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Author Details

Stefan Mundlos
Max Planck Institute for Molecular Genetics
1986
390
88
PMIDPaper TitleJournal TitlePublished Year
36308343A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.Am J Med Genet A2023
38071191Whole genome sequencing in families with oligodontia.Oral Dis2023
37582288AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.Blood Adv2023
37680470Fluid shear stress-modulated chromatin accessibility reveals the mechano-dependency of endothelial SMAD1/5-mediated gene transcription.iScience2023
37813867Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.Nat Commun2023
37566080Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters.Cells2023
35535962Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species.J Exp Zool B Mol Dev Evol2023
370855393D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma.Nat Commun2023
37381881Disruption of regulatory domains and novel transcripts as disease-causing mechanisms.Bioessays2023
37041138Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.Nat Commun2023
37142849Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells.Nat Genet2023
37202388Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.Nat Commun2023
37427568HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Genet Med2023
36779427Nosology of genetic skeletal disorders: 2023 revision.Am J Med Genet A2023
36641754Failure of digit tip regeneration in the absence of Lmx1b suggests Lmx1b functions disparate from dorsoventral polarity.Cell Rep2023
36755093Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.Nature2023
36928426Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.Nat Commun2023
343122463D or Not 3D: Shaping the Genome during Development.Cold Spring Harb Perspect Biol2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
36179666Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes.Cell2022
36309531Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.Nat Commun2022
35933356Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs.BMC Genomics2022
35095096Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).J Hum Genet2022
35064218Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet2022
35276006Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.J Clin Endocrinol Metab2022
35088940LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.Autism Res2022
35145301GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Nat Genet2022
34932975Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus.Mol Cell2022
35232478TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs.Genome Biol2022
34529262The Genetic Basis of Moyamoya Disease.Transl Stroke Res2022
34379057Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.J Med Genet2022
34744167Combining callers improves the detection of copy number variants from whole-genome sequencing.Eur J Hum Genet2022
33320377Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.J Inherit Metab Dis2021
33716164Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations.Bone2021
33568816Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.Nature2021
34436670Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.Hum Genet2021
34819668ecDNA hubs drive cooperative intermolecular oncogene expression.Nature2021
34433009Position effects at the FGF8 locus are associated with femoral hypoplasia.Am J Hum Genet2021
34421895One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.Front Immunol2021
34482537GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.Clin Genet2021
34159400Genome sequencing in families with congenital limb malformations.Hum Genet2021
33961779Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.Am J Hum Genet2021
33118644Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP).J Bone Miner Res2021
33402532A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Proc Natl Acad Sci U S A2021
32199341The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization.Curr Opin Genet Dev2020
31698100Split hand/foot malformation associated with 20p12.1 deletion: A case report.Eur J Med Genet2020
31958497Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.Osteoarthritis Cartilage2020
32036200Three-dimensional chromatin in disease: What holds us together and what drives us apart?Curr Opin Cell Biol2020
33090109Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.J Med Internet Res2020
33199677Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma.Nat Commun2020
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Collaborators

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Beyhan T??ys??z
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Sandra C Doelken
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Bruno Dallapiccola
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David Sillence
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Sebastian Bauer
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Release 1.2