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Author Details

Malte Spielmann
Max Planck Institute for Molecular Genetics
2005
102
32
PMIDPaper TitleJournal TitlePublished Year
36227713Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.J Med Genet2023
37482924Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism.Mov Disord2023
37552451Single-Cell Sequencing in Neurodegenerative Disorders.Mol Diagn Ther2023
37582288AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.Blood Adv2023
37813867Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.Nat Commun2023
37968388Single-cell, whole-embryo phenotyping of mammalian developmental disorders.Nature2023
37120078Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.Eur J Med Genet2023
37216008A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation.HGG Adv2023
37384296Clonal evolution in tyrosine kinase inhibitor-resistance: lessons from <i>in vitro</i>-models.Front Oncol2023
37211972Precision medicine in rare diseases: What is next?J Intern Med2023
37041138Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.Nat Commun2023
36972684Formin-mediated nuclear actin at androgen receptors promotes transcription.Nature2023
37202388Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.Nat Commun2023
37066300A single-cell transcriptional timelapse of mouse embryonic development, from gastrula to pup.bioRxiv2023
37427568HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Genet Med2023
36853234Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2023
36401619Comparative single-cell analysis of the adult heart and coronary vasculature.Mamm Genome2023
36715020Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development.Development2023
36689508When too much is too much: noncoding duplications in skin disorders.Br J Dermatol2023
36831254Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response.Cells2023
36755093Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.Nature2023
36411356Isocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA activation due to insulator disruption in acute myeloid leukemia (AML).Leukemia2023
36928426Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.Nat Commun2023
34744167Combining callers improves the detection of copy number variants from whole-genome sequencing.Eur J Hum Genet2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
35397658UBTF::ATXN7L3 gene fusion defines novel B cell precursor ALL subtype with CDX2 expression and need for intensified treatment.Leukemia2022
35790352The role of single-cell genomics in human genetics.J Med Genet2022
35790048WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.Hum Mutat2022
35460111Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation.Mov Disord2022
35692773Case Report: <i>GNAQ</i>- and <i>SF3B1</i> Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma.Front Oncol2022
35483875Computational and experimental methods for classifying variants of unknown clinical significance.Cold Spring Harb Mol Case Stud2022
36309531Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.Nat Commun2022
35962790Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2022
35288709Systematic reconstruction of cellular trajectories across mouse embryogenesis.Nat Genet2022
35216353Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.Int J Mol Sci2022
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
34210887Embryo-scale, single-cell spatial transcriptomics.Science2021
33568816Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.Nature2021
33760974Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes.Clin Oral Investig2021
33496083Single-cell profiling for advancing birth defects research and prevention.Birth Defects Res2021
34500469Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma.Blood Adv2021
34436670Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.Hum Genet2021
34433009Position effects at the FGF8 locus are associated with femoral hypoplasia.Am J Hum Genet2021
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
32470376Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.Am J Hum Genet2020
31698100Split hand/foot malformation associated with 20p12.1 deletion: A case report.Eur J Med Genet2020
33090109Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.J Med Internet Res2020
33184181A human cell atlas of fetal gene expression.Science2020
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Collaborators

Stefan Mundlos
Max Planck Institute for Molecular Genetics
Co-authored papers 53
Denise Horn
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 22
Ricarda Fl??ttmann
Max Planck Institute for Molecular Genetics
Co-authored papers 11
Bj??rn Fischer-Zirnsak
Max Planck Institute for Molecular Genetics FG Development and Disease
Co-authored papers 10
Uwe Kornak
Institute of Human Genetics, University Medical Center Gottingen
Co-authored papers 10
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Co-authored papers 9
Eva Klopocki
Institute for Human Genetics, University of Wurzburg
Co-authored papers 9
Jochen Hecht
The Barcelona Institute of Science and Technology
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Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
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Manuel Holtgrewe
Berlin Institute of Health
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Jay Shendure
University of Washington
Co-authored papers 6
Nadja Ehmke
Berlin Institute of Health at Charite - Universitatsmedizin Berlin
Co-authored papers 6
Marten J??ger
Charite Universitatsmedizin Berlin
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Sebastian K??hler
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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Claus-Eric Ott
Charite-Universitatsmedizin Berlin
Co-authored papers 4
Tomasz Zemojtel
Berlin Institute of Health (BIH)
Co-authored papers 4
Markus M N??then
Institute of Human Genetics, University Hospital Bonn
Co-authored papers 3
Axel Visel
Co-authored papers 3
Sandra C Doelken
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Co-authored papers 3
Axel K??nstner
University of Lubeck
Co-authored papers 3
Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 3
Suzanna E Lewis
Lawrence Berkeley National Laboratory
Co-authored papers 3
Melissa A Haendel
Co-authored papers 3
Luitgard Graul-Neumann
Charite Universitaetsmedizin Berlin
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Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Giovanni Battista Ferrero
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Melissa A Haendel
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Release 1.2