C
C Jensen
Researcher at Max Planck Society
Publications - 11
Citations - 1435
C Jensen is an academic researcher from Max Planck Society. The author has contributed to research in topics: X-linked intellectual disability & Gene. The author has an hindex of 8, co-authored 11 publications receiving 1215 citations. Previous affiliations of C Jensen include Greifswald University Hospital.
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Journal ArticleDOI
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Hossein Najmabadi,Hao Hu,Masoud Garshasbi,Tomasz Zemojtel,Seyedeh Sedigheh Abedini,Wei Chen,Masoumeh Hosseini,Farkhondeh Behjati,Stefan A. Haas,Payman Jamali,Agnes Zecha,Marzieh Mohseni,Lucia Püttmann,Leyla Nouri Vahid,C Jensen,Lia Abbasi Moheb,M Bienek,Farzaneh Larti,Ines Mueller,Robert Weissmann,Hossein Darvish,Klaus Wrogemann,Klaus Wrogemann,Valeh Hadavi,Bettina Lipkowitz,Sahar Esmaeeli-Nieh,Dagmar Wieczorek,Roxana Kariminejad,Saghar Ghasemi Firouzabadi,Monika Cohen,Zohreh Fattahi,Imma Rost,Faezeh Mojahedi,Christoph Hertzberg,Atefeh Dehghan,Anna Rajab,Mohammad Javad Soltani Banavandi,Julia Hoffer,Masoumeh Falah,Luciana Musante,Vera M. Kalscheuer,Reinhard Ullmann,Andreas W. Kuss,Andreas Tzschach,Kimia Kahrizi,Hans-Hilger Ropers +45 more
TL;DR: This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes.
Journal ArticleDOI
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hao Hu,Stefan A. Haas,Jamel Chelly,Jamel Chelly,H Van Esch,Martine Raynaud,A.P.M. de Brouwer,Stefanie Weinert,Guy Froyen,Suzanna G.M. Frints,Frédéric Laumonnier,Tomasz Zemojtel,Michael I. Love,Hugues Richard,Anne-Katrin Emde,M Bienek,C Jensen,Melanie Hambrock,Utz Fischer,Claudia Langnick,Mirjam Feldkamp,Willemijn M. Wissink-Lindhout,Nicolas Lebrun,Nicolas Lebrun,L. Castelnau,L. Castelnau,Julien Rucci,Julien Rucci,R. Montjean,R. Montjean,Olivier Dorseuil,Olivier Dorseuil,Pierre Billuart,Pierre Billuart,T. Stuhlmann,Marie Shaw,Mark A. Corbett,Alison Gardner,Saffron A.G. Willis-Owen,Saffron A.G. Willis-Owen,C Tan,Kathryn Friend,Stefanie Belet,K. E. P. van Roozendaal,M Jimenez-Pocquet,Marie-Pierre Moizard,Nathalie Ronce,Ruping Sun,Sean O'Keeffe,Ramu Chenna,A. van Bömmel,Jonathan Göke,Anna Hackett,Michael Field,Louise Christie,Jackie Boyle,Eric Haan,Eric Haan,John Nelson,Gillian Turner,Gareth Baynam,Gabriele Gillessen-Kaesbach,Ulrich Müller,Daniela Steinberger,Bartłomiej Budny,Magdalena Badura-Stronka,Anna Latos-Bielenska,Lilian Bomme Ousager,Peter Wieacker,G. Rodríguez Criado,Marie-Louise Bondeson,Göran Annerén,Andreas Dufke,Monika Cohen,L. Van Maldergem,Catherine Vincent-Delorme,Bernard Echenne,B. Simon-Bouy,Tjitske Kleefstra,Marjolein H. Willemsen,J. P. Fryns,Koenraad Devriendt,Reinhard Ullmann,Martin Vingron,Klaus Wrogemann,Klaus Wrogemann,Thomas F. Wienker,Andreas Tzschach,H Van Bokhoven,Jozef Gecz,Thomas J. Jentsch,Wei Chen,Hans-Hilger Ropers,Vera M. Kalscheuer +93 more
TL;DR: It is suggested that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X- Chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
Journal ArticleDOI
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling
Lot Snijders Blok,Erik C. Madsen,Jane Juusola,Christian Gilissen,Diana Baralle,Margot R.F. Reijnders,Hanka Venselaar,Céline Helsmoortel,Megan T. Cho,Alexander Hoischen,Lisenka E.L.M. Vissers,Tom S. Koemans,Willemijn M. Wissink-Lindhout,Evan E. Eichler,Evan E. Eichler,Corrado Romano,Hilde Van Esch,Connie T.R.M. Stumpel,Maaike Vreeburg,E. Smeets,Karin Oberndorff,Bregje W.M. van Bon,Bregje W.M. van Bon,Marie Shaw,Jozef Gecz,Eric Haan,M Bienek,C Jensen,Bart Loeys,Anke Van Dijck,A. Micheil Innes,Hilary Racher,Sascha Vermeer,Nataliya Di Donato,Andreas Rump,Katrina Tatton-Brown,Michael Parker,Alex Henderson,Sally Ann Lynch,Alan Fryer,Alison Ross,Pradeep Vasudevan,Usha Kini,Ruth Newbury-Ecob,Kate Chandler,Alison Male,Sybe Dijkstra,Jolanda H. Schieving,Jacques C. Giltay,Koen L.I. van Gassen,Janneke H M Schuurs-Hoeijmakers,Perciliz L. Tan,Igor Pediaditakis,Stefan A. Haas,Kyle Retterer,Patrick Reed,Kristin G. Monaghan,Eden Haverfield,Marvin R. Natowicz,Angela Myers,Michael C. Kruer,Quinn Stein,Kevin A. Strauss,Karlla W. Brigatti,Katherine G. Keating,Barbara K. Burton,Katherine H. Kim,Joel Charrow,Jennifer Norman,Audrey Foster-Barber,Antonie D. Kline,Amy S. Kimball,Elaine H. Zackai,Margaret H. Harr,Joyce Fox,Julie McLaughlin,Kristin Lindstrom,Katrina Haude,Kees E. P. van Roozendaal,Han G. Brunner,Wendy K. Chung,R. Frank Kooy,Rolph Pfundt,Vera M. Kalscheuer,Sarju G. Mehta,Nicholas Katsanis,Tjitske Kleefstra +86 more
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
Journal ArticleDOI
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Raman Kumar,Mark A. Corbett,Bregje W.M. van Bon,Bregje W.M. van Bon,Joshua A. Woenig,Lloyd Weir,Evelyn Douglas,Kathryn Friend,Alison Gardner,Marie Shaw,Lachlan A. Jolly,C Tan,Matthew F. Hunter,Matthew F. Hunter,Anna Hackett,Michael Field,Elizabeth E. Palmer,Melanie Leffler,Carolyn Rogers,Jackie Boyle,M Bienek,C Jensen,Griet Van Buggenhout,Hilde Van Esch,Katrin Hoffmann,Martine Raynaud,Martine Raynaud,Huiying Zhao,Robin Reed,Hao Hu,Stefan A. Haas,Eric Haan,Eric Haan,Vera M. Kalscheuer,Jozef Gecz +34 more
TL;DR: It is reported that variants in THOC2, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID), and disturbance of the canonical molecular pathway of mRNA export is compatible with life but results in altered neuronal development with other comorbidities.
Journal ArticleDOI
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Cristina Elena Niturad,Dorit Lev,Dorit Lev,Vera M. Kalscheuer,Agnieszka Charzewska,Julian Schubert,Julian Schubert,Tally Lerman-Sagie,Tally Lerman-Sagie,Hester Y. Kroes,Renske Oegema,Monica Traverso,Nicola Specchio,Maria Lassota,Jamel Chelly,Odeya Bennett-Back,Nirit Carmi,Nirit Carmi,Nirit Carmi,Tal Koffler-Brill,Michele Iacomino,Marina Trivisano,Giuseppe Capovilla,Pasquale Striano,Magdalena Nawara,Sylwia Rzonca,Ute Fischer,M Bienek,C Jensen,Hao Hu,Holger Thiele,Janine Altmüller,Roland Krause,Patrick May,Felicitas Becker,Rudi Balling,Saskia Biskup,Stefan A. Haas,Peter Nürnberg,Koen L.I. van Gassen,Holger Lerche,Federico Zara,Snezana Maljevic,Esther Leshinsky-Silver +43 more
TL;DR: The results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.