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

by 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
Published in Orphanet J Rare Dis (2014)

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

by Melo, Uirá Souto, Schöpflin, Robert, Acuna-Hidalgo, Rocio, Mensah, Martin Atta, Fischer-Zirnsak, Björn, Holtgrewe, Manuel, Klever, Marius-Konstantin, Türkmen, Seval, Heinrich, Verena, Pluym, Ilina Datkhaeva, Matoso, Eunice, Bernardo de Sousa, Sérgio, Louro, Pedro, Hülsemann, Wiebke, Cohen, Monika, Dufke, Andreas, Latos-Bieleńska, Anna, Vingron, Martin, Kalscheuer, Vera, Quintero-Rivera, Fabiola, Spielmann, Malte, Mundlos, Stefan
Published in Am J Hum Genet (2020)

Genome sequencing in families with congenital limb malformations

by Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elçioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, André, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Türkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hülsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
Published in Hum Genet (2021)