYP21A2 alleles in patients with Congenital Adrenal Hyperplasia (CAH) (A-128) Stephanie Kleinle, Munich (Germany) |
P-102 | Adding to the complexity of GREB1L-associated disorder: a family with a semi-dominant inheritance (A-151) Mirjana Gusic, Martinsried (Germany) |
P-103 | Full of Spleen: Atypical Presentation of a Patient With a Heterozygous RPSA Variant (A-201) Johanna Herwig, Hamburg (Germany) |
P-104 | Cardiomyopathy in an adult patient with ReNU syndrome: insights into cardiac involvement (A-353) Anna Möllring, Hamburg (Germany) |
P-105 | Oculocutaneous albinisim type III and ethics (A-367) Katrin-Janine Goldmann, Martinsried (Germany) |
P-106 | Bardet-Biedl syndrome 22 caused by biallelic IFT74 variants: New variant and extended phenotype (A-385) Rebecca Gembicki, Luebeck (Germany) |
P-107 | Familial Presentation of Nystagmus and Optic Nerve Hypoplasia in Noonan Syndrome with Loose Anagen Hair due to a PPP1CB Mutation (A-202) Maren Wenzel, Munich (Germany) |
P-108 | Partial CCT3 Deletion in a Patient with Global Developmental Delay, Hypotonia, Microcephaly and signs of connective tissue disorder - A Case Report (A-361) Philipp Weber, Neu-Ulm (Germany) |
P-109 | A common tandem duplication in the POLD1 gene in combination with an unknown SNV (A-144) Steffi Döhnert, Dresden (Germany) |
P-110 | First Adult Patient with SLC6A9-associated Glycine Encephalopathy: A Case Report (A-147) Elia Schlaich, Aachen (Germany) |
P-111 | withdrawn |
P-112 | Expanding the Diagnostic Spectrum of Kabuki Syndrome: Insights from a Mosaic KMT2D Variant and the Role of Epigenetic Profiling (A-199) Elisabeth Vatareck, Martinsried (Germany) |
P-113 | Episodic nystagmus as predominant phenotypic presentation: Supporting a genotype-phenotype correlation for FRMD5-related disorders (A-257) Suzette Block, Hamburg (Germany) |
P-114 | Third Patient With TRIO-Related Neurodevelopmental Disorder (TRIO-NDD) Caused By A Partial Deletion Of The TRIO Gene (A-282) Britta Hanker, Luebeck (Germany) |
P-115 | A de novo missense variant in CACNA1E found in a patient with early childhood autism, intellectual disability and language developmental disorder (A-359) Neftali Ramirez, Freiburg (Germany) |
P-116 | Detection of uniparental disomies in the context of whole exome trio analysis and case presentations (A-379) Niklas Hirschberger, Neu-Ulm (Germany) |
P-117 | “Eye of the Tiger” Sign Beyond NBIA: A Case Report and Review of the Literature (A-191) Luisa Weiss, Erlangen (Germany) |
P-118 | De novo JUN missense variant in a patient with autism, microcephaly, and intellectual disability – search for additional patients (A-226) Matthias Begemann, Aachen (Germany) |
P-119 | Expanding the genotypic and phenotypic spectrum of ROM1-associated macular dystrophy: evidence for a new pathogenic variant (A-268) Patrick Krätschmer, Hamburg (Germany) |
P-120 | Atypical Presentation of PURA Syndrome Mimicking Congenital Myopathy: Importance of Trio Sequencing (A-356) Franziska Langhammer, Freiburg (Germany) |
P-121 | A case of spinocerebellar ataxia due to two novel variants of uncertain significance in SETX (A-383) Katharina Freitag, Freiburg (Germany) |
P-122 | Novel BCL11A variant in a patient with Dias-Logan syndrome (A-368) Andreas Tzschach, Freiburg (Germany) |
P-123 | Host control of persistent Epstein-Barr virus infection (A-265) Axel Schmidt, Bonn (Germany) |
P-124 | Genetic analyses of a susceptibility locus for psoriatic arthritis unravel a common RUNX3 missense variant affecting differentiation of CD8+ T cells (A-275) Ulrike Hüffmeier, Erlangen (Germany) |
P-125 | Rare variant in NDUFS2 as a novel cause for autosomal dominant inherited Leigh syndrome with incomplete penetrance (A-274) Robert Kopajtich, Munich (Germany) |
P-126 | Molecular Genetic Insights into Alopecia Areata’s Association with Thyroid Autoimmunity (A-209) Hadis Abdolahzadeh, Bonn (Germany) |
P-127 | In-silico modeling of interactions between susceptibility genes for bipolar disorder and their effect in regulation of neurodevelopmental processes (A-309) Priyadarshini Thirunvaukkarasu, Basel (Switzerland) |
P-128 | Genetic variation in HLA, IGKV and HHEX loci influence mRNA vaccine-induced long-lasting humoral protection against COVID-19 (A-374) Barbara Puzek, Neuherberg (Germany) |
P-129 | Genome sequencing in patients with Long COVID - the „genomLC” study (A-231) Meike Bröckelmann, Bonn (Germany) |
P-130 | Cross-cohorts Calculations of Polygenic Risk Scores (A-262) Marie Arlt, Dresden (Germany) |
P-131 | withdrawn |
P-132 | DUCKS4: A comprehensive workflow for Nanopore sequencing analysis of Facioscapulohumeral Muscular Dystrophy (FSHD). (A-350) Tamara Löwenstern, Vienna (Austria) |
P-133 | Chromosome 8 gains in mosaic form: postnatal resolution of prenatal brain–renal anomalies (A-280) Mykyta Kachanov, Hamburg (Germany) |
P-134 | Characterization of a complex CHD2 structural variant using nanopore-based long-read sequencing (A-276) Ugo Sorrentino, Munich (Germany) |
P-135 | A novel association of 15q13.1q13.2 microdeletion with neurodevelopmental disorders and epilepsy (A-310) Florian J. Wopperer, Munich (Germany) |
P-136 | Second report of a de novo deletion of the non-coding exon 1 in NEXMIF in an adult female with intellectual disability and epilepsy (A-212) Radina Karaivanova, Aachen (Germany) |
P-137 | Patient with balanced translocation t(11;19)(p11.2;q13.2) and disruption of PHF21A causes developmental delay and behavioural problems (A-221) Ilona Dietze-Armana, Neu-Ulm (Germany) |
P-138 | De novo complex chromosomal rearrangements in a patient with global developmental delay, Dandy–Walker malformation, and facial dysmorphism (A-382) Lara Mellinger, Luebeck (Germany) |
P-139 | Molecular and Cytogenetic Characterization of a Monocentric derivative Y Chromosome in a Male Patient with Azoospermia and Short Stature (A-133) Veronika Böckl, Munich (Germany) |
P-140 | Girl with non-syndromic prenatal short stature and unbalanced X;15 translocation - A case highlighting fundamental genetic principles (A-246) Houda Souidi, Hannover (Germany) |
P-141 | Derivative chromosome 18 due to a cryptic complex rearrangement in a child with neurodevelopmental abnormalities and dysmorphic signs. (A-358) Sofia Marie Ruppert, Munich (Germany) |
P-142 | Prenatal Detection of Partial Trisomy 17q Mosaicism: Cytogenetic and Molecular Cytogenetic Characterization (A-232) Rachele Tofanelli, Munich (Germany) |
P-143 | Motor Coordination and Behavioral Deficits in a Mouse Model of KMT2B-Related Dystonia (A-289) Philip Harrer, Munich (Germany) |
P-144 | Intellectual disability and skin anomalies - an unexpected high rate of somatic mosaicism (A-113) Fei Song, Duesseldorf (Germany) |
P-145 | Sphingolipid and Phospholipid Homeostasis Disruption as a Pathogenic Mechanism in Neuroacanthocytosis Syndromes: Evidence from VPS13A and XK Disease (A-174) Gabriel Miltenberger-Miltenyi, München (Germany) |
P-146 | Fam134b-mediated ER-phagy is required for the humoral immune response (A-172) Christian Andreas Hübner, Jena (Germany) |
P-147 | Neofunctionalization of CELA2B: From pancreatic elastase to putative metabolic regulator (A-323) Liana Abramian, Hamburg (Germany) |
P-148 | Functional investigation of de novo variants in CNOT9 causing neurodevelopmental delay (A-161) Henry Oppermann, Leipzig (Germany) |
P-149 | Transcriptome-informed Genome Analysis in Neurodevelopmental Disorder (A-116) Andreas Fink, Erlangen (Germany) |
P-150 | Genetic testing in paroxysmal dyskinesia (A-157) Lena Antonietta Nothacker, Luebeck (Germany) |
P-151 | Endoplasmic reticulum storage of mutant haptoglobin as a cause of chronic liver damage (A-170) Amelie Stalke, Hannover (Germany) |
P-152 | Role of a complex allele in IL-1 family in pustular psoriasis and potential link to hormonal dysregulation (A-271) Mohammmad Deen Hayatu, Erlangen (Germany) |
P-153 | Novel adjacent dominant NARS1 variants in families with peripheral neuropathy (A-129) Danique Beijer, Aachen (Germany) |
P-154 | Sensory polyneuropathy-causing duplication variant in ATL3 leads to aberrant ER membrane shaping (A-173) Lena Franken, Aachen (Germany) |
P-155 | Expansion of molecular and clinical aspects of EPS8L2 (DFNB106)-associated hearing loss emphasizes a potential therapeutic window (A-119) Daniel Owrang, Goettingen (Germany) |
P-156 | LAMA5 deficiency disrupts ECM–WNT crosstalk in chondrogenesis and contributes to idiopathic short stature (A-346) Alexander Schulz, Erlangen (Germany) |
P-157 | A recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy (A-369) Josua Kegele, Tuebingen (Germany) |
P-158 | Biallelic pathogenic variants in SDHC are associated to a Leigh syndrome-like phenotype (A-123) Sharlaine Piel, Hamburg (Germany) |
P-159 | Phenotype of KRT10-nEDD-revertant-mosaic patients correlates with the localisation of the variant (A-292) Bettina Burger, Basel (Switzerland) |
P-160 | Biallelic GTF3C5 Variants Cause a Multisystem Developmental Disorder: Further Evidence for Gene–Disease Associatio (A-206) Anne Frederiksen, Kiel (Germany) |
P-161 | A de novo ALX4 frameshift variant expands the spectrum of dominant ALX4-related disorders (A-270) Nicole Cesarato, Bonn (Germany) |
P-162 | Whole-exome sequencing of a young adult sibling from a family affected by severe periodontitis revealed a functional premature stop codon in CD300C (A-333) Avneesh Chopra, Berlin (Germany) |
P-163 | Targeted Oxford Nanopore-based long-read sequencing of breast and ovarian cancer predisposition genes using adaptive sampling (A-188) Henriette Hinz, Greifswald (Germany) |
P-164 | Streamlining diagnostics in over 400 men with azoospermia – reliable detection of Y-chromosomal AZF deletions using genome sequencing (A-243) Isabell Schumann, Münster (Germany) |
P-165 | Analysis of short tandem repeat loci using long-read Oxford Nanopore (ONT) and Pacific Biosciences (PacBio) HiFi sequencing (A-181) Vitus Prokosch, Munich (Germany) |
P-166 | Integrative Long-Read and Bioinformatic Analysis of STRC and OTOA in Hearing Loss Diagnostics (A-339) Joshua Bopp, Würzburg (Germany) |
P-167 | Regulatory Pathways for the Validation of Omics-Based Diagnostics: European and National Implementation Frameworks (A-244) Annalisa Musola, Würzburg (Germany) |
P-168 | Exploring the limits of ultra-sensitive cfDNA duplex sequencing: relationships between input material, sequencing depth, and detection sensitivity (A-213) Andreas Risch, Munich (Germany) |
P-169 | Pharmacological Stimulation of Mitochondria in POLG-Spectrum Disorders: From Preclinical Models to Setup of an Early Intervention Clinical Trial (A-278) Hans Zempel, Cologne (Germany) |
P-170 | Towards establishment of photochemical approaches for genome-wide and targeted measurement of charge transfer through DNA (A-261) Sven Fauth, Ulm (Germany) |
P-171 | Genolator: A multimodal language model integrating genomic and structural data for functional protein queries utilizing natural language (A-179) Jeremias Krause, Aachen (Germany) |
P-172 | Evaluation Strategies in Trio Analyses within the Genomic Sequencing Pilot Project (“Modellvorhaben Genomsequenzierung”) (A-120) Sophie Pernickel, Hannover (Germany) |
P-173 | umi-pipeline-nf: A modular and scalable workflow for high-accuracy UMI-tagged nanopore sequencing analysis in human genetics (A-159) Stephan Amstler, Innsbruck (Austria) |
P-174 | Simultaneous angiosarcoma development in three family members with a POT1 variant: Unregulated telomerase activity and cancer predisposition (A-118) Nergis Güzel, Aachen (Germany) |
P-175 | A novel polygenic score for multiple myeloma predicts incident disease risk and progression from MGUS independent of clinical factors (A-388) Julian S. Wanner, Potsdam (Germany) |
P-176 | The spectrum of immunoglobulin heavy chain enhancer hijacking in chronic lymphocytic leukemia (A-214) Cosima Drewes, Ulm (Germany) |
P-177 | Allelic Missense Variants in FGF13A: Same Site, Different Syndrome, and a Caffeine Fix (A-216) Elisabeth Bosch, Erlangen (Germany) |
P-178 | Symptom Annotation Made Simple for Patients: Developing a Web-App for Symptom Documentation with the HPO in Collaboration with Rare Disease Patients (A-248) Janina Schönberger, Berlin (Germany) |
P-179 | Understanding Nicolaides-Baraitser Syndrome Beyond Childhood: Key Differences and Challenges in Adults (A-288) Svenja Dachkey, Duesseldorf (Germany) |
P-180 | Transferability of polygenic risk scores depending on demography and dominance coefficients (A-222) Leonie Fohler, Bonn (Germany) |
P-181 | Evidence that disruption of Discoidin Domain Receptor 2 contributes to palatemalformations through effects on the extracellular matrix (A-260) Julia Anna Capecki, Bonn (Germany) |
P-182 | The Impact of variants in LDHA on low density lipoprotein metabolism (A-127) Melina Musfeldt, Hamburg (Germany) |
P-183 | Integrating targeted Nanopore mRNA Sequencing into CFTR Variant Interpretation: Functional Evidence for Clinical Classification (A-149) Simone Ahting, Leipzig (Germany) |
P-184 | Histological and molecular characterisation of meiotic arrest due to M1AP and SHOC1 variants (A-204) Nadia Korthals, Muenster (Germany) |
P-185 | When single-modality testing falls short: GLS-related neurodevelopmental movement disorder as a unique example of multi-omics-driven diagnosis (A-145) Ivana Dzinovic, Munich (Germany) |
P-186 | Long-Read RNA sequencing reveals tissue-specific isoform landscapes for rare disease research (A-256) Maren Spaeter, Bad Homburg (Germany) |
P-187 | CITE-seq enables high-resolution profiling of rare neonatal immune cell populations (A-375) Paula Rothämel, Munich (Germany) |
P-189 | CFTR Complex Alleles in Individuals with Cystic Fibrosis Showing Limited Response to Elexacaftor/Tezacaftor/Ivacaftor (ETI) Triple Modulator Therapy (A-124) Maike Karnstedt, Leipzig (Germany) |
P-190 | Adeno-Associated Virus (AAV)-Based Gene Therapy Approach for the Treatment of L-2-Hydroxyglutaric Aciduria (A-207) Qiang Guo, Cologne (Germany) |
