Suzanna G.M. Frints
Maastricht University
31 Papers
210 Citations
Suzanna G.M. Frints is an academic researcher from Maastricht University. The author has contributed to research in topics: Gene & Medicine. The author has an hindex of 21, co-authored 29 publications. Previous affiliations of Suzanna G.M. Frints include Maastricht University Medical Centre.
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Papers
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Nathalie Van der Aa,Liesbeth Rooms,Geert Vandeweyer,Jenneke van den Ende,Edwin Reyniers,Marco Fichera,Corrado Romano,Barbara Delle Chiaie,Geert Mortier,Björn Menten,Anne Destree,Isabelle Maystadt,Katrin Männik,Ants Kurg,Tiia Reimand,Dom McMullan,Christine Oley,Louise Brueton,Ernie M.H.F. Bongers,Bregje W.M. van Bon,Rolph Pfund,Sébastien Jacquemont,Alessandra Ferrarini,Danielle Martinet,Connie Schrander-Stumpel,Alexander P.A. Stegmann,Suzanna G.M. Frints,Bert B.A. de Vries,Berten Ceulemans,R. Frank Kooy +29 more
TL;DR: This patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.
Erratum: Disruption of a ciliary B9 protein complex causes meckel syndrome ((The American Journal of Human Genetics (July 2011) 89 (94-110))
William E. Dowdle,Jon F. Robinson,Andreas Kneist,M. Salomé Sirerol-Piquer,Suzanna G.M. Frints,Kevin C. Corbit,Norann A. Zaghloul,Gesina van Lijnschoten,Leon Mulders,Dideke E. Verver,Klaus Zerres,Randall R. Reed,Tania Attié-Bitach,Colin A. Johnson,José Manuel García-Verdugo,Elias Nicholas Katsanis,Carsten Bergmann,Jeremy F. Reiter +17 more
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells
Hikaru Ito,Hiroki Shiwaku,Chisato Yoshida,Hidenori Homma,Hong Luo,Xigui Chen,Kyota Fujita,Luciana Musante,Ute Fischer,Suzanna G.M. Frints,Corrado Romano,Yoshiho Ikeuchi,Teppei Shimamura,Seiya Imoto,Satoru Miyano,Shin-ichi Muramatsu,Takeshi Kawauchi,Mikio Hoshino,Marius Sudol,Anup Arumughan,Erich E. Wanker,Tina Rich,Charles E. Schwartz,Fumio Matsuzaki,Azad Bonni,Vera M. Kalscheuer,Hitoshi Okazawa +26 more
TL;DR: Exogenous Apc4, a hub protein in the network of affected genes, recovered the cell cycle, proliferation, and cell phenotypes of NSPCs caused by Pqbp1-cKO and reveals a mechanism of brain size control based on the simple reduction of the NSPC pool by cell cycle time elongation.
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands
Celia Zazo Seco,Mieke Wesdorp,Ilse Feenstra,Rolph Pfundt,Jayne Y. Hehir-Kwa,Stefan H. Lelieveld,Steven Castelein,Christian Gilissen,Ilse J. de Wijs,Ronald J.C. Admiraal,Ronald J.E. Pennings,Henricus P. M. Kunst,Jiddeke M. van de Kamp,Saskia Tamminga,Arjan C. Houweling,Astrid S Plomp,Saskia M. Maas,Pia A. M. de Koning Gans,Sarina G. Kant,Christa M. De Geus,Suzanna G.M. Frints,Els K. Vanhoutte,Marieke F. van Dooren,Marie José H. Van Den Boogaard,Hans Scheffer,Marcel R. Nelen,Hannie Kremer,Lies H. Hoefsloot,Lies H. Hoefsloot,Margit Schraders,Helger G. Yntema +30 more
TL;DR: In this study, whole-exome sequencing targeting a panel of HI-related genes is evaluated and causative variants in GJB2, USH2A, MYO15A and STRC were the leading causes for autosomal recessive and dominant HI, respectively.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Suzanna G.M. Frints,Friederike Hennig,Roberto Colombo,Sébastien Jacquemont,Paulien A. Terhal,Holly H. Zimmerman,David Hunt,Bryce A. Mendelsohn,Ulrike Kordaß,Richard Webster,Margje Sinnema,Omar A. Abdul-Rahman,Vanessa Suckow,Alberto Fernández-Jaén,Kees E. P. van Roozendaal,Servi J. C. Stevens,Merryn V. E. Macville,Salwan Al-Nasiry,Koen L.I. van Gassen,Norbert Utzig,Suzanne M. Koudijs,Lesley M McGregor,Saskia M. Maas,Diana Baralle,Diana Baralle,Abhijit Dixit,Peter Wieacker,Marcus Lee,Arthur Lee,Arthur Lee,Elizabeth C. Engle,Gunnar Houge,Gyri Aasland Gradek,Andrew G. L. Douglas,Andrew G. L. Douglas,Cheryl Longman,Shelagh Joss,Danita Velasco,Raoul C.M. Hennekam,Hiromi Hirata,Vera M. Kalscheuer +40 more
TL;DR: ZC4H2 is proposed as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo‐/akinesia and/or (neurogenic) AMC and pathogenicity of two newly identified missense variants was supported by studies in zebrafish.