A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

by Dutta, Usha R, Pidugu, Vijaya Kumar, Kalscheuer, Vera M, Dalal, Ashwin B
Published 2014

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

by Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Schröder, Jörg, Kalscheuer, Vera M, Shehata-Dieler, Wafaa, Haaf, Thomas
Published 2014

Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16

by Shehata, Saifeldin N., Deak, Maria, Morrice, Nicholas A., Ohta, Eriko, Hunter, Roger W., Kalscheuer, Vera M., Sakamoto, Kei
Published 2015

Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci

by Singer, Heike, Walier, Maja, Nüsgen, Nicole, Meesters, Christian, Schreiner, Felix, Woelfle, Joachim, Fimmers, Rolf, Wienker, Thomas, Kalscheuer, Vera M., Becker, Tim, Schwaab, Rainer, Oldenburg, Johannes, El-Maarri, Osman
Published 2012

A new standard nomenclature for proteins related to Apx and Shroom

by Hagens, Olivier, Ballabio, Andrea, Kalscheuer, Vera, Kraehenbuhl, Jean-Pierre, Schiaffino, M Vittoria, Smith, Peter, Staub, Olivier, Hildebrand, Jeff, Wallingford, John B
Published 2006

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

by Williams, Lacey S., Kim, Hyung-Goo, Kalscheuer, Vera M., Tuck, J. Matthew, Chorich, Lynn P., Sullivan, Megan E., Falkenstrom, Allison, Reindollar, Richard H., Layman, Lawrence C.
Published 2016

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

by Gilling, Mette, Rasmussen, Hanne B., Calloe, Kirstine, Sequeira, Ana F., Baretto, Marta, Oliveira, Guiomar, Almeida, Joana, Lauritsen, Marlene B., Ullmann, Reinhard, Boonen, Susanne E., Brondum-Nielsen, Karen, Kalscheuer, Vera M., Tümer, Zeynep, Vicente, Astrid M., Schmitt, Nicole, Tommerup, Niels
Published 2013

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

by Wang, Yongbo, Gogol-Döring, Andreas, Hu, Hao, Fröhler, Sebastian, Ma, Yunxia, Jens, Marvin, Maaskola, Jonas, Murakawa, Yasuhiro, Quedenau, Claudia, Landthaler, Markus, Kalscheuer, Vera, Wieczorek, Dagmar, Wang, Yang, Hu, Yuhui, Chen, Wei
Published 2013

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

by Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Published 2014

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

by Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.
Published 2016

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

by Minocherhomji, Sheroy, Hansen, Claus, Kim, Hyung-Goo, Mang, Yuan, Bak, Mads, Guldberg, Per, Papadopoulos, Nickolas, Eiberg, Hans, Doh, Gerald Dayebga, Møllgård, Kjeld, Hertz, Jens Michael, Nielsen, Jørgen E., Ropers, Hans-Hilger, Tümer, Zeynep, Tommerup, Niels, Kalscheuer, Vera M., Silahtaroglu, Asli
Published 2014