Single-Cell Sequencing in Neurodegenerative Disorders

por Pozojevic, Jelena, Spielmann, Malte
Publicado 2023

Computational and experimental methods for classifying variants of unknown clinical significance

por Spielmann, Malte, Kircher, Martin
Publicado 2022

The role of single-cell genomics in human genetics

por Sreenivasan, Varun K A, Balachandran, Saranya, Spielmann, Malte
Publicado 2022

Comparative single-cell analysis of the adult heart and coronary vasculature

por Balachandran, Saranya, Pozojevic, Jelena, Sreenivasan, Varun K. A., Spielmann, Malte
Publicado 2022

Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

por Bartzela, Theodosia, Theuerkauf, Björn, Reichardt, Elisabeth, Spielmann, Malte, Opitz, Charlotte
Publicado 2021

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado 2015

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

por Prasuhn, Michelle, Freitag, Josephine Christin, Lüken, Sabine, Kakkassery, Vinodh, Merz, Hartmut, Caliebe, Almuth, Spielmann, Malte, Ranjbar, Mahdy, Rommel, Felix
Publicado 2022

Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development

por Sreenivasan, Varun K. A., Dore, Riccardo, Resch, Julia, Maier, Julia, Dietrich, Carola, Henck, Jana, Balachandran, Saranya, Mittag, Jens, Spielmann, Malte
Publicado 2023

Combining callers improves the detection of copy number variants from whole-genome sequencing

por Coutelier, Marie, Holtgrewe, Manuel, Jäger, Marten, Flöttman, Ricarda, Mensah, Martin A., Spielmann, Malte, Krawitz, Peter, Horn, Denise, Beule, Dieter, Mundlos, Stefan
Publicado 2021

Enhanced susceptibility to infections in a diabetic wound healing model

por Hirsch, Tobias, Spielmann, Malte, Zuhaili, Baraa, Koehler, Till, Fossum, Magdalena, Steinau, Hans-Ulrich, Yao, Feng, Steinstraesser, Lars, Onderdonk, Andrew B, Eriksson, Elof
Publicado 2008

Clonal evolution in tyrosine kinase inhibitor-resistance: lessons from in vitro-models

por Kaehler, Meike, Osteresch, Pia, Künstner, Axel, Vieth, Stella Juliane, Esser, Daniela, Möller, Marius, Busch, Hauke, Vater, Inga, Spielmann, Malte, Cascorbi, Ingolf, Nagel, Inga
Publicado 2023

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

por Tayebi, Naeimeh, Jamsheer, Aleksander, Flöttmann, Ricarda, Sowinska-Seidler, Anna, Doelken, Sandra C, Oehl-Jaschkowitz, Barbara, Hülsemann, Wiebke, Habenicht, Rolf, Klopocki, Eva, Mundlos, Stefan, Spielmann, Malte
Publicado 2014

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

por Meinel, Jakob A, Yumiceba, Verónica, Künstner, Axel, Schultz, Kristin, Kruse, Nathalie, Kaiser, Frank J, Holterhus, Paul-Martin, Claviez, Alexander, Hiort, Olaf, Busch, Hauke, Spielmann, Malte, Werner, Ralf
Publicado 2023

The single cell transcriptional landscape of mammalian organogenesis

por Cao, Junyue, Spielmann, Malte, Qiu, Xiaojie, Huang, Xingfan, Ibrahim, Daniel M., Hill, Andrew J., Zhang, Fan, Mundlos, Stefan, Christiansen, Lena, Steemers, Frank J., Trapnell, Cole, Shendure, Jay
Publicado 2019

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

por Pantel, Jean Tori, Hajjir, Nurulhuda, Danyel, Magdalena, Elsner, Jonas, Abad-Perez, Angela Teresa, Hansen, Peter, Mundlos, Stefan, Spielmann, Malte, Horn, Denise, Ott, Claus-Eric, Mensah, Martin Atta
Publicado 2020

Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma

por Gebauer, Niklas, Witte, Hanno M., Merz, Hartmut, Oschlies, Ilske, Klapper, Wolfram, Caliebe, Almuth, Tharun, Lars, Spielmann, Malte, von Bubnoff, Nikolas, Feller, Alfred C., Murga Penas, Eva M.
Publicado 2021

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions

por Lybæk, Helle, Robson, Michael, de Leeuw, Nicole, Hehir‐Kwa, Jayne Y., Jeffries, Aaron, Haukanes, Bjørn Ivar, Berland, Siren, de Bruijn, Diederik, Mundlos, Stefan, Spielmann, Malte, Houge, Gunnar
Publicado 2022

VarFish: comprehensive DNA variant analysis for diagnostics and research

por Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter
Publicado 2020

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

por Nmezi, Bruce, Giorgio, Elisa, Raininko, Raili, Lehman, Anna, Spielmann, Malte, Koenig, Mary Kay, Adejumo, Rahmat, Knight, Melissa, Gavrilova, Ralitza, Alturkustani, Murad, Sharma, Manas, Hammond, Robert, Gahl, William A., Toro, Camilo, Brusco, Alfredo, Padiath, Quasar S.
Publicado 2019

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

por Cova, Giulia, Glaser, Juliane, Schöpflin, Robert, Prada-Medina, Cesar Augusto, Ali, Salaheddine, Franke, Martin, Falcone, Rita, Federer, Miriam, Ponzi, Emanuela, Ficarella, Romina, Novara, Francesca, Wittler, Lars, Timmermann, Bernd, Gentile, Mattia, Zuffardi, Orsetta, Spielmann, Malte, Mundlos, Stefan
Publicado 2023