Maximilian Radtke - Hosp & Clin Leipzig, Univ Leipzig

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论文共 25 篇作者统计合作学者相似作者

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Automatized Detection of Uniparental Disomies in a Large Cohort

Johanna Moch,Maximilian Radtke,Thomas Liehr,Thomas Eggermann,Christian Gilissen,Rolph Pfundt,Galuh Astuti,Julia Hentschel,Isabell Schumann

Human Geneticspp.1-10, (2024)

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Limitations in Next-Generation Sequencing-Based Genotyping of Breast Cancer Polygenic Risk Score Loci

Alexandra Baumann,Christian Ruckert, Christoph Meier, Tim Hutschenreiter,Robert Remy, Benedikt Schnur, Marvin Doebel, Rudel Christian Nkouamedjo Fankep,Dariush Skowronek, Oliver Kutz,Norbert Arnold, Anna-Lena Katzke,

EUROPEAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 987-997

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De Novo Variants in KDM2A Cause a Syndromic Neurodevelopmental Disorder - Virtual

Konrad Platzer,Eric Anderson,Sukhleen Kour,Deepa Rajan, Senta Schoennagel, Laura-Marie Pilgram,Karen Stals,Deirdre Donnelly, Siobhan O'Sullivan, John Mantovani,Pia Zacher,Nicolas Chatron,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 8-9

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Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik,Gabrielle Lemire, Eva Berger,Maha S. Zaki, Mariel Wissmann,Wathone Win,Susan M. White,Ben Weisburd,Dagmar Wieczorek,Leigh B. Waddell,Jeffrey M. Verboon,Grace E. VanNoy,

NEW ENGLAND JOURNAL OF MEDICINEno. 21 (2024): 1985-1997

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Altafplotter: a Web App for Reliable UPD Detection in NGS Diagnostics

Maximilian Radtke, Johanna Moch,Julia Hentschel,Isabell Schumann

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 677-677

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Molecular and Phenotypic Characterization of the RORB-Related Disorder

Zeynep Gokce-Samar,Annalisa Vetro,Julitta De Bellescize,Tiziana Pisano,Laloe Monteiro, Noemie Penaud,Christian M. Korff,Joel Fluss,Carla Marini,Elisabetta Cesaroni,Blanca Mercedes Alvarez,Damien Sanlaville,

Neurology（2023）

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Case Report: Complete Paternal Isodisomy on Chromosome 18 Induces Methylation Changes in PARD6G-AS1 Promotor in a Case with Arthrogryposis

Johanna Moch,Maximilian Radtke,Janina Gburek-Augustat,Maike Karnstedt, Senta Schoennagel,Stephan H. Drukewitz, Laura Pilgram,Julia Hentschel,Isabell Schumann

Frontiers in genetics（2023）

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A Novel Syndrome Caused by the Constitutional Gain-Offunction Variant P.glu1099lys in NSD2

Melanie Brugger,Sibylle Poschmann,Tobias Bartolomaeus,Maximilian Radtke,Julia Hentschel,Nataliya Di Donato,Andreas Rump,Janina Gburek-Augustat,Elisabeth Graf,Matias Wagner,Johannes Lemke,Thomas Meitinger,

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 18-19

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AutoCaSc: Prioritizing Candidate Genes for Neurodevelopmental Disorders

Johann Lieberwirth, Benjamin Buettner,Chiara Kloeckner,Konrad Platzer,Maximilian Radtke,Meret Wegler,Bernt Popp,Rami Abou Jamra

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 450-451

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De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

Konrad Platzer,Heinrich Sticht,Caleb Bupp,Mathily Ganapathi,Elaine Pereira,Gwenael Le Guyader,Frederic Bilan,Lindsay Henderson,Holger Taschenberger,Nils Brose,Maximilian Radtke,Rami Abou Jamra,

medRxiv（2023）

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