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

by Vera M. Kalscheuer, Vera M. Kalscheuer, Victoria M. James, Miranda L. Himelright, Philip Long, Renske Oegema, Corinna Jensen, Melanie Bienek, Hao Hu, Stefan A. Haas, Maya Topf, A. Jeannette M. Hoogeboom, Kirsten Harvey, Randall Walikonis, Robert J. Harvey
Published 2016-01-01

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

by Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Hans‐Hilger Ropers, Vera M. Kalscheuer, Daniel Auld, Kimia Kahrizi, Yasser Riazalhosseini, Hossein Najmabadi
Published 2020-10-01

Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability

by Tzu-Ting Chiou, Philip Long, Alexandra Schumann-Gillett, Venkateswarlu Kanamarlapudi, Stefan A. Haas, Kirsten Harvey, Megan L. O’Mara, Angel L. De Blas, Vera M. Kalscheuer, Robert J. Harvey, Robert J. Harvey
Published 2019-03-01

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

by Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martínez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia R. Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M. T. Greenwood, Anna K. Naumova
Published 2018-02-01

Dysfunction of the heteromeric Kv7.3/Kv7.5 potassium channel is associated with autism spectrum disorders

by Mette eGilling, Mette eGilling, Hanne Borger Rasmussen, Kirstine eCalloe, Ana Filipa Sequeira, Ana Filipa Sequeira, Marta eBaretto, Marta eBaretto, Guiomar eOliveira, Joana eAlmeida, Marlene Briciet Lauritsen, Reinhard eUllmann, Susanne Eriksen Boonen, Karen eBrøndum-Nielsen, Vera M Kalscheuer, Zeynep eTümer, Zeynep eTümer, Astrid M. Vicente, Astrid M. Vicente, Nicole eSchmitt, Niels eTommerup
Published 2013-04-01