Exome sequencing in unspecific intellectual disability and rare disorders

por Rauch, Anita
Publicado 2014

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi...

por Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
Publicado 2014

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)

por Asadollahi, Reza, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev, Meier, Urs R., Rauch, Anita
Publicado 2020

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies

por Vintschger, Ella, Kraemer, Dennis, Joset, Pascal, Horn, Anselm H. C., Rauch, Anita, Sticht, Heinrich, Bachmann-Gagescu, Ruxandra
Publicado 2022

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B

por Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita
Publicado 2017

Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

por Gogoll, Laura, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Baumer, Alessandra, Gerth‐Kahlert, Christina, Tutschek, Boris, Rauch, Anita
Publicado 2021

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

por Grünblatt, Edna, Oneda, Beatrice, Ekici, Arif B., Ball, Juliane, Geissler, Julia, Uebe, Steffen, Romanos, Marcel, Rauch, Anita, Walitza, Susanne
Publicado 2017

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

por Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita
Publicado 2023

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

por Tibelius, Alexandra, Marhold, Joachim, Zentgraf, Hanswalter, Heilig, Christoph E., Neitzel, Heidemarie, Ducommun, Bernard, Rauch, Anita, Ho, Anthony D., Bartek, Jiri, Krämer, Alwin
Publicado 2009

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

por Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
Publicado 2015

Rare Copy Number Variants Are a Common Cause of Short Stature

por Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Publicado 2013

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

por Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M., Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke
Publicado 2017

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

por VanSickle, Elizabeth A., Michael, Julianne, Bachmann, André S., Rajasekaran, Surender, Prokop, Jeremy W., Kuzniecky, Ruben, Hofstede, Floris C., Steindl, Katharina, Rauch, Anita, Lipson, Mark H., Bupp, Caleb P.
Publicado 2021

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort

por Zanoni, Paolo, Steindl, Katharina, Sticht, Heinrich, Oneda, Beatrice, Joset, Pascal, Ivanovski, Ivan, Horn, Anselm H. C., Cabello, Elena M., Laube, Julia, Zweier, Markus, Baumer, Alessandra, Rauch, Anita, Khan, Nadia
Publicado 2023

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

por Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.
Publicado 2015

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for...

por Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Publicado 2010

Mutations in CDK5RAP2 cause Seckel syndrome

por Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Publicado 2015

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

por Boonsawat, Paranchai, Horn, Anselm H. C., Steindl, Katharina, Baumer, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello, Elena M., Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita
Publicado 2022

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

por Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita
Publicado 2019

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

por Popp, Bernt, Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias, Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B., Asadollahi, Reza, Regensburger, Martin, Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate, Reis, André
Publicado 2018