M
Maria Kibaek
Researcher at Odense University Hospital
Publications - 28
Citations - 825
Maria Kibaek is an academic researcher from Odense University Hospital. The author has contributed to research in topics: Autism & Allele. The author has an hindex of 13, co-authored 27 publications receiving 604 citations. Previous affiliations of Maria Kibaek include Boston Children's Hospital.
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Journal ArticleDOI
Clinical and mutational spectrum of Mowat-Wilson syndrome
Christiane Zweier,Christian Thiel,Andreas Dufke,Yanick J. Crow,Peter Meinecke,Mohnish Suri,Sirpa Ala-Mello,Frits A. Beemer,Sergio Bernasconi,Paolo Emilio Bianchi,Andrea Bier,Koen Devriendt,Boyan Dimitrov,Helen V. Firth,Renata C. Gallagher,Livia Garavelli,Gabriele Gillessen-Kaesbach,Louanne Hudgins,Helena Kääriäinen,Susan Karstens,Ian D. Krantz,Anca Mannhardt,Livija Medne,Jürgen Mücke,Maria Kibaek,Lotte Nylandsted Krogh,Maarit Peippo,Olaf Rittinger,Solveig Schulz,Susan Schelley,I. Karen Temple,Nick Dennis,Marjo S. van der Knaap,Patricia G. Wheeler,Baruch Yerushalmi,Martin Zenker,Heide Seidel,Augusta M. A. Lachmeijer,Trine Prescott,Cornelia Kraus,R. Brian Lowry,Anita Rauch +41 more
TL;DR: Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects and indicates that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum.
Journal ArticleDOI
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Andrew Dauber,Andrew Dauber,Christelle Golzio,Cécile Guenot,Francine M. Jodelka,Maria Kibaek,Susanne Kjaergaard,Bruno Leheup,Danielle Martinet,Małgorzata J.M. Nowaczyk,Jill A. Rosenfeld,Susan Zeesman,Janice Zunich,Jacques S. Beckmann,Joel N. Hirschhorn,Michelle L. Hastings,Sébastien Jacquemont,Nicholas Katsanis +17 more
TL;DR: Five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3 are reported on to demonstrate how CNVs can exhibit complex genetic architecture.
Journal ArticleDOI
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Jan Petter Larsen,Katrine M Johannesen,Jakob Ek,Shan Tang,Carla Marini,Susanne Blichfeldt,Maria Kibaek,Sarah von Spiczak,Sarah Weckhuysen,Sarah Weckhuysen,Mimoza Frangu,Bernd A. Neubauer,Peter Uldall,Pasquale Striano,Federico Zara,Rebecca Kleiss,Michael A. Simpson,Hiltrud Muhle,Marina Nikanorova,Birgit Jepsen,Niels Tommerup,Ulrich Stephani,Renzo Guerrini,Morten Duno,Helle Hjalgrim,Deb K. Pal,Ingo Helbig,Ingo Helbig,Rikke S. Møller +28 more
TL;DR: The role of SLC2A1 mutations in absence epilepsy with early onset is confirmed and the notion that SLC1A1 aberrations are a cause of MAE without associated features such as movement disorders is failed to support.
Journal ArticleDOI
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
María Concepción Gil-Rodríguez,Matthew A. Deardorff,Matthew A. Deardorff,Morad Ansari,Christopher A. Tan,Ilaria Parenti,Ilaria Parenti,Carolina Baquero-Montoya,Lilian Bomme Ousager,Beatriz Puisac,María Hernández-Marcos,María Esperanza Teresa-Rodrigo,Iñigo Marcos-Alcalde,Jan-Jaap Wesselink,Silvia Lusa-Bernal,Emilia K. Bijlsma,Diana Braunholz,Inés Bueno-Martinez,Dinah Clark,Nicola S. Cooper,Cynthia J. Curry,Richard Fisher,Alan Fryer,Jaya Ganesh,Jaya Ganesh,Cristina Gervasini,Gabriele Gillessen-Kaesbach,Yiran Guo,Hakon Hakonarson,Hakon Hakonarson,Robert J. Hopkin,Maninder Kaur,Brendan J. Keating,Brendan J. Keating,Maria Kibaek,Esther Kinning,Tjitske Kleefstra,Antonie D. Kline,Ekaterina Kuchinskaya,Lidia Larizza,Yun Li,Yun Li,Xuanzhu Liu,Milena Mariani,Jonathan Picker,Angeles Pié,Jelena Pozojevic,Ethel Queralt,Julie Richer,Elizabeth Roeder,Anubha Sinha,Richard H Scott,Richard H Scott,Joyce So,Joyce So,Joyce So,Katherine Wusik,Louise C. Wilson,Jianguo Zhang,Paulino Gómez-Puertas,Cesar H. Casale,Lena Ström,Angelo Selicorni,Feliciano J. Ramos,Laird G. Jackson,Ian D. Krantz,Ian D. Krantz,Soma Das,Raoul C.M. Hennekam,Frank J. Kaiser,David R. FitzPatrick,Juan Pié +71 more
TL;DR: It is confirmed that de novo SMC3 mutations account for ∼1%–2% of CdLS‐like phenotypes, and modeling of the mutation effects on protein structure suggests a dominant‐negative effect on the multimeric cohesin complex.
Journal ArticleDOI
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Rea M. Lardelli,Ashleigh E. Schaffer,Ashleigh E. Schaffer,Veerle Rc Eggens,Maha S. Zaki,Stephanie Grainger,Shashank Sathe,Eric L. Van Nostrand,Zinayida Schlachetzki,Basak Rosti,Naiara Akizu,Eric Scott,Jennifer L. Silhavy,Laura Dean Heckman,Rasim Ozgur Rosti,Esra Dikoglu,Anne Gregor,Alicia Guemez-Gamboa,Damir Musaev,Rohit Mande,Ari Widjaja,Timothy Shaw,Sebastian Markmiller,Isaac Marin-Valencia,Justin H Davies,Linda De Meirleir,Hülya Kayserili,Umut Altunoglu,Mary Louise Freckmann,Linda Warwick,David Chitayat,Susan Blaser,Ahmet Okay Caglayan,Ahmet Okay Caglayan,Kaya Bilguvar,Hüseyin Per,Christina Fagerberg,Henrik Thybo Christesen,Maria Kibaek,Kimberly A. Aldinger,David K. Manchester,Naomichi Matsumoto,Kazuhiro Muramatsu,Hirotomo Saitsu,Hirotomo Saitsu,Masaaki Shiina,Kazuhiro Ogata,Nicola Foulds,William B. Dobyns,Neil C. Chi,David Traver,Luigina Spaccini,Stefania Maria Bova,Stacey Gabriel,Murat Gunel,Enza Maria Valente,Marie-Cécile Nassogne,Eric J. Bennett,Gene W. Yeo,Gene W. Yeo,Frank Baas,Jens Lykke-Andersen,Joseph G. Gleeson,Joseph G. Gleeson +63 more
TL;DR: The cause of a neurodegenerative syndrome linked to snRNA maturation is identified and a key factor involved in the processing of snRNA 3′ ends is uncovered.